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Lauri Aaltonen

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DNA Mutational Analysis

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Anthony M Raizis; David Van Mater; Yaolin Zhou; Lauri A Aaltonen; Vivienne M Bickley; Michelle S Cheale; Peter M George; Dietmar Lohmann; Philip M Rosoff
Trilateral retinoblastoma in a patient with peutz-jeghers syndrome.
Silva Saarinen; Minna Taskinen; Pia Vahteristo; Kari Vesanen; Mervi Aavikko; Marja Hietala; Eevi Kaasinen; Marja-Liisa Karjalainen-Lindsberg; Riku Katainen; Soili Kytölä; Sirpa Leppä; Lauri A Aaltonen
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.
Albert Beckers; Adrian F Daly; Lauri A Aaltonen; Auli Karhu
Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene.

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All Publications

2013: Anthony M Raizis; David Van Mater; Yaolin Zhou; Lauri A Aaltonen; Vivienne M Bickley; Michelle S Cheale; Peter M George; Dietmar Lohmann; Philip M Rosoff
Trilateral retinoblastoma in a patient with peutz-jeghers syndrome.
American journal of medical genetics. Part A 2013;161(5):1096-100.
2013: Silva Saarinen; Minna Taskinen; Pia Vahteristo; Kari Vesanen; Mervi Aavikko; Marja Hietala; Eevi Kaasinen; Marja-Liisa Karjalainen-Lindsberg; Riku Katainen; Soili Kytölä; Sirpa Leppä; Lauri A Aaltonen
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.
Blood 2013;121(17):3428-30.
2013: Albert Beckers; Adrian F Daly; Lauri A Aaltonen; Auli Karhu
Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene.
Endocrine reviews 2013;34(2):239-77.
2013: Outi Kilpivaara; Lauri A Aaltonen
Diagnostic cancer genome sequencing and the contribution of germline variants.
Science (New York, N.Y.) 2013;339(6127):1559-62.
2013: Silva Saarinen; Pia Vahteristo; Kaarle Franssila; Markus J Mäkinen; Eero Pukkala; Lauri A Aaltonen
High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013;31(7):938-43.
2013: Eevi Kaasinen; Outi Kilpivaara; Paul Knekt; Maarit Laaksonen; Rainer Lehtonen; Yilong Li; Toni Patama; Esa Pitkänen; Lauri A Aaltonen; Mervi Aavikko; Miia Artama; Silva Saarinen; Pia Vahteristo; Eero Pukkala
Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.
PloS one 2013;8(1):e55209.
2012: Inderpreet Kaur Sur; Lauri A Aaltonen; Martin Enge; Outi Hallikas; Auli Karhu; Mikko Taipale; Mikko Turunen; Anna Vähärautio; Jian Yan; Jussi Taipale
Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors.
Science (New York, N.Y.) 2012;338(6112):1360-3.
2012: Heli J Lehtonen; Taina Sipponen; Sari Tojkander; Lauri A Aaltonen; Heikki Järvinen; Riitta Karikoski; Nigel G Laing; Pekka Lappalainen; Sari Tuupanen
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
Gastroenterology 2012;143(6):1482-1491.e3.
2012: K Kämpjärvi; Outi Kilpivaara; Heli J Lehtonen; R L Levine; N Mäkinen; Jukka-Pekka Mecklin; M Mehine; Heli Nevanlinna; L M Pelttari; H Schrewe; Lauri A Aaltonen; O Abdel-Wahab; Johanna Arola; Tom Böhling; J Böhm; Ralf Bützow; Heikki Heinonen; P Hokland; Pia Vahteristo
Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.
British journal of cancer 2012;107(10):1761-5.
2012: Leticia Moreira; Victor Moreno; Polly A Newcomb; Maurizio Ponz de Leon; John D Potter; Anil K Rustgi; Stephen N Thibodeau; Lauri A Aaltonen; Dennis J Ahnen; Montserrat Andreu; Francesc Balaguer; John A Baron; Daniel D Buchanan; Antoni Castells; ALBERT DE LA CHAPELLE; Steven Gallinger; Shanaka Gunawardena; Robert Haile; Heather Hampel; John L Hopper; Mark A Jenkins; Loic Le Marchand; Noralane Lindor
Identification of Lynch syndrome among patients with colorectal cancer.
JAMA : the journal of the American Medical Association 2012;308(15):1555-65.
2012: Mervi Aavikko; Pia Alhopuro; Anssi Auvinen; D Gareth R Evans; Eevi Kaasinen; Anne Kiuru; Song-Ping Li; Yilong Li; Ekaterina Morgunova; Minna Pöyhönen; Silva Saarinen; Miriam J Smith; Jussi Taipale; Lauri A Aaltonen; Kari Vesanen; Pia Vahteristo
Loss of SUFU function in familial multiple meningioma.
American journal of human genetics 2012;91(3):520-6.
2012: Silva Saarinen; Pia Vahteristo; Kristiina Aittomäki; Tuula Kiviluoto; Virpi Launonen; Rainer Lehtonen; Lauri A Aaltonen
Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.
Familial cancer 2012;11(3):525-8.
2012: Liisa M Pelttari; Johanna Schleutker; Riikka Nurminen; Lauri A Aaltonen; Kristiina Aittomäki; Carl Blomqvist; Ralf Bützow; Alexandra Gylfe; Päivi Heikkilä; Anne Kallioniemi; Johanna Kiiski; Arto Leminen; Heli Nevanlinna
A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.
Journal of medical genetics 2012;49(7):429-32.
2012: Jaana Tolvanen; Outi Uimari; Lauri A Aaltonen; Markku Ryynänen; Pia Vahteristo
Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
Human reproduction (Oxford, England) 2012;27(6):1865-9.
2012: Diego Arango; Do-Sun Byun; Azadeh A Carr; Georgia Corner; Higinio Dopeso; Barry Iacopetta; Rocco Mazzolini; Carmel Murone; Lars Tögel; David S Williams; Nikolajs Zeps; Lauri A Aaltonen; Sheren Al-Obaidi; John M Mariadason
Villin expression is frequently lost in poorly differentiated colon cancer.
The American journal of pathology 2012;180(4):1509-21.
2012: Pia Alhopuro; Diego Arango; Mia Biström; Ana M Ferreira; Sampsa Hautaniemi; Elina Heliövaara; Robert M W Hofstra; Heikki Järvinen; Auli Karhu; Heli J Lehtonen; Jukka-Pekka Mecklin; Iina Niittymäki; Kari Nousiainen; Torben F Orntoft; Jani Puhakka; Anniina Raitila; Ari Ristimäki; Juha Saharinen; Heli Sammalkorpi; Raquel Seruca; Sónia Sousa; Sari Tuupanen; Lauri A Aaltonen
Candidate driver genes in microsatellite-unstable colorectal cancer.
International journal of cancer. Journal international du cancer 2012;130(7):1558-66.
2012: Rocco Mazzolini; Mark S Mooseker; Santiago Ramón y Cajal; Paulo Rodrigues; Simo Schwartz; Josep Tabernero; Lauri A Aaltonen; Hafid Alazzouzi; Pia Alhopuro; Elena Andretta; Manel Armengol; Sarah Bazzocco; Wakam Chang; Higinio Dopeso; Eloy Espín; Johannes Gebert; Javier Hernandez Losa; Matthias Kloor; Stefania Landolfi; John M Mariadason; Silvia Mateo-Lozano; Diego Arango
Brush border myosin Ia has tumor suppressor activity in the intestine.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(5):1530-5.
2012: Liisa M Pelttari; Johanna Schleutker; Lauri A Aaltonen; Alexandra Gylfe; Riikka Nurminen; Heli Nevanlinna
Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.
BMC cancer 2012;12():552.
2012: Sirkku Karinen; Rainer Lehtonen; Pasi Rastas; Silva Saarinen; Pia Vahteristo; Lauri A Aaltonen; Sampsa Hautaniemi
Rule-based induction method for haplotype comparison and identification of candidate disease loci.
Genome medicine 2012;4(3):21.
2012: Sari Tuupanen; Jian Yan; Hassan Askhtorab; Daniel A Culver; ALBERT DE LA CHAPELLE; Nathan Ellis; Charis Eng; Alexandra E Gylfe; Christopher A Haiman; Heather Hampel; Sampsa Hautaniemi; Brian E Henderson; Eevi Kaasinen; Matthew F Kalady; Temitope Keku; Sonia S Kupfer; Loic Le Marchand; Li Li; Upender Manne; Boris Pasche; Michael J Pennison; Robert S Sandler; DUANE SMOOT; Jussi Taipale; Mikko Turunen; Lauri A Aaltonen
Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.
Cancer genetics 2012;205(1-2):25-33.
2011: Netta Mäkinen; Shane Moore; Ian P M Tomlinson; Zephne M van der Spuy; Hanna-Riikka Heinonen; Lauri A Aaltonen
MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.
Oncotarget 2011;2(12):966-9.
2011: Netta Mäkinen; Miika Mehine; Jari Sjöberg; Jussi Taipale; Mikko Taipale; Jaana Tolvanen; Pia Vahteristo; Elina Virolainen; Jian Yan; Mervi Aavikko; Tom Böhling; Martin Enge; Massimiliano Gentile; Eevi Kaasinen; Riku Katainen; Taru A Koski; Virpi Launonen; Heli J Lehtonen; Yilong Li; Lauri A Aaltonen
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Science (New York, N.Y.) 2011;334(6053):252-5.
2011: Chiara Bardella; John W Baynes; Ashish Chandra; Mona El-Bahrawy; Norma Frizzell; Konstantinos Giaslakiotis; Adrian L Harris; Emine Hatipoglu; Kimberley Howarth; Benedikt Kessler; Virpi Launonen; Heli J Lehtonen; Valentine M Macaulay; Radu Mihai; Linda O'Flaherty; Christopher W Pugh; Peter J Ratcliffe; Ian Roberts; Jennifer Taylor; Nicola Ternette; Ian P M Tomlinson; David Trudgian; Gareth Turner; Lauri A Aaltonen; Julie Adam; Patrick J Pollard
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
The Journal of pathology 2011;225(1):4-11.
2011: Silva Saarinen; Pia Vahteristo; Ali Ünal; Lauri A Aaltonen; Barbara J Bain; Frédéric Bauduer; Kaarle Franssila; Sirpa Kivirikko; Virpi Launonen; Rainer Lehtonen; Kristiina Aittomäki
Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma.
British journal of haematology 2011;154(3):413-5.
2011: Silva Saarinen; Anthony J Swerdlow; Jussi Tarkkanen; Pia Vahteristo; Ali Ünal; Mervi Aavikko; Kristiina Aittomäki; Barbara J Bain; Frédéric Bauduer; Peter Broderick; Rosie Cooke; Kaarle Franssila; Richard Houlston; Eevi Kaasinen; Virpi Launonen; Heli J Lehtonen; Rainer Lehtonen; Markus J Mäkinen; Lauri A Aaltonen
Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.
Blood 2011;118(3):493-8.
2011: Iina Niittymäki; Alexandra Gylfe; Leena Laine; Marko Laakso; Heli J Lehtonen; Johanna Kondelin; Jaana Tolvanen; Kari Nousiainen; Jeroen Pouwels; Heikki Järvinen; Kyösti Nuorva; Jukka-Pekka Mecklin; Markus Makinen; Ari Ristimäki; Torben F Ørntoft; Sampsa Hautaniemi; Auli Karhu; Marko J Kallio; Lauri A Aaltonen
High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint.
Carcinogenesis 2011;32(3):305-11.
2011: Karoliina Stefanius; Tiina Kantola; Anne Tuomisto; Pia Vahteristo; Tuomo J Karttunen; Lauri A Aaltonen; Markus J Mäkinen; Auli Karhu
Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.
Virchows Archiv : an international journal of pathology 2011;458(2):213-9.
2011: Elina Heliövaara; Sari Tuupanen; Manuel Ahlsten; Shirley Hodgson; Ernesto De Menis; Outi Kuismin; Louise Izatt; R J McKinlay Gardner; Sadi Gundogdu; Anneke Lucassen; Johanna Arola; Anne Tuomisto; Markus Makinen; Auli Karhu; Lauri A Aaltonen
No evidence of RET germline mutations in familial pituitary adenoma.
Journal of molecular endocrinology 2011;46(1):1-8.
2011: Iina Niittymäki; Sari Tuupanen; Yilong Li; Heikki Järvinen; Jukka-Pekka Mecklin; Ian P M Tomlinson; Richard S Houlston; Auli Karhu; Lauri A Aaltonen
Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.
BMC medical genetics 2011;12():23.
2010: Alexandra E Gylfe; Johanna Sirkiä; Manuel Ahlsten; Heikki Järvinen; Jukka-Pekka Mecklin; Auli Karhu; Lauri A Aaltonen
Somatic mutations and germline sequence variants in patients with familial colorectal cancer.
International journal of cancer. Journal international du cancer 2010;127(12):2974-80.
2010: Anniina Raitila; Heli J Lehtonen; Johanna Arola; Elina Heliövaara; Manuel Ahlsten; Marianthi Georgitsi; Anu Jalanko; Anders Paetau; Lauri A Aaltonen; Auli Karhu
Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression.
The American journal of pathology 2010;177(4):1969-76.
2010: Alan M Pittman; Silvia Naranjo; Sanni E Jalava; Philip Twiss; Yussanne Ma; Bianca Olver; Amy Lloyd; Jayaram Vijayakrishnan; Mobshra Qureshi; Peter Broderick; Tom van Wezel; Hans Morreau; Sari Tuupanen; Lauri A Aaltonen; M Eva Alonso; Miguel Manzanares; Angela Gavilán; Tapio Visakorpi; José Luis Gómez-Skarmeta; Richard S Houlston
Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.
PLoS genetics 2010;6(9):.
2010: Eevi Kaasinen; Kristiina Aittomäki; Marianne Eronen; Pia Vahteristo; Auli Karhu; Jukka-Pekka Mecklin; Eero Kajantie; Lauri A Aaltonen; Rainer Lehtonen
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
Human molecular genetics 2010;19(14):2747-53.
2010: Pia Alhopuro; Mikael Björklund; Heli Sammalkorpi; Mikko Turunen; Sari Tuupanen; Mia Biström; Iina Niittymäki; Heli J Lehtonen; Teemu Kivioja; Virpi Launonen; Juha Saharinen; Kari Nousiainen; Sampsa Hautaniemi; Kyösti Nuorva; Jukka-Pekka Mecklin; Heikki Järvinen; Torben F Orntoft; Diego Arango; Rainer Lehtonen; Auli Karhu; Jussi Taipale; Lauri A Aaltonen
Mutations in the circadian gene CLOCK in colorectal cancer.
Molecular cancer research : MCR 2010;8(7):952-60.
2010: Iina Niittymäki; Eevi Kaasinen; Sari Tuupanen; Auli Karhu; Heikki Järvinen; Jukka-Pekka Mecklin; Ian P M Tomlinson; Maria Chiara Di Bernardo; richard Houlston; Lauri A Aaltonen
Low-penetrance susceptibility variants in familial colorectal cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010;19(6):1478-83.
2010: Pia Vahteristo; Taru A Koski; Laura Näätsaari; Maija Kiuru; Auli Karhu; Riitta Herva; Satu-Leena Sallinen; Outi Vierimaa; Erik Björck; Stéphane Richard; Betty Gardie; Didier Bessis; Emmanuel Van Glabeke; Ignacio Blanco; Richard Houlston; Leigha Senter; Marja Hietala; Kristiina Aittomäki; Lauri A Aaltonen; Virpi Launonen; Rainer Lehtonen
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Familial cancer 2010;9(2):245-51.
2010: Sérgia Velho; Carla Oliveira; Joana Paredes; Sónia Sousa; Marina Leite; Paulo Matos; Fernanda Milanezi; Ana Sofia Ribeiro; Nuno Mendes; Danilo Licastro; Auli Karhu; Maria José Oliveira; M J L Ligtenberg; Richard Hamelin; Fátima Carneiro; Annika Lindblom; Paivi Peltomaki; Sérgio Castedo; Simó Schwartz; peter Jordan; Lauri A Aaltonen; Robert M W Hofstra; Gianpaolo Suriano; Elia Stupka; Arsenio M Fialho; Raquel Seruca
Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.
Human molecular genetics 2010;19(4):697-706.
2009: Elina Heliövaara; Anniina Raitila; Virpi Launonen; Anders Paetau; Johanna Arola; Heli Lehtonen; Timo Sane; Robert J Weil; Outi Vierimaa; Pasi Salmela; Karoliina Tuppurainen; Markus Makinen; Lauri A Aaltonen; Auli Karhu
The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas.
The American journal of pathology 2009;175(6):2501-7.
2009: Juliet E Jennings; Marianthi Georgitsi; Ian Holdaway; Adrian F Daly; Maria Tichomirowa; Albert Beckers; Lauri A Aaltonen; Auli Karhu; Fergus J Cameron
Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.
European journal of endocrinology / European Federation of Endocrine Societies 2009;161(5):799-804.
2009: Ziqiang Yuan; Joongho Shin; Andrew J Wilson; SANJAY GOEL; Yi-He Ling; Naseem Ahmed; Higinio Dopeso; Minaxi Jhawer; Shannon Nasser; Cristina Montagna; Kenneth Fordyce; Leonard H Augenlicht; Lauri A Aaltonen; Diego Arango; Thomas K. Weber; John M Mariadason
An A13 repeat within the 3'-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression.
Cancer research 2009;69(19):7811-8.
2009: Heikki J Järvinen; Laura Renkonen-Sinisalo; Katja Aktán-Collán; Päivi Peltomäki; Lauri A Aaltonen; Jukka-Pekka Mecklin
Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009;27(28):4793-7.
2009: Sari Tuupanen; Mikko Turunen; Rainer Lehtonen; Outi Hallikas; Sakari Vanharanta; Teemu Kivioja; Mikael Björklund; Gonghong Wei; Jian Yan; Iina Niittymäki; Jukka-Pekka Mecklin; Heikki Järvinen; Ari Ristimäki; Mariachiara Di-Bernardo; Phil East; Luis Carvajal Carmona; richard Houlston; Ian Tomlinson; Kimmo Palin; Esko Ukkonen; Auli Karhu; Jussi Taipale; Lauri A Aaltonen
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.
Nature genetics 2009;41(8):885-90.
2009: Taru A Koski; Heli J Lehtonen; Kowan J Jee; Shinsuke Ninomiya; Simon A Joosse; Pia Vahteristo; Maija Kiuru; Auli Karhu; Heli Sammalkorpi; Sakari Vanharanta; Rainer Lehtonen; Henrik Edgren; petra nederlof; Marja Hietala; Kristiina Aittomäki; Riitta Herva; Sakari Knuutila; Lauri A Aaltonen; Virpi Launonen
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
Genes, chromosomes & cancer 2009;48(7):544-51.
2009: Outi Vierimaa; A Villablanca; A Alimov; Marianthi Georgitsi; Anniina Raitila; Pia Vahteristo; Catharina Larsson; A Ruokonen; E Eloranta; Tapani Ebeling; Jaakko Ignatius; Lauri A Aaltonen; Jaakko Leisti; Pasi Salmela
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
Journal of endocrinological investigation 2009;32(6):512-8.
2009: Anniina Raitila; Marianthi Georgitsi; E Bonora; M Vargiolu; Karoliina Tuppurainen; Markus Makinen; Outi Vierimaa; P I Salmela; Virpi Launonen; Pia Vahteristo; Lauri A Aaltonen; Giovanni Romeo; Auli Karhu
Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer.
Journal of endocrinological investigation 2009;32(5):426-9.
2009: N Raimundo; Sakari Vanharanta; Lauri A Aaltonen; Iiris Hovatta; A Suomalainen
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Oncogene 2009;28(9):1261-73.
2009: Sonia A Melo; Santiago Ropero; Catia Moutinho; Lauri A Aaltonen; Hiroyuki Yamamoto; George A Calin; Simona Rossi; Agustin F Fernandez; Fatima Carneiro; Carla Oliveira; Bibiana Ferreira; Chang-Gong Liu; Alberto Villanueva; Gabriel Capella; Simo Schwartz; Ramin Shiekhattar; Manel Esteller
A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function.
Nature genetics 2009;41(3):365-70.
2009: Claus L Andersen; Lise Lotte Christensen; K Thorsen; T Schepeler; Flemming Brandt Sørensen; Hein Verspaget; R Simon; Mogens Kruhøffer; Lauri A Aaltonen; Søren Laurberg; Torben F Ørntoft
Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer.
British journal of cancer 2009;100(3):511-23.
2008: Marianthi Georgitsi; Elina Heliövaara; Ralf Paschke; Ajith V K Kumar; Marc Tischkowitz; Outi Vierimaa; Pasi Salmela; Timo Sane; Ernesto De Menis; Serafinella P Cannavò; Sadi Gündogdu; Anneke Lucassen; Louise Izatt; Simon Aylwin; Gul Bano; Shirley Hodgson; Christian A Koch; Auli Karhu; Lauri A Aaltonen
Large genomic deletions in AIP in pituitary adenoma predisposition.
The Journal of clinical endocrinology and metabolism 2008;93(10):4146-51.
2008: Marianthi Georgitsi; Ernesto De Menis; Serafinella P Cannavò; Markus Makinen; Karoliina Tuppurainen; Paolo Pauletto; Lorenzo Curtò; Robert J Weil; Ralf Paschke; Grzegorz Zielinski; Anna Wasik; Jan Lubinski; Pia Vahteristo; Auli Karhu; Lauri A Aaltonen
Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas.
Clinical endocrinology 2008;69(4):621-7.
2008: Heli Sammalkorpi; Pia Alhopuro; Iina Niittymäki; Torben F Orntoft; Peter Hokland; Auli Karhu; Lauri A Aaltonen
Mutation analysis of MYH11 in acute myeloid leukemia.
Leukemia & lymphoma 2008;49(9):1829-31.
2008: Sanna Siltanen; Kirsi Syrjäkoski; Rainer Fagerholm; Tarja Ikonen; Peter Lipman; Jacob Mallott; Kaija Holli; Teuvo L J Tammela; Heikki J Järvinen; Jukka-Pekka Mecklin; Kristiina Aittomäki; Carl Blomqvist; Joan E Bailey-Wilson; Heli Nevanlinna; Lauri A Aaltonen; Johanna Schleutker; Pia Vahteristo
ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.
European journal of human genetics : EJHG 2008;16(8):983-91.
2008: Taru Ahvenainen; Heli J Lehtonen; Rainer Lehtonen; Pia Vahteristo; Kristiina Aittomäki; Gareth Baynam; Charlotte Dommering; Charis Eng; Stephen B Gruber; Henrik Grönberg; Rauno Harvima; Riitta Herva; Marja Hietala; Minna Kujala; Helena Kääriäinen; Lone Sunde; Outi Vierimaa; Patrick J Pollard; Ian P M Tomlinson; Erik Björck; Lauri A Aaltonen; Virpi Launonen
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Cancer genetics and cytogenetics 2008;183(2):83-8.
2008: Tatiana V Petrova; Antti Nykänen; Camilla Norrmén; Konstantin I Ivanov; Leif C Andersson; Caj Haglund; Pauli Puolakkainen; Frank Wempe; Harald von Melchner; Gérard Gradwohl; Sakari Vanharanta; Lauri A Aaltonen; Juha Saharinen; Massimiliano Gentile; Alan Clarke; Jussi Taipale; Guillermo Oliver; Kari Alitalo
Transcription factor PROX1 induces colon cancer progression by promoting the transition from benign to highly dysplastic phenotype.
Cancer cell 2008;13(5):407-19.
2008: Pia Alhopuro; Denis Phichith; Sari Tuupanen; Heli Sammalkorpi; Miranda Nybondas; Juha Saharinen; James P Robinson; Zhaohui Yang; Li-Qiong Chen; Torben Orntoft; Jukka-Pekka Mecklin; Heikki Järvinen; Charis Eng; Gabriela Moeslein; Darryl Shibata; richard Houlston; Anneke Lucassen; Ian P M Tomlinson; Virpi Launonen; Ari Ristimäki; Diego Arango; Auli Karhu; H Lee Sweeney; Lauri A Aaltonen
Unregulated smooth-muscle myosin in human intestinal neoplasia.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(14):5513-8.
2008: Paola Alberici; Claudia Gaspar; Patrick Franken; Marcin M Gorski; Ingrid de Vries; Rodney J Scott; Ari Ristimäki; Lauri A Aaltonen; Riccardo Fodde
Smad4 haploinsufficiency: a matter of dosage.
PathoGenetics 2008;1(1):2.
2008: Pia Alhopuro; Auli Karhu; Robert Winqvist; Kati K Waltering; Tapio Visakorpi; Lauri A Aaltonen
Somatic mutation analysis of MYH11 in breast and prostate cancer.
BMC cancer 2008;8():263.
2008: Sari Tuupanen; Iina Niittymäki; Kari Nousiainen; Sakari Vanharanta; Jukka-Pekka Mecklin; Kyösti Nuorva; Heikki Järvinen; Sampsa Hautaniemi; Auli Karhu; Lauri A Aaltonen
Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution.
Cancer research 2008;68(1):14-7.
2007: Qin Yang; Ran Zhang; Izumi Horikawa; Kaori Fujita; Yalda Afshar; Antti Kokko; Päivi Laiho; Lauri A Aaltonen; Curtis C Harris
Functional diversity of human protection of telomeres 1 isoforms in telomere protection and cellular senescence.
Cancer research 2007;67(24):11677-86.
2007: Pia Vahteristo; Antti Kokko; Olli Saksela; Kristiina Aittomäki; Lauri A Aaltonen
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
Journal of medical genetics 2007;44(11):718-20.
2007: Katja Aktan-Collan; Ari Haukkala; Kirsi Pylvänäinen; Heikki J Järvinen; Lauri A Aaltonen; Päivi Peltomäki; E Rantanen; Helena Kääriäinen; Jukka-Pekka Mecklin
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.
Journal of medical genetics 2007;44(11):732-8.
2007: Jukka-Pekka Mecklin; Markku T Aarnio; Esa Läärä; Matti Kairaluoma; Kirsi Pylvänäinen; Päivi Peltomäki; Lauri A Aaltonen; Heikki J Järvinen
Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome.
Gastroenterology 2007;133(4):1093-8.
2007: Heli J Lehtonen; Markus Makinen; Maija Kiuru; Päivi Laiho; Riitta Herva; Ivonne van Minderhout; Pancras Hogendoorn; Cees J Cornelisse; Peter Devilee; Virpi Launonen; Lauri A Aaltonen
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
International journal of cancer. Journal international du cancer 2007;121(6):1386-9.
2007: Karin Birkenkamp-Demtroder; Francisco Mansilla; Flemming Brandt Sørensen; Mogens Kruhøffer; Teresa Cabezón; Lise Lotte Christensen; Lauri A Aaltonen; Hein Verspaget; Torben Falck Ørntoft
Phosphoprotein Keratin 23 accumulates in MSS but not MSI colon cancers in vivo and impacts viability and proliferation in vitro.
Molecular oncology 2007;1(2):181-95.
2007: Anniina Raitila; Marianthi Georgitsi; Auli Karhu; Karoliina Tuppurainen; Markus Makinen; Karin Birkenkamp-Demtröder; Kaisa Salmenkivi; Torben F Orntoft; Johanna Arola; Virpi Launonen; Pia Vahteristo; Lauri A Aaltonen
No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia.
Endocrine-related cancer 2007;14(3):901-6.
2007: Marianthi Georgitsi; Anniina Raitila; Auli Karhu; Rob B van der Luijt; Cora M Aalfs; Timo Sane; Outi Vierimaa; Markus Makinen; Karoliina Tuppurainen; Ralph Paschke; Oliver Gimm; Christian A Koch; Sadi Gündogdu; Anneke Lucassen; Marc Tischkowitz; Louise Izatt; Simon Aylwin; Gul Bano; Shirley Hodgson; Ernesto De Menis; Virpi Launonen; Pia Vahteristo; Lauri A Aaltonen
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
The Journal of clinical endocrinology and metabolism 2007;92(8):3321-5.
2007: Marko Laakso; Sari Tuupanen; Auli Karhu; Rainer Lehtonen; Lauri A Aaltonen; Sampsa Hautaniemi
Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays.
Bioinformatics (Oxford, England) 2007;23(15):1952-61.
2007: Sari Tuupanen; Pia Alhopuro; Jukka-Pekka Mecklin; Heikki Järvinen; Lauri A Aaltonen
No evidence for association of NOD2 R702W and G908R with colorectal cancer.
International journal of cancer. Journal international du cancer 2007;121(1):76-9.
2007: Francisco Mansilla; Karin Birkenkamp-Demtroder; Mogens Kruhøffer; Flemming Brandt Sørensen; Claus L Andersen; Päivi Laiho; Lauri A Aaltonen; Hein Verspaget; Torben F Orntoft
Differential expression of DHHC9 in microsatellite stable and instable human colorectal cancer subgroups.
British journal of cancer 2007;96(12):1896-903.
2007: Heli Sammalkorpi; Pia Alhopuro; Rainer Lehtonen; Jarno Tuimala; Jukka-Pekka Mecklin; Heikki J Järvinen; Josef Jiricny; Auli Karhu; Lauri A Aaltonen
Background mutation frequency in microsatellite-unstable colorectal cancer.
Cancer research 2007;67(12):5691-8.
2007: Claus L Andersen; Troels Schepeler; Kasper Thorsen; Karin Birkenkamp-Demtröder; Francisco Mansilla; Lauri A Aaltonen; Søren Laurberg; Torben F Ørntoft
Clusterin expression in normal mucosa and colorectal cancer.
Molecular & cellular proteomics : MCP 2007;6(6):1039-48.
2007: Sakari Vanharanta; Noel C Wortham; Cordelia Langford; Mona El-Bahrawy; Zephne M van der Spuy; Jari Sjöberg; Rainer Lehtonen; Auli Karhu; Ian P M Tomlinson; Lauri A Aaltonen
Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region.
Genes, chromosomes & cancer 2007;46(5):451-8.
2007: Heli J Lehtonen; Ignacio Blanco; Jose M Piulats; Riitta Herva; Virpi Launonen; Lauri A Aaltonen
Conventional renal cancer in a patient with fumarate hydratase mutation.
Human pathology 2007;38(5):793-6.
2007: Auli Karhu; Lauri A Aaltonen
Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.
Human molecular genetics 2007;16 Spec No 1():R73-9.
2007: Sari Tuupanen; Auli Karhu; Heikki Järvinen; Jukka-Pekka Mecklin; Virpi Launonen; Lauri A Aaltonen
No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer.
Oncogene 2007;26(17):2513-7.
2007: Hannele Erkko; Bing Xia; Jenni Nikkilä; Johanna Schleutker; Kirsi Syrjäkoski; Arto Mannermaa; Anne Kallioniemi; Katri Pylkäs; Sanna-Maria Karppinen; Katrin Rapakko; alexander miron; Qing Sheng; Guilan Li; Henna Mattila; Daphne W Bell; Daniel A Haber; Mervi Grip; Mervi Reiman; Arja Jukkola-Vuorinen; Aki Mustonen; Juha Kere; Lauri A Aaltonen; Veli-Matti Kosma; Vesa Kataja; Ylermi Soini; Ronny Drapkin; David M Livingston; Robert Winqvist
A recurrent mutation in PALB2 in Finnish cancer families.
Nature 2007;446(7133):316-9.
2007: Marianthi Georgitsi; Anniina Raitila; Auli Karhu; Karoliina Tuppurainen; Markus Makinen; Outi Vierimaa; Ralf Paschke; Wolfgang Saeger; Rob B van der Luijt; Timo Sane; Mercedes Robledo; Ernesto De Menis; Robert J Weil; Anna Wasik; Grzegorz Zielinski; Olga Lucewicz; Jan Lubinski; Virpi Launonen; Pia Vahteristo; Lauri A Aaltonen
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(10):4101-5.
2007: Marianthi Georgitsi; Auli Karhu; Robert Winqvist; Tapio Visakorpi; Kati K Waltering; Pia Vahteristo; Virpi Launonen; Lauri A Aaltonen
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.
British journal of cancer 2007;96(2):352-6.
2007: Päivi Laiho; Antti Kokko; Sakari Vanharanta; Reijo Salovaara; Heli Sammalkorpi; Heikki Järvinen; Jukka-Pekka Mecklin; Tuomo J Karttunen; Karoliina Tuppurainen; Veronica Davalos; Simó Schwartz; Diego Arango; Markus Makinen; Lauri A Aaltonen
Serrated carcinomas form a subclass of colorectal cancer with distinct molecular basis.
Oncogene 2007;26(2):312-20.
2007: Heli J Lehtonen; Sanna K Ylisaukko-oja; Maija Kiuru; Auli Karhu; Rainer Lehtonen; Sakari Vanharanta; Anu Jalanko; Lauri A Aaltonen; Virpi Launonen
Stress-induced expression of a novel variant of human fumarate hydratase (FH).
Gene expression 2007;14(2):59-69.
2007: Lauri A Aaltonen
Aryl hydrocarbon receptor-interacting protein and acromegaly.
Hormone research 2007;68 Suppl 5():127-31.
2007: Hafid Alazzouzi; Gianpaolo Suriano; Angel Guerra; Alberto Plaja; Eloi Espín; Manel Armengol; Pia Alhopuro; Sergia Velho; Yasuhisa Shinomura; Juan José González-Aguilera; Hiroyuki Yamamoto; Lauri A Aaltonen; Victor Moreno; Gabriel Capellà; Miguel Angel Peinado; Raquel Seruca; Diego Arango; Simó Schwartz
Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells.
Journal of medical genetics 2007;44(1):75-80.
2006: Gareth Bond; Chiara Menin; Roberta Bertorelle; Pia Alhopuro; Lauri A Aaltonen; Arnold J Levine
MDM2 SNP309 accelerates colorectal tumour formation in women.
Journal of medical genetics 2006;43(12):950-2.
2006: Sanna-Maria Karppinen; Rosa B Barkardottir; K Backenhorn; T Sydenham; Kirsi Syrjäkoski; Johanna Schleutker; Tarja Ikonen; Katri Pylkäs; Katrin Rapakko; Hannele Erkko; Gudrun Johannesdottir; Anne-Marie Gerdes; Mads Thomassen; Bjarni A Agnarsson; M Grip; Anne Kallioniemi; Juha Kere; Lauri A Aaltonen; Adalgeir Arason; P Møller; Torben A Kruse; Ake Borg; Robert Winqvist
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.
Journal of medical genetics 2006;43(11):856-62.
2006: Veronica Davalos; Higinio Dopeso; Julio Castaño; Andrew J Wilson; Felip Vilardell; Jordi Romero-Gimenez; Eloi Espín; Manel Armengol; Gabriel Capella; John M Mariadason; Lauri A Aaltonen; Simo Schwartz; Diego Arango
EPHB4 and survival of colorectal cancer patients.
Cancer research 2006;66(18):8943-8.
2006: Sanna K Ylisaukko-oja; Maija Kiuru; Heli J Lehtonen; Rainer Lehtonen; Eero Pukkala; Johanna Arola; Virpi Launonen; Lauri A Aaltonen
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
International journal of cancer. Journal international du cancer 2006;119(2):283-7.
2006: Outi Kilpivaara; Pia Alhopuro; Pia Vahteristo; Lauri A Aaltonen; Heli Nevanlinna
CHEK2 I157T associates with familial and sporadic colorectal cancer.
Journal of medical genetics 2006;43(7):e34.
2006: Sanna K Ylisaukko-oja; Cezary Cybulski; Rainer Lehtonen; Maija Kiuru; Joanna Matyjasik; Anna Szymañska; Jolanta Szymañska-Pasternak; Lars Dyrskjot; Ralf Butzow; Torben F Orntoft; Virpi Launonen; Jan Lubiñski; Lauri A Aaltonen
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
European journal of human genetics : EJHG 2006;14(7):880-3.
2006: Heli J Lehtonen; Maija Kiuru; Sanna K Ylisaukko-oja; Reijo Salovaara; Riitta Herva; Pasi A Koivisto; Outi Vierimaa; Kristiina Aittomäki; Eero Pukkala; Virpi Launonen; Lauri A Aaltonen
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Journal of medical genetics 2006;43(6):523-6.
2006: Outi Vierimaa; Marianthi Georgitsi; Rainer Lehtonen; Pia Vahteristo; Antti Kokko; Anniina Raitila; Karoliina Tuppurainen; Tapani Ebeling; Pasi Salmela; Ralf Paschke; Sadi Gündogdu; Ernesto De Menis; Markus Makinen; Virpi Launonen; Auli Karhu; Lauri A Aaltonen
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
Science (New York, N.Y.) 2006;312(5777):1228-30.
2006: Emmanouil Volikos; J Robinson; Kristiina Aittomäki; J-P Mecklin; H Järvinen; Anne Marie Westerman; F W M de Rooji; Tilman Vogel; G Moeslein; Virpi Launonen; Ian P M Tomlinson; A R J Silver; Lauri A Aaltonen
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
Journal of medical genetics 2006;43(5):e18.
2006: Santiago Ropero; Mario F Fraga; Esteban Ballestar; Richard Hamelin; Hiroyuki Yamamoto; Manuel Boix-Chornet; Rosalia Caballero; Miguel Alaminos; Fernando Setien; Maria Fe Paz; Michel Herranz; José Palacios; Diego Arango; Torben F Orntoft; Lauri A Aaltonen; Simó Schwartz; Manel Esteller
A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition.
Nature genetics 2006;38(5):566-9.
2006: Antti Kokko; Sanna S K Ylisaukko-Oja; Maija Kiuru; Maarit Takatalo; Paula Salmikangas; Jarno Tuimala; Diego Arango; Auli Karhu; Lauri A Aaltonen; Jussi Jäntti
Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.
International journal of cancer. Journal international du cancer 2006;118(6):1340-5.
2006: Tuija Hienonen; Reijo Salovaara; Jukka-Pekka Mecklin; Heikki Järvinen; Auli Karhu; Lauri A Aaltonen
Preferential amplification of AURKA 91A (Ile31) in familial colorectal cancers.
International journal of cancer. Journal international du cancer 2006;118(2):505-8.
2006: Lauri A Aaltonen
[Not Available].
Duodecim; lääketieteellinen aikakauskirja 2006;122(18):2221-30.
2006: Antti Kokko; Päivi Laiho; Rainer Lehtonen; Sanna Korja; Luis Carvajal Carmona; Heikki Järvinen; Jukka-Pekka Mecklin; Charis Eng; Johanna Schleutker; Ian P M Tomlinson; Pia Vahteristo; Lauri A Aaltonen
EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.
BMC cancer 2006;6():145.
2006: Sakari Vanharanta; Patrick J Pollard; Heli J Lehtonen; Päivi Laiho; Jari Sjöberg; Arto Leminen; Kristiina Aittomäki; Johanna Arola; Mogens Kruhoffer; Torben F Orntoft; Ian P M Tomlinson; Maija Kiuru; Diego Arango; Lauri A Aaltonen
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.
Human molecular genetics 2006;15(1):97-103.
2005: Kevin Sweet; Joseph Willis; Xiao-Ping Zhou; Carol J Gallione; Takeshi Sawada; Pia Alhopuro; Sok Kean Khoo; Attila Patocs; Cossette Martin; Scott Bridgeman; John W Heinz; Robert Pilarski; Rainer Lehtonen; Thomas W Prior; Thierry Frebourg; Bin Tean Teh; Douglas A Marchuk; Lauri A Aaltonen; Charis Eng
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
JAMA : the journal of the American Medical Association 2005;294(19):2465-73.
2005: Hafid Alazzouzi; Veronica Davalos; Antti Kokko; Enric Domingo; Stefan M Woerner; Andrew J Wilson; Lars Konrad; Päivi Laiho; Eloi Espín; Manel Armengol; Kohzoh Imai; Hiroyuki Yamamoto; John M Mariadason; Johannes Gebert; Lauri A Aaltonen; Simo Schwartz; Diego Arango
Mechanisms of inactivation of the receptor tyrosine kinase EPHB2 in colorectal tumors.
Cancer research 2005;65(22):10170-3.
2005: Kaisa Sotamaa; Sandya Liyanarachchi; Jukka-Pekka Mecklin; Heikki Järvinen; Lauri A Aaltonen; Päivi Peltomäki; Albert de La Chapelle
p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome.
Clinical cancer research : an official journal of the American Association for Cancer Research 2005;11(19 Pt 1):6840-4.
2005: Pia Alhopuro; Antony R Parker; Rainer Lehtonen; Susa Enholm; Heikki J Järvinen; Jukka-Pekka Mecklin; Auli Karhu; James R Eshleman; Lauri A Aaltonen
A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.
Human mutation 2005;26(4):393.
2005: Sakari Vanharanta; Noel C Wortham; Päivi Laiho; Jari Sjöberg; Kristiina Aittomäki; Johanna Arola; Ian P M Tomlinson; Auli Karhu; Diego Arango; Lauri A Aaltonen
7q deletion mapping and expression profiling in uterine fibroids.
Oncogene 2005;24(43):6545-54.
2005: Pia Alhopuro; Hafid Alazzouzi; Heli Sammalkorpi; Verónica Dávalos; Reijo Salovaara; Akseli Hemminki; Heikki Järvinen; Jukka-Pekka Mecklin; Simo Schwartz; Lauri A Aaltonen; Diego Arango
SMAD4 levels and response to 5-fluorouracil in colorectal cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2005;11(17):6311-6.
2005: Diego Arango; Päivi Laiho; Antti Kokko; Pia Alhopuro; Heli Sammalkorpi; Reijo Salovaara; Daniel Nicorici; Sampsa Hautaniemi; Hafid Alazzouzi; Jukka-Pekka Mecklin; Heikki Järvinen; Akseli Hemminki; Jaakko Astola; Simo Schwartz; Lauri A Aaltonen
Gene-expression profiling predicts recurrence in Dukes' C colorectal cancer.
Gastroenterology 2005;129(3):874-84.
2005: Pia Alhopuro; Sanna K Ylisaukko-oja; Walter J Koskinen; Petri Bono; Johanna Arola; Heikki J Järvinen; Jukka-Pekka Mecklin; Timo Atula; Risto Kontio; Antti A Mäkitie; S Suominen; Ilmo Leivo; Pia Vahteristo; Leena-Maija Aaltonen; Lauri A Aaltonen
The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck.
Journal of medical genetics 2005;42(9):694-8.
2005: Heather Hampel; Julie A Stephens; Eero Pukkala; Risto Sankila; Lauri A Aaltonen; Jukka-Pekka Mecklin; Albert de La Chapelle
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.
Gastroenterology 2005;129(2):415-21.
2005: Mogens Kruhøffer; Jens Ledet Jensen; Päivi Laiho; Lars Dyrskjøt; Reijo Salovaara; Diego Arango; Karin Birkenkamp-Demtroder; Flemming Brandt Sørensen; Lise Lotte Christensen; L Buhl; Jukka-Pekka Mecklin; Heikki Järvinen; Thomas Thykjaer; Friedrik P Wikman; F Bech-Knudsen; M Juhola; Nina N Nupponen; Søren Laurberg; Claus L Andersen; Lauri A Aaltonen; Torben F Ørntoft
Gene expression signatures for colorectal cancer microsatellite status and HNPCC.
British journal of cancer 2005;92(12):2240-8.
2005: Enric Domingo; Renée C Niessen; Carla Oliveira; Pia Alhopuro; Cátia Moutinho; Eloi Espín; Manel Armengol; Rolf Sijmons; Jan H Kleibeuker; Raquel Seruca; Lauri A Aaltonen; Kohzoh Imai; Hiroyuki Yamamoto; Simó Schwartz; Robert M W Hofstra
BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.
Oncogene 2005;24(24):3995-8.
2005: Tuija Hienonen; Heli Sammalkorpi; Susa Enholm; Pia Alhopuro; Thomas D Barber; Rainer Lehtonen; Nina N Nupponen; Heli J Lehtonen; Reijo Salovaara; Jukka-Pekka Mecklin; Heikki Järvinen; Riitta Koistinen; Diego Arango; Virpi Launonen; Bert Vogelstein; Auli Karhu; Lauri A Aaltonen
Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancers.
Cancer research 2005;65(11):4607-13.
2005: Heli Rasinperä; Carol Forsblom; Nabil Sabri Enattah; P Halonen; K Salo; M Victorzon; Jukka-Pekka Mecklin; Heikki Järvinen; Susa Enholm; Gabrielle Sellick; Hafid Alazzouzi; richard Houlston; J Robinson; P-H Groop; Ian Tomlinson; Simó Schwartz; Lauri A Aaltonen; Irma Järvelä
The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.
Gut 2005;54(5):643-7.
2005: Hafid Alazzouzi; Pia Alhopuro; Reijo Salovaara; Heli Sammalkorpi; Heikki Järvinen; Jukka-Pekka Mecklin; Akseli Hemminki; Simo Schwartz; Lauri A Aaltonen; Diego Arango
SMAD4 as a prognostic marker in colorectal cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2005;11(7):2606-11.
2005: Pia Vahteristo; S Ojala; Anitta Tamminen; Johanna Tommiska; H Sammalkorpi; S Kiuru-Kuhlefelt; Hannaleena Eerola; Lauri A Aaltonen; Kristiina Aittomäki; Heli Nevanlinna
No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.
Journal of medical genetics 2005;42(4):e22.
2005: Maija Kiuru; Rainer Lehtonen; Hannaleena Eerola; Kristiina Aittomäki; Carl Blomqvist; Heli Nevanlinna; Lauri A Aaltonen; Virpi Launonen
No germline FH mutations in familial breast cancer patients.
European journal of human genetics : EJHG 2005;13(4):506-9.
2005: Pia Alhopuro; Pekka Katajisto; Rainer Lehtonen; Sanna K Ylisaukko-oja; L Näätsaari; Auli Karhu; Anne Marie Westerman; J H Paul Wilson; Felix W M de Rooij; Tilman Vogel; G Moeslein; Ian P M Tomlinson; Lauri A Aaltonen; Tomi Mäkelä; Virpi Launonen
Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome.
British journal of cancer 2005;92(6):1126-9.
2005: Karin Birkenkamp-Demtroder; Sanne Harder Olesen; Flemming Brandt Sørensen; Søren Laurberg; Päivi Laiho; Lauri A Aaltonen; Torben F Orntoft
Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid.
Gut 2005;54(3):374-84.
2005: Peter Calabrese; Jukka-Pekka Mecklin; Heikki J Järvinen; Lauri A Aaltonen; Simon Tavaré; Darryl Shibata
Numbers of mutations to different types of colorectal cancer.
BMC cancer 2005;5():126.
2005: Tuija Hienonen; Heli Sammalkorpi; P Isohanni; R Versteeg; Riitta Karikoski; Lauri A Aaltonen
A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma.
Journal of medical genetics 2005;42(1):e3.
2004: Pia Alhopuro; Taru Ahvenainen; Jukka-Pekka Mecklin; Matti Juhola; Heikki J Järvinen; Auli Karhu; Lauri A Aaltonen
NOD2 3020insC alone is not sufficient for colorectal cancer predisposition.
Cancer research 2004;64(20):7245-7.
2004: Carla Oliveira; Jantine L Westra; Diego Arango; Miina Ollikainen; Enric Domingo; Ana Ferreira; Sérgia Velho; Renée C Niessen; Kristina Lagerstedt; Pia Alhopuro; Päivi Laiho; Isabel Veiga; Manuel Teixeira; M J L Ligtenberg; Jan H Kleibeuker; Rolf Sijmons; John T M Plukker; Kohzoh Imai; Pedro Lage; Richard Hamelin; Cristina Albuquerque; Simo Schwartz; Annika Lindblom; Paivi Peltomaki; Hiroyuki Yamamoto; Lauri A Aaltonen; Raquel Seruca; Robert M W Hofstra
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.
Human molecular genetics 2004;13(19):2303-11.
2004: Enric Domingo; Päivi Laiho; Miina Ollikainen; Mafalda Pinto; L Wang; A J French; Jantine L Westra; T Frebourg; Eloi Espín; Manel Armengol; Richard Hamelin; Hiroyuki Yamamoto; Robert M W Hofstra; Raquel Seruca; Annika Lindblom; Päivi Peltomäki; S N Thibodeau; Lauri A Aaltonen; Simó Schwartz
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.
Journal of medical genetics 2004;41(9):664-8.
2004: James R Howe; Mohamed G Sayed; Abul F Ahmed; John C Ringold; J Larsen-Haidle; Anders Merg; Frank A Mitros; C A Vaccaro; GM Petersen; Francis M Giardiello; Susan Tinley; Lauri A Aaltonen; Henry T Lynch
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
Journal of medical genetics 2004;41(7):484-91.
2004: Peter Calabrese; Jen-Lan Tsao; Yasushi Yatabe; Reijo Salovaara; Jukka-Pekka Mecklin; Heikki J Järvinen; Lauri A Aaltonen; Simon Tavaré; Darryl Shibata
Colorectal pretumor progression before and after loss of DNA mismatch repair.
The American journal of pathology 2004;164(4):1447-53.
2004: Rainer Lehtonen; Maija Kiuru; Sakari Vanharanta; Jari Sjöberg; Leena-Maija Aaltonen; Kristiina Aittomäki; Johanna Arola; Ralf Butzow; Charis Eng; Kirsti Husgafvel-Pursiainen; Jorma Isola; Heikki Järvinen; Pasi A Koivisto; Jukka-Pekka Mecklin; Päivi Peltomäki; Reijo Salovaara; Veli-Matti Wasenius; Auli Karhu; Virpi Launonen; Nina N Nupponen; Lauri A Aaltonen
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
The American journal of pathology 2004;164(1):17-22.
2004: Sakari Vanharanta; Mary Buchta; Sarah R McWhinney; Sanna K Virta; Mariola Peçzkowska; Carl D Morrison; Rainer Lehtonen; Andrzej Januszewicz; Heikki Järvinen; Matti Juhola; Jukka-Pekka Mecklin; Eero Pukkala; Riitta Herva; Maija Kiuru; Nina N Nupponen; Lauri A Aaltonen; Hartmut P H Neumann; Charis Eng
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
American journal of human genetics 2004;74(1):153-9.
2003: N Afrina Alam; Patricia Gorman; Emma Jaeger; David Kelsell; Irene M Leigh; R Ratnavel; M E Murdoch; richard Houlston; Lauri A Aaltonen; Rebecca R Roylance; Ian P M Tomlinson
Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.
Cancer genetics and cytogenetics 2003;147(2):121-7.
2003: Lara Lipton; Stephanie Halford; Victoria Johnson; Marco R Novelli; Angela Jones; Carole Cummings; Ella Barclay; Oliver Sieber; Amir Sadat; Marie-Luise Bisgaard; Shirley V Hodgson; Lauri A Aaltonen; Huw J W Thomas; Ian P M Tomlinson
Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.
Cancer research 2003;63(22):7595-9.
2003: Outi Kilpivaara; P Laiho; Lauri A Aaltonen; Heli Nevanlinna
CHEK2 1100delC and colorectal cancer.
Journal of medical genetics 2003;40(10):e110.
2003: Susa Enholm; Tuija Hienonen; Anu Suomalainen; Lara Lipton; Ian Tomlinson; Vesa Kärjä; Matti Eskelinen; Jukka-Pekka Mecklin; Auli Karhu; Heikki J Järvinen; Lauri A Aaltonen
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.
The American journal of pathology 2003;163(3):827-32.
2003: Tuija Hienonen; Päivi Laiho; Reijo Salovaara; Jukka-Pekka Mecklin; Heikki Järvinen; Pertti Sistonen; Päivi Peltomäki; Rainer Lehtonen; Nina N Nupponen; Virpi Launonen; Auli Karhu; Lauri A Aaltonen
Little evidence for involvement of MLH3 in colorectal cancer predisposition.
International journal of cancer. Journal international du cancer 2003;106(2):292-6.
2003: Päivi Laiho; Tuija Hienonen; Jukka-Pekka Mecklin; Heikki Järvinen; Auli Karhu; Virpi Launonen; Lauri A Aaltonen
Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation.
Journal of medical genetics 2003;40(5):e73.
2003: Päivi Laiho; Tuija Hienonen; Auli Karhu; Lara Lipton; Yan Aalto; Huw J W Thomas; Karin Birkenkamp-Demtroder; Shirley Hodgson; Reijo Salovaara; Jukka-Pekka Mecklin; Heikki Järvinen; Sakari Knuutila; Stephanie Halford; Torben F Ørntoft; Ian Tomlinson; Virpi Launonen; richard Houlston; Lauri A Aaltonen
Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases.
Oncogene 2003;22(14):2206-14.
2003: Rainer Lehtonen; Maija Kiuru; Annika Rökman; Tarja Ikonen; J M Cunningham; D J Schaid; Mika P Matikainen; Nina N Nupponen; Auli Karhu; Olli Kallioniemi; S N Thibodeau; Johanna Schleutker; Lauri A Aaltonen
No fumarate hydratase (FH) mutations in hereditary prostate cancer.
Journal of medical genetics 2003;40(3):e19.
2003: Charis Eng; Maija Kiuru; Magali J Fernandez; Lauri A Aaltonen
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Nature reviews. Cancer 2003;3(3):193-202.
2003: Oliver Sieber; Lara Lipton; Michael Crabtree; Karl Heinimann; Paulo Fidalgo; R K S Phillips; Marie-Luise Bisgaard; Torben F Orntoft; Lauri A Aaltonen; Shirley V Hodgson; Huw J W Thomas; Ian P M Tomlinson
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
The New England journal of medicine 2003;348(9):791-9.
2003: Shantie Jagmohan-Changur; Taija Poikonen; Susa Vilkki; Virpi Launonen; Friedrik P Wikman; Torben F Orntoft; Pål Møller; H F A Vasen; Carli Tops; Richard D Kolodner; Jukka-Pekka Mecklin; Heikki Järvinen; Stephen Bevan; richard Houlston; Lauri A Aaltonen; Riccardo Fodde; Juul Wijnen; Auli Karhu
EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer.
Cancer research 2003;63(1):154-8.
2002: Susa Vilkki; Virpi Launonen; Auli Karhu; Pertti Sistonen; I Västrik; Lauri A Aaltonen
Screening for microsatellite instability target genes in colorectal cancers.
Journal of medical genetics 2002;39(11):785-9.
2002: Derrick J Rossi; Antti Ylikorkala; Nina Korsisaari; Reijo Salovaara; Keijo Luukko; Virpi Launonen; Mark Henkemeyer; Ari Ristimaki; Lauri A Aaltonen; Tomi P Makela
Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(19):12327-32.
2002: Maija Kiuru; Rainer Lehtonen; Johanna Arola; Reijo Salovaara; Heikki Järvinen; Kristiina Aittomäki; Jari Sjöberg; Tapio Visakorpi; Sakari Knuutila; Jorma Isola; Brett Delahunt; Riitta Herva; Virpi Launonen; Auli Karhu; Lauri A Aaltonen
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Cancer research 2002;62(16):4554-7.
2002: Xiao-Ping Zhou; Anu Loukola; Reijo Salovaara; Minna Nystrom-Lahti; Päivi Peltomäki; Albert de La Chapelle; Lauri A Aaltonen; Charis Eng
PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers.
The American journal of pathology 2002;161(2):439-47.
2002: Karin Birkenkamp-Demtroder; Lise Lotte Christensen; Sanne Harder Olesen; Casper Frederiksen; Päivi Laiho; Lauri A Aaltonen; Søren Laurberg; Flemming Brandt Sørensen; Rikke Hagemann; Torben F Ørntoft
Gene expression in colorectal cancer.
Cancer research 2002;62(15):4352-63.
2002: Reijo Salovaara; S Roth; Anu Loukola; Virpi Launonen; Pertti Sistonen; E Avizienyte; Paula Kristo; Heikki Järvinen; S Souchelnytskyi; Maarit Sarlomo-Rikala; Lauri A Aaltonen
Frequent loss of SMAD4/DPC4 protein in colorectal cancers.
Gut 2002;51(1):56-9.
2002: Laura Renkonen-Sinisalo; P Sipponen; Markku T Aarnio; R Julkunen; Lauri A Aaltonen; Seppo Sarna; Heikki J Järvinen; Jukka-Pekka Mecklin
No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer.
Scandinavian journal of gastroenterology 2002;37(5):574-7.
2002: James R Howe; Jason Shellnut; Brian Wagner; John C Ringold; Mohamed G Sayed; Abul F Ahmed; Patrick M Lynch; Christopher I Amos; Pertti Sistonen; Lauri A Aaltonen
Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot.
American journal of human genetics 2002;70(5):1357-62.
2002: Kyoung-Mee Kim; Reijo Salovaara; Jukka-Pekka Mecklin; Heikki J Järvinen; Lauri A Aaltonen; Darryl Shibata
PolyA deletions in hereditary nonpolyposis colorectal cancer: mutations before a gatekeeper.
The American journal of pathology 2002;160(4):1503-6.
2002: Päivi Laiho; Virpi Launonen; Päivi Lahermo; Manel Esteller; Mingzhou Guo; James G Herman; Jukka-Pekka Mecklin; Heikki Järvinen; Pertti Sistonen; Kyoung-Mee Kim; Darryl Shibata; richard Houlston; Lauri A Aaltonen
Low-level microsatellite instability in most colorectal carcinomas.
Cancer research 2002;62(4):1166-70.
2001: Hidewaki Nakagawa; Gerard J Nuovo; Emmanuel E Zervos; Edward W Martin; Reijo Salovaara; Lauri A Aaltonen; Albert de La Chapelle
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development.
Cancer research 2001;61(19):6991-5.
2001: Kelly Woodford-Richens; Andrew J Rowan; Richard Poulsom; S Bevan; R Salovaara; Lauri A Aaltonen; richard Houlston; N A Wright; Ian P M Tomlinson
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
The American journal of pathology 2001;159(4):1293-300.
2001: Xiao-Ping Zhou; Kelly Woodford-Richens; Rainer Lehtonen; K Kurose; Micheala A Aldred; Heather Hampel; Virpi Launonen; S Virta; Robert Pilarski; Reijo Salovaara; Walter F Bodmer; B A Conrad; M Dunlop; Shirley V Hodgson; T Iwama; Heikki Järvinen; Ilmo Kellokumpu; J C Kim; B Leggett; D Markie; Jukka-Pekka Mecklin; Kay Neale; Robin Phillips; Juan Piris; P Rozen; richard Houlston; Lauri A Aaltonen; Ian P M Tomlinson; Charis Eng
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
American journal of human genetics 2001;69(4):704-11.
2001: Maija Kiuru; Virpi Launonen; Marja Hietala; Kristiina Aittomäki; Outi Vierimaa; Reijo Salovaara; Johanna Arola; Eero Pukkala; Pertti Sistonen; Riitta Herva; Lauri A Aaltonen
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.
The American journal of pathology 2001;159(3):825-9.
2001: Pia Vahteristo; Anitta Tamminen; P Karvinen; Hannaleena Eerola; C Eklund; Lauri A Aaltonen; Carl Blomqvist; Kristiina Aittomäki; Heli Nevanlinna
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.
Cancer research 2001;61(15):5718-22.
2001: Heini Lassus; Reijo Salovaara; Lauri A Aaltonen; Ralf Butzow
Allelic analysis of serous ovarian carcinoma reveals two putative tumor suppressor loci at 18q22-q23 distal to SMAD4, SMAD2, and DCC.
The American journal of pathology 2001;159(1):35-42.
2001: Anu Loukola; K Eklin; Päivi Laiho; Reijo Salovaara; Paula Kristo; Heikki Järvinen; Jukka-Pekka Mecklin; Virpi Launonen; Lauri A Aaltonen
Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC).
Cancer research 2001;61(11):4545-9.
2001: Susa Vilkki; J L Tsao; Anu Loukola; Minna Pöyhönen; Outi Vierimaa; Riitta Herva; Lauri A Aaltonen; D Shibata
Extensive somatic microsatellite mutations in normal human tissue.
Cancer research 2001;61(11):4541-4.
2001: Kelly Woodford-Richens; Stephanie Halford; Andrew Rowan; S Bevan; Lauri A Aaltonen; Harpreet Wasan; David C Bicknell; Walter F Bodmer; richard Houlston; Ian P M Tomlinson
CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers.
British journal of cancer 2001;84(10):1314-6.
2001: Heini Lassus; Mika P E Laitinen; Mikko Anttonen; Markku Heikinheimo; Lauri A Aaltonen; Olli Ritvos; Ralf Butzow
Comparison of serous and mucinous ovarian carcinomas: distinct pattern of allelic loss at distal 8p and expression of transcription factor GATA-4.
Laboratory investigation; a journal of technical methods and pathology 2001;81(4):517-26.
2001: Virpi Launonen; Outi Vierimaa; Maija Kiuru; Jorma Isola; S Roth; Eero Pukkala; Pertti Sistonen; Riitta Herva; Lauri A Aaltonen
Inherited susceptibility to uterine leiomyomas and renal cell cancer.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(6):3387-92.
2001: Lauri A Aaltonen; S Roth; Charis Eng
18 Direct Sequencing for Cowden Syndrome Gene PTEN (MMAC1) Mutations.
Methods in molecular medicine 2001;50():185-93.
2001: Lauri A Aaltonen; E Avizienyte
17 Direct Sequencing for Peutz-Jeghers Gene LKB1 (STK11) Mutations.
Methods in molecular medicine 2001;50():175-83.
2001: Lauri A Aaltonen; S Roth
Direct Sequencing for Juvenile Polyposis Gene SMAD4/DPC4 Mutations.
Methods in molecular medicine 2001;50():167-74.
2001: E Avizienyte; Virpi Launonen; Reijo Salovaara; T Kiviluoto; Lauri A Aaltonen
E-cadherin is not frequently mutated in hereditary gastric cancer.
Journal of medical genetics 2001;38(1):49-52.
2001: Darryl Shibata; Lauri A Aaltonen
Genetic predisposition and somatic diversification in tumor development and progression.
Advances in cancer research 2001;80():83-114.
2000: Akseli Hemminki; Jukka-Pekka Mecklin; Heikki Järvinen; Lauri A Aaltonen; Heikki Joensuu
Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy.
Gastroenterology 2000;119(4):921-8.
2000: S Roth; Päivi Laiho; Reijo Salovaara; Virpi Launonen; Lauri A Aaltonen
No SMAD4 hypermethylation in colorectal cancer.
British journal of cancer 2000;83(8):1015-9.
2000: Lauri A Aaltonen
Hereditary intestinal cancer.
Seminars in cancer biology 2000;10(4):289-98.
2000: Anu Loukola; Susa Vilkki; J Singh; Virpi Launonen; Lauri A Aaltonen
Germline and somatic mutation analysis of MLH3 in MSI-positive colorectal cancer.
The American journal of pathology 2000;157(2):347-52.
2000: Reijo Salovaara; Anu Loukola; Paula Kristo; Helena Kääriäinen; H Ahtola; Matti Eskelinen; N Härkönen; Risto Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; Heikki Järvinen; Jukka-Pekka Mecklin; Lauri A Aaltonen; Albert de La Chapelle
Population-based molecular detection of hereditary nonpolyposis colorectal cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2000;18(11):2193-200.
2000: Heikki J Järvinen; Markku T Aarnio; Harri Mustonen; Katja Aktan-Collan; Lauri A Aaltonen; Päivi Peltomäki; Albert de La Chapelle; Jukka-Pekka Mecklin
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.
Gastroenterology 2000;118(5):829-34.
2000: S Roth; M Johansson; Anu Loukola; Päivi Peltomäki; Heikki Järvinen; Jukka-Pekka Mecklin; Lauri A Aaltonen
Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal.
Journal of medical genetics 2000;37(4):298-300.
2000: Virpi Launonen; E Avizienyte; Anu Loukola; Päivi Laiho; Reijo Salovaara; Heikki Järvinen; Jukka-Pekka Mecklin; A Oku; Miyuki Shimane; H C Kim; J C Kim; Jun-ichi Nezu; Lauri A Aaltonen
No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas.
Cancer research 2000;60(3):546-8.
2000: Jen-Lan Tsao; Yasushi Yatabe; Reijo Salovaara; Heikki J Järvinen; Jukka-Pekka Mecklin; Lauri A Aaltonen; Simon Tavaré; Darryl Shibata
Genetic reconstruction of individual colorectal tumor histories.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(3):1236-41.
2000: Manel Esteller; E Avizienyte; P G Corn; Ragnhild A Lothe; Stephen B Baylin; Lauri A Aaltonen; James G Herman
Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome.
Oncogene 2000;19(1):164-8.
1999: Anu Loukola; Reijo Salovaara; Paula Kristo; Anu-Liisa Moisio; Helena Kääriäinen; H Ahtola; Matti Eskelinen; N Härkönen; Risto Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; Heikki Järvinen; Jukka-Pekka Mecklin; Albert de La Chapelle; Lauri A Aaltonen
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.
The American journal of pathology 1999;155(6):1849-53.
1999: A Riccio; Lauri A Aaltonen; A K Godwin; Anu Loukola; Antonio Percesepe; Reijo Salovaara; Valeria Masciullo; Maurizio Genuardi; M Paravatou-Petsotas; Daniel E Bassi; B A Ruggeri; Andres Klein-Szanto; J R Testa; Giovanni Neri; Alfonso Bellacosa
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.
Nature genetics 1999;23(3):266-8.
1999: Anu Loukola; Albert de La Chapelle; Lauri A Aaltonen
Strategies for screening for hereditary non-polyposis colorectal cancer.
Journal of medical genetics 1999;36(11):819-22.
1999: Shannon Kuismanen; MT Holmberg; Reijo Salovaara; Pascal Schweizer; Lauri A Aaltonen; Albert de La Chapelle; Minna Nyström-Lahti; Päivi Peltomäki
Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(22):12661-6.
1999: S Roth; Pertti Sistonen; Reijo Salovaara; Akseli Hemminki; Anu Loukola; M Johansson; E Avizienyte; K A Cleary; P Lynch; C I Amos; Paula Kristo; Jukka-Pekka Mecklin; Ilmo Kellokumpu; Heikki Järvinen; Lauri A Aaltonen
SMAD genes in juvenile polyposis.
Genes, chromosomes & cancer 1999;26(1):54-61.
1999: M Wolf; Maija Tarkkanen; Theo J M Hulsebos; Marcelo L Larramendy; Anne Forus; Ola Myklebost; Lauri A Aaltonen; Inkeri Elomaa; Sakari Knuutila
Characterization of the 17p amplicon in human sarcomas: microsatellite marker analysis.
International journal of cancer. Journal international du cancer 1999;82(3):329-33.
1999: Jen-Lan Tsao; Simon Tavaré; Reijo Salovaara; J R Jass; Lauri A Aaltonen; Darryl Shibata
Colorectal adenoma and cancer divergence. Evidence of multilineage progression.
The American journal of pathology 1999;154(6):1815-24.
1999: ZJ Wang; M Churchman; E Avizienyte; C McKeown; S Davies; D G Evans; A Ferguson; I Ellis; W H Xu; ZY Yan; Lauri A Aaltonen; Ian P M Tomlinson
Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients.
Journal of medical genetics 1999;36(5):365-8.
1999: Markku T Aarnio; Risto Sankila; Eero Pukkala; Reijo Salovaara; Lauri A Aaltonen; Albert de La Chapelle; Päivi Peltomäki; Jukka-Pekka Mecklin; Heikki J Järvinen
Cancer risk in mutation carriers of DNA-mismatch-repair genes.
International journal of cancer. Journal international du cancer 1999;81(2):214-8.
1999: E Avizienyte; Anu Loukola; S Roth; Akseli Hemminki; Maija Tarkkanen; Reijo Salovaara; Johanna Arola; Ralf Bützow; Kirsti Husgafvel-Pursiainen; Arto Kokkola; Heikki Järvinen; Lauri A Aaltonen
LKB1 somatic mutations in sporadic tumors.
The American journal of pathology 1999;154(3):677-81.
1999: Antti Ylikorkala; E Avizienyte; Ian P M Tomlinson; Marjaana Tiainen; S Roth; Anu Loukola; Akseli Hemminki; M Johansson; Pertti Sistonen; D Markie; Kay Neale; Robin Phillips; P Zauber; T Twama; J Sampson; Heikki Järvinen; Tomi Mäkelä; Lauri A Aaltonen
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
Human molecular genetics 1999;8(1):45-51.
1999: Thomas W Prior; R B Chadwick; Audrey C Papp; A N Arcot; A M Isa; Dennis K Pearl; G Stemmermann; Antonio Percesepe; Anu Loukola; Lauri A Aaltonen; Albert de La Chapelle
The I1307K polymorphism of the APC gene in colorectal cancer.
Gastroenterology 1999;116(1):58-63.
1998: Jen-Lan Tsao; J Zhang; Reijo Salovaara; Z H Li; Heikki J Järvinen; Jukka-Pekka Mecklin; Lauri A Aaltonen; Darryl Shibata
Tracing cell fates in human colorectal tumors from somatic microsatellite mutations: evidence of adenomas with stem cell architecture.
The American journal of pathology 1998;153(4):1189-200.
1998: Antonio Percesepe; Paula Kristo; Lauri A Aaltonen; Maurizio Ponz de Leon; Albert de La Chapelle; Päivi Peltomäki
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.
Oncogene 1998;17(2):157-63.
1998: Lauri A Aaltonen; Reijo Salovaara; Paula Kristo; F Canzian; Akseli Hemminki; Päivi Peltomäki; R B Chadwick; Helena Kääriäinen; Matti Eskelinen; Heikki Järvinen; Jukka-Pekka Mecklin; Albert de La Chapelle
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.
The New England journal of medicine 1998;338(21):1481-7.
1998: E Avizienyte; S Roth; Anu Loukola; Akseli Hemminki; Ragnhild A Lothe; Anna E Stenwig; Sophie D Fosså; Reijo Salovaara; Lauri A Aaltonen
Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors.
Cancer research 1998;58(10):2087-90.
1998: James R Howe; S Roth; John C Ringold; Robert W Summers; H J Järvinen; P Sistonen; I P Tomlinson; R S Houlston; S Bevan; Frank A Mitros; Edwin M Stone; Lauri A Aaltonen
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Science (New York, N.Y.) 1998;280(5366):1086-8.
1998: S Roth; Paula Kristo; Annika Auranen; M Shayehgi; Sheila Seal; N Collins; Rita Barfoot; Nazneen Rahman; Pekka Klemi; Seija Grénman; Laura Sarantaus; Heli Nevanlinna; Ralf Butzow; Alan Ashworth; Michael R Stratton; Lauri A Aaltonen
A missense mutation in the BRCA2 gene in three siblings with ovarian cancer.
British journal of cancer 1998;77(8):1199-202.
1998: A Hemminki; P Höglund; Eero Pukkala; Reijo Salovaara; Heikki Järvinen; Reijo Norio; Lauri A Aaltonen
Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene.
Oncogene 1998;16(5):681-4.
1998: Akseli Hemminki; D Markie; Ian Tomlinson; E Avizienyte; S Roth; Anu Loukola; Graham R Bignell; William Warren; M Aminoff; Pia Höglund; Heikki Järvinen; Paula Kristo; Katarina Pelin; Maaret Ridanpää; Reijo Salovaara; T Toro; Walter Bodmer; S Olschwang; A S Olsen; Michael R Stratton; Albert de La Chapelle; Lauri A Aaltonen
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Nature 1998;391(6663):184-7.
1998: Akseli Hemminki; E Avizienyte; S Roth; Anu Loukola; Lauri A Aaltonen; Heikki Järvinen; Albert de La Chapelle
[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome].
Duodecim; lääketieteellinen aikakauskirja 1998;114(7):667-8.
1998: Lauri A Aaltonen
Molecular epidemiology of hereditary nonpolyposis colorectal cancer in Finland.
Recent results in cancer research. Fortschritte der Krebsforschung. Progrès dans les recherches sur le cancer 1998;154():306-11.
1997: Deborah J Marsh; S Roth; Kathryn L Lunetta; Akseli Hemminki; Patricia Dahia; Pertti Sistonen; Z Zheng; S Caron; Nathalie J van Orsouw; Walter F Bodmer; SE Cottrell; Malcolm G Dunlop; Diana Eccles; Shirley V Hodgson; Heikki Järvinen; Ilmo Kellokumpu; D Markie; Kay Neale; Robin Phillips; P Rozen; Sapna Syngal; Jan Vijg; Ian P M Tomlinson; Lauri A Aaltonen; Charis Eng
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Cancer research 1997;57(22):5017-21.
1997: Markku T Aarnio; Reijo Salovaara; Lauri A Aaltonen; Jukka-Pekka Mecklin; Heikki J Järvinen
Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome.
International journal of cancer. Journal international du cancer 1997;74(5):551-5.
1997: Ying Wu; Minna Nyström-Lahti; Jan Osinga; M W G Looman; Päivi Peltomäki; Lauri A Aaltonen; Albert de La Chapelle; Robert M W Hofstra; Charles H C M Buys
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
Genes, chromosomes & cancer 1997;18(4):269-78.
1997: M Wolf; Lauri A Aaltonen; J Szymanska; Maija Tarkkanen; Inkeri Elomaa; Sakari Knuutila
Microsatellite markers as tools for characterization of DNA amplifications evaluated by comparative genomic hybridization.
Cancer genetics and cytogenetics 1997;93(1):33-8.
1997: M Wolf; Lauri A Aaltonen; J Szymanska; Maija Tarkkanen; Carl Blomqvist; Jeanne-Marie Berner; Ola Myklebost; Sakari Knuutila
Complexity of 12q13-22 amplicon in liposarcoma: microsatellite repeat analysis.
Genes, chromosomes & cancer 1997;18(1):66-70.
1997: Akseli Hemminki; Ian Tomlinson; D Markie; Heikki Järvinen; Pertti Sistonen; AM Björkqvist; Sakari Knuutila; Reijo Salovaara; Walter Bodmer; D Shibata; Albert de La Chapelle; Lauri A Aaltonen
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.
Nature genetics 1997;15(1):87-90.
1996: Maija Tarkkanen; Lauri A Aaltonen; Tom Böhling; Aarne Kivioja; Erkki O Karaharju; Inkeri Elomaa; Sakari Knuutila
No evidence of microsatellite instability in bone tumours.
British journal of cancer 1996;74(3):453-5.
1996: F Canzian; Reijo Salovaara; Akseli Hemminki; Paula Kristo; R B Chadwick; Lauri A Aaltonen; Albert de La Chapelle
Semiautomated assessment of loss of heterozygosity and replication error in tumors.
Cancer research 1996;56(14):3331-7.
1996: Z H Li; Lauri A Aaltonen; Q Shu; S Srivastava; W E Grizzle; Darryl Shibata
Effects of mutation and growth rates on patterns of microsatellite instability.
The American journal of pathology 1996;148(6):1757-61.
1996: Darryl Shibata; William Navidi; Reijo Salovaara; Z H Li; Lauri A Aaltonen
Somatic microsatellite mutations as molecular tumor clocks.
Nature medicine 1996;2(6):676-81.
1996: Z H Li; Reijo Salovaara; Lauri A Aaltonen; Darryl Shibata
Telomerase activity is commonly detected in hereditary nonpolyposis colorectal cancers.
The American journal of pathology 1996;148(4):1075-9.
1996: Risto Sankila; Lauri A Aaltonen; Heikki J Järvinen; Jukka-Pekka Mecklin
Better survival rates in patients with MLH1-associated hereditary colorectal cancer.
Gastroenterology 1996;110(3):682-7.
1995: Markku T Aarnio; Jukka-Pekka Mecklin; Lauri A Aaltonen; Minna Nyström-Lahti; Heikki J Järvinen
Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome.
International journal of cancer. Journal international du cancer 1995;64(6):430-3.
1995: Minna Nyström-Lahti; Paula Kristo; N C Nicolaides; S Y Chang; Lauri A Aaltonen; Anu-Liisa Moisio; Heikki J Järvinen; Jukka-Pekka Mecklin; Kenneth W Kinzler; Bert Vogelstein
Founding mutations and Alu-mediated recombination in hereditary colon cancer.
Nature medicine 1995;1(11):1203-6.
1994: Akseli Hemminki; Päivi Peltomäki; Jukka-Pekka Mecklin; Heikki Järvinen; Reijo Salovaara; Minna Nyström-Lahti; Albert de La Chapelle; Lauri A Aaltonen
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.
Nature genetics 1994;8(4):405-10.
1994: Minna Nyström-Lahti; R Parsons; Pertti Sistonen; Liisa Pylkkänen; Lauri A Aaltonen; F S Leach; Stanley R Hamilton; P Watson; E Bronson; R Fusaro
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage.
American journal of human genetics 1994;55(4):659-65.
1994: Lauri A Aaltonen; Päivi Peltomäki
Genes involved in hereditary nonpolyposis colorectal carcinoma.
Anticancer research 1994;14(4B):1657-60.
1994: Minna Nyström-Lahti; Pertti Sistonen; Jukka-Pekka Mecklin; Liisa Pylkkänen; Lauri A Aaltonen; Heikki Järvinen; J Weissenbach; Albert de La Chapelle; Päivi Peltomäki
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(13):6054-8.
1994: Lauri A Aaltonen; Päivi Peltomäki; Jukka-Pekka Mecklin; Heikki Järvinen; J R Jass; J S Green; H T Lynch; P Watson; G Tallqvist; M Juhola
Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.
Cancer research 1994;54(7):1645-8.
1994: Lauri A Aaltonen; Risto Sankila; Jukka-Pekka Mecklin; Heikki Järvinen; Eero Pukkala; Päivi Peltomäki; Albert de La Chapelle
A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden.
Cancer detection and prevention 1994;18(1):57-63.
1993: F S Leach; N C Nicolaides; Nickolas Papadopoulos; B Liu; Jin Jen; R Parsons; Päivi Peltomäki; Pertti Sistonen; Lauri A Aaltonen; Minna Nyström-Lahti
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
Cell 1993;75(6):1215-25.
1993: Päivi Peltomäki; Ragnhild A Lothe; Lauri A Aaltonen; Liisa Pylkkänen; Minna Nyström-Lahti; Raquel Seruca; L David; R Holm; David Ryberg; Aage Haugen
Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome.
Cancer research 1993;53(24):5853-5.
1993: Ragnhild A Lothe; Päivi Peltomäki; Gunn Iren Meling; Lauri A Aaltonen; Minna Nyström-Lahti; Liisa Pylkkänen; Ketil Heimdal; Tone Ikdal Andersen; P Møller; Torleiv O Rognum
Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history.
Cancer research 1993;53(24):5849-52.
1993: Lauri A Aaltonen; Päivi Peltomäki; F S Leach; Pertti Sistonen; Liisa Pylkkänen; Jukka-Pekka Mecklin; Heikki Järvinen; Steven M Powell; Jin Jen; Stanley R Hamilton
Clues to the pathogenesis of familial colorectal cancer.
Science (New York, N.Y.) 1993;260(5109):812-6.
1993: Päivi Peltomäki; Lauri A Aaltonen; Pertti Sistonen; Liisa Pylkkänen; Jukka-Pekka Mecklin; Heikki Järvinen; J S Green; J R Jass; J L Weber; F S Leach
Genetic mapping of a locus predisposing to human colorectal cancer.
Science (New York, N.Y.) 1993;260(5109):810-2.
1992: Päivi Peltomäki; Pertti Sistonen; Jukka-Pekka Mecklin; Liisa Pylkkänen; Lauri A Aaltonen; S Nordling; Juha Kere; Heikki Järvinen; Stanley R Hamilton; G Petersen
Evidence that the MCC-APC gene region in 5q21 is not the site for susceptibility to hereditary nonpolyposis colorectal carcinoma.
Cancer research 1992;52(16):4530-3.