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Sean Tavtigian

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Bernard J Pope; Melissa C Southey; Kayoko Tao; Sean V Tavtigian; Russell Bell; David E Goldgar; Fleur Hammet; Andrew Lonie; Tú Nguyen-Dumont; Fabrice Odefrey; Daniel J Park
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.
Bryony A Thompson; Maxime P Vallee; Erin L Young; Chloe Tessereau; Alun Thomas; Ivan A Adzhubey; Russell Bell; Ken Boucher; Bingjian Feng; Thierry Frebourg; David E Goldgar; Marc S Greenblatt; Johanna C Herkert; Robert M W Hofstra; Biao Li; Sean D Mooney; Predrag Radivojac; Rolf H Sijmons; Amanda B Spurdle; Shamil Sunyaev; Sean V Tavtigian
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Bryony A Thompson; Rhiannon Walters; Joanne P Young; Sean V Tavtigian; Stephen N Thibodeau; Sven Arnold; Daniel D Buchanan; Mark Clendenning; Steven Gallinger; David E Goldgar; Robert W Haile; John L Hopper; Mark A Jenkins; Loic Lemarchand; Noralane M Lindor; Walsh Michael D; Polly A Newcomb; Michael T Parsons; Carol Paterson; Amanda B Spurdle
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

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2013: Bernard J Pope; Melissa C Southey; Kayoko Tao; Sean V Tavtigian; Russell Bell; David E Goldgar; Fleur Hammet; Andrew Lonie; Tú Nguyen-Dumont; Fabrice Odefrey; Daniel J Park
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.
BMC bioinformatics 2013;14():65.
2013: Bryony A Thompson; Maxime P Vallee; Erin L Young; Chloe Tessereau; Alun Thomas; Ivan A Adzhubey; Russell Bell; Ken Boucher; Bingjian Feng; Thierry Frebourg; David E Goldgar; Marc S Greenblatt; Johanna C Herkert; Robert M W Hofstra; Biao Li; Sean D Mooney; Predrag Radivojac; Rolf H Sijmons; Amanda B Spurdle; Shamil Sunyaev; Sean V Tavtigian
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Human mutation 2013;34(1):255-65.
2013: Bryony A Thompson; Rhiannon Walters; Joanne P Young; Sean V Tavtigian; Stephen N Thibodeau; Sven Arnold; Daniel D Buchanan; Mark Clendenning; Steven Gallinger; David E Goldgar; Robert W Haile; John L Hopper; Mark A Jenkins; Loic Lemarchand; Noralane M Lindor; Walsh Michael D; Polly A Newcomb; Michael T Parsons; Carol Paterson; Amanda B Spurdle
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Human mutation 2013;34(1):200-9.
2012: Daniel J Park; M Pertesi; B J Pope; Sean V Tavtigian; M B Terry; H Tsimiklis; Catherine VOEGELE; Irene L Andrulis; Alicia Barroso; J Benitez; S Buys; M Daly; Peter Devilee; Graham G Giles; David E Goldgar; Fleur Hammet; F M Hilbers; N Hoogerbrugge; John L Hopper; E M John; F Le Calvez-Kelm; Fabienne LESUEUR; A Lonie; S L Neuhausen; T Nguyen-Dumont; Fabrice Odefrey; Ana Osorio; Melissa C Southey
Rare mutations in XRCC2 increase the risk of breast cancer.
American journal of human genetics 2012;90(4):734-9.
2012: Marc Tischkowitz; Maxime P Vallée; Jonine L Bernstein; Leslie Bernstein; Marinela Capanu; Patrick Concannon; William D Foulkes; Lili Li; Xiaolin Liang; Nelly Sabbaghian; Sean V Tavtigian; Colin B Begg
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Human mutation 2012;33(4):674-80.
2012: Florence Le Calvez-Kelm; Irene L Andrulis; Graham Byrnes; Francesca Damiola; Geoffroy Durand; Nathalie Forey; John L Hopper; Esther M John; Javier Oliver; Breast Cancer Family Registry; Nivonirina Robinot; Melissa C Southey; Sean V Tavtigian; Maxime P Vallée; Catherine VOEGELE; Fabienne LESUEUR
RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.
PloS one 2012;7(12):e52374.
2012: Amanda B Spurdle; Dominique Stoppa-Lyonnet; Sean V Tavtigian; Barbara Wappenschmidt; Fergus J. Couch; Andrew Devereau; David E Goldgar; Sue Healey; Frans B L Hogervorst; Alvaro N A Monteiro; Katherine L Nathanson; Paolo Radice
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Human mutation 2012;33(1):2-7.
2011: Sean V Tavtigian
Comparison of programs for in silico assessment of missense substitutions.
Human mutation 2011;32(6):v.
2011: Edwin S Iversen; Fergus J Couch; David E Goldgar; Sean V Tavtigian; Alvaro N A Monteiro
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2011;20(6):1078-88.
2011: Phillip J Whiley; Lucia Guidugli; Logan C Walker; Sue Healey; Bryony A Thompson; Sunil R Lakhani; Leonard M Da Silva; Sean V Tavtigian; David E Goldgar; Melissa A Brown; Fergus J. Couch; Amanda B Spurdle
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Human mutation 2011;32(6):678-87.
2011: M R J Kohonen-Corish; Finlay Macrae; Maurizio Genuardi; Stefan Aretz; Bharati Bapat; Inge T Bernstein; John Burn; Richard G H Cotton; Johan T den Dunnen; Thierry Frebourg; Marc S Greenblatt; Robert Hofstra; Elke Holinski-Feder; Ilkka Lappalainen; Annika Lindblom; Donna Maglott; Pål Møller; Hans Morreau; Gabriela Möslein; Rolf Sijmons; Amanda B Spurdle; Sean V Tavtigian; Carli M J Tops; Thomas K Weber; Niels De Wind; Michael O Woods
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
Human mutation 2011;32(4):491-4.
2011: Hector Hernandez-Vargas; Marie-Pierre Lambert; Florence Le Calvez-Kelm; Chantal Matar; Sandrine McKay-Chopin; Maria Ouzounova; Alain Puisieux; Sean V Tavtigian; Zdenko Herceg
Methylome analysis reveals Jak-STAT pathway deregulation in putative breast cancer stem cells.
Epigenetics : official journal of the DNA Methylation Society 2011;6(4):428-39.
2011: Sean V Tavtigian; Mia Hashibe; Alun Thomas
Tests of association for rare variants: case control mutation screening.
Nature reviews. Genetics 2011;12(3):224.
2011: Bing-Jian Feng; Melissa C Southey; Sean V Tavtigian; David E Goldgar
Design considerations for massively parallel sequencing studies of complex human disease.
PloS one 2011;6(8):e23221.
2011: Tú Nguyen-Dumont; Olga Sinilnikova; Melissa C Southey; Sean V Tavtigian; Nathalie Forey; Lars Petter Jordheim; Florence Le Calvez-Kelm; Sandrine McKay-Chopin; Jocelyne Michelon; Fabienne LESUEUR
Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.
BMC medical genomics 2011;4():39.
2011: Florence Le Calvez-Kelm; Fabienne LESUEUR; Sandrine McKay-Chopin; Tù Nguyen-Dumont; Nivonirina Robinot; Melissa C Southey; Alun Thomas; Maxime Vallée; Catherine VOEGELE; Irene L Andrulis; Davit Babikyan; Graham B Byrnes; Francesca Damiola; Geoffroy Durand; Nathalie Forey; John L Hopper; Esther M John; Sean V Tavtigian
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.
Breast cancer research : BCR 2011;13(1):R6.
2010: M R J Kohonen-Corish; Jumana Y Al-Aama; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Inge Bernstein; Christophe Béroud; John Burn; Fiona Cunningham; Garry R Cutting; Johan T den Dunnen; Marc S Greenblatt; Jim Kaput; Michael Katz; Annika Lindblom; Finlay Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Raj Ramesar; Sue Richards; Daniela Seminara; María-Jesús Sobrido; Sean V Tavtigian; Graham Taylor; Mauno Vihinen; Ingrid Winship; Richard G H Cotton
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Human mutation 2010;31(12):1374-81.
2010: Logan C Walker; Phillip J Whiley; Fergus J. Couch; Daniel J Farrugia; Sue Healey; Diana M Eccles; Feng Lin; Samantha A Butler; Sheila A Goff; Bryony A Thompson; Sunil R Lakhani; Leonard M Da Silva; Sean V Tavtigian; David E Goldgar; Melissa A Brown; Amanda B Spurdle
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Human mutation 2010;31(6):E1484-505.
2010: Aneliya Velkova; Marcelo A Carvalho; Joseph O Johnson; Sean V Tavtigian; Alvaro N A Monteiro
Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair.
Cell cycle (Georgetown, Tex.) 2010;9(7):1421-33.
2010: Sonia Garritano; Federica Gemignani; Edenir Inez Palmero; Magali Olivier; G Martel-Planche; Florence Le Calvez-Kelm; Laurence Brugiéres; Fernando Regla Vargas; Ricardo Renzo Brentani; Patricia Ashton-Prolla; Stefano Landi; Sean V Tavtigian; Pierre Hainaut; Maria Isabel W Achatz
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
Human mutation 2010;31(2):143-50.
2010: Hector Hernandez-Vargas; Marie-Pierre Lambert; Florence Le Calvez-Kelm; Géraldine Gouysse; Sandrine McKay-Chopin; Sean V Tavtigian; Jean-Yves Scoazec; Zdenko Herceg
Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors.
PloS one 2010;5(3):e9749.
2009: Sean V Tavtigian; Peter J Oefner; Davit Babikyan; Anne Hartmann; Sue Healey; Florence Le Calvez-Kelm; Fabienne LESUEUR; Graham B Byrnes; Shu-Chun Chuang; Nathalie Forey; Corinna Feuchtinger; Lydie Gioia; Janet Hall; Mia Hashibe; Barbara Herte; Sandrine McKay-Chopin; Alun Thomas; Maxime P Vallée; Catherine VOEGELE; Penelope M Webb; David C Whiteman; Suleeporn Sangrajrang; John L Hopper; Melissa C Southey; Irene L Andrulis; Esther M John; Georgia Chenevix-Trench
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
American journal of human genetics 2009;85(4):427-46.
2009: Tú Nguyen-Dumont; Florence Le Calvez-Kelm; Nathalie Forey; Sandrine McKay-Chopin; Sonia Garritano; Lydie Gioia-Patricola; Deepika de Silva; Ron Weigel; Suleeporn Sangrajrang; Fabienne LESUEUR; Sean V Tavtigian
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.
Human mutation 2009;30(6):884-90.
2009: Sven Arnold; Daniel D Buchanan; Melissa Barker; Lesley Jaskowski; Michael D Walsh; Genevieve Birney; Michael O Woods; John L Hopper; Mark A Jenkins; Melissa A Brown; Sean V Tavtigian; David E Goldgar; Joanne P Young; Amanda B Spurdle
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
Human mutation 2009;30(5):757-70.
2009: Sonia Garritano; Federica Gemignani; Catherine VOEGELE; Tú Nguyen-Dumont; Florence Le Calvez-Kelm; Deepika de Silva; Fabienne LESUEUR; Stefano Landi; Sean V Tavtigian
Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus.
BMC genetics 2009;10():5.
2008: Richard G H Cotton; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Samuel F Berkovic; Anthony J Brookes; John Burn; Garry R Cutting; Johan T den Dunnen; Paul Flicek; Nelson Freimer; Marc S Greenblatt; Heather J Howard; Michael Katz; Finlay A Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Rajkumar S Ramesar; Carolyn S (Sue) Richards; Daniela Seminara; Timothy D Smith; María-Jesús Sobrido; Jan Helge Solbakk; Rudolph E Tanzi; Sean V Tavtigian; Graham Taylor; Joji Utsunomiya; Michael Watson
GENETICS. The Human Variome Project.
Science (New York, N.Y.) 2008;322(5903):861-2.
2008: Sean V Tavtigian; Graham B Byrnes; David E Goldgar; Alun Thomas
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.
Human mutation 2008;29(11):1342-54.
2008: Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Human mutation 2008;29(11):1282-91.
2008: Sean V Tavtigian; Marc S Greenblatt; Fabienne LESUEUR; Graham B Byrnes
In silico analysis of missense substitutions using sequence-alignment based methods.
Human mutation 2008;29(11):1327-36.
2008: Sean V Tavtigian; Marc S Greenblatt; David E Goldgar; Paolo Boffetta
Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
Human mutation 2008;29(11):1261-4.
2008: Marc D Tischkowitz; Ahmet Yilmaz; Long Q Chen; Danielle M Karyadi; David Novak; Tomas Kirchhoff; Nancy Hamel; Sean V Tavtigian; Suzanne Kolb; Tarek A Bismar; Raquel Aloyz; Peter S Nelson; Lee Hood; Steven A Narod; Kirsten A White; Elaine A Ostrander; William B Isaacs; Kenneth Offit; Kathleen Cooney; Janet L Stanford; William D Foulkes
Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.
Cancer letters 2008;270(1):173-80.
2008: Marc Tischkowitz; Nancy Hamel; Marcelo A Carvalho; Gabriel Birrane; Aditi Soni; erik van beers; Simon A Joosse; Nora Wong; David Novak; Louise A Quenneville; Scott Grist; petra nederlof; David E Goldgar; Sean V Tavtigian; Alvaro Monteiro; John A A Ladias; William D Foulkes
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
European journal of human genetics : EJHG 2008;16(7):820-32.
2008: Daniel J Farrugia; Mukesh K Agarwal; Vernon S Pankratz; Amie M Deffenbaugh; Dmitry Pruss; Cynthia Frye; Linda Wadum; Kiley Johnson; Jennifer Mentlick; Sean V Tavtigian; David E Goldgar; Fergus J. Couch
Functional assays for classification of BRCA2 variants of uncertain significance.
Cancer research 2008;68(9):3523-31.
2008: Fleur Hammet; Jessica George; Andrea A Tesoriero; Mark A Jenkins; Christopher Schroen; Letitia Smith; Anke Grabosch-Meehan; Gillian Dite; Margaret R E McCredie; Graham G Giles; Sean V Tavtigian; John L Hopper; Melissa C Southey
Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer?
Breast cancer research and treatment 2008;109(1):177-9.
2008: Amanda B Spurdle; Sunil R Lakhani; Sue Healey; Suzanne Parry; Leonard M Da Silva; Ross Brinkworth; John L Hopper; Melissa A Brown; Davit Babikyan; Georgia Chenevix-Trench; Sean V Tavtigian; David E Goldgar
Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008;26(10):1657-63.
2007: Douglas F Easton; Amie M Deffenbaugh; Dmitry Pruss; Cynthia Frye; Richard J Wenstrup; Kristina Allen-Brady; Sean V Tavtigian; Alvaro Monteiro; Edwin S Iversen; Fergus J. Couch; David E Goldgar
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
American journal of human genetics 2007;81(5):873-83.
2007: Catherine VOEGELE; Sean V Tavtigian; Deepika de Silva; S Cuber; Alun Thomas; F Le Calvez-Kelm
A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening.
Bioinformatics (Oxford, England) 2007;23(18):2504-6.
2007: Audrey Petitjean; Ewy Mathe; Shunsuke Kato; Chikashi Ishioka; Sean V Tavtigian; Pierre Hainaut; Magali Olivier
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.
Human mutation 2007;28(6):622-9.
2007: Nichola Johnson; Olivia Fletcher; Claire Palles; Matthew Rudd; Emily Webb; Gabrielle Sellick; Isabel dos Santos Silva; Valerie McCormack; Lorna Gibson; Agnes Fraser; Angela Leonard; Clare Gilham; Sean V Tavtigian; Alan Ashworth; richard Houlston; Julian Peto
Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility.
Human molecular genetics 2007;16(9):1051-7.
2007: Rachel Karchin; Alvaro Monteiro; Sean V Tavtigian; Marcelo A Carvalho; Andrej Sali
Functional impact of missense variants in BRCA1 predicted by supervised learning.
PLoS computational biology 2007;3(2):e26.
2007: Paul K Lovelock; Amanda B Spurdle; Myth T S Mok; Daniel J Farrugia; Sunil R Lakhani; Sue Healey; Stephen Arnold; Daniel Buchanan; Fergus J. Couch; Beric R Henderson; David E Goldgar; Sean V Tavtigian; Georgia Chenevix-Trench; Melissa A Brown
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Breast cancer research : BCR 2007;9(6):R82.
2007: Elisabeth Cardis; Janet Hall; Sean V Tavtigian
Identification of women with an increased risk of developing radiation-induced breast cancer.
Breast cancer research : BCR 2007;9(3):106.
2006: Nic Waddell; Jyoti Jonnalagadda; Anna Marsh; Scott Grist; Mark Jenkins; Karen Hobson; Malcolm Taylor; Geoffrey J Lindeman; Sean V Tavtigian; Graeme Suthers; David E Goldgar; Peter J Oefner; Darrin Taylor; Sean M Grimmond; Kum Kum Khanna; Georgia Chenevix-Trench
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
Genes, chromosomes & cancer 2006;45(12):1169-81.
2006: Nayanta Sodha; Tine S Mantoni; Sean V Tavtigian; Rosalind Eeles; Michelle D Garrett
Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.
Cancer research 2006;66(18):8966-70.
2006: Sean V Tavtigian; Amie M Deffenbaugh; L Yin; Thaddeus Judkins; Thomas Scholl; Paul B Samollow; Deepika de Silva; A Zharkikh; Alun Thomas
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
Journal of medical genetics 2006;43(4):295-305.
2006: Georgia Chenevix-Trench; Sue Healey; Sunil Lakhani; Paul Waring; Margaret Cummings; Ross Brinkworth; Amie M Deffenbaugh; Lynn Anne Burbidge; Dmitry Pruss; Thaddeus Judkins; Thomas Scholl; Anna Bekessy; Anna Marsh; Paul K Lovelock; Ming Wong; Andrea Tesoriero; Helene Renard; Melissa C Southey; John L Hopper; Koulis Yannoukakos; Melissa Brown; Douglas Easton; Sean V Tavtigian; David E Goldgar; Amanda B Spurdle
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Cancer research 2006;66(4):2019-27.
2006: Sean V Tavtigian; Marco A Pierotti; Anne-Lise Børresen-Dale
International Agency for Research on Cancer workshop on 'Expression array analyses in breast cancer taxonomy'.
Breast cancer research : BCR 2006;8(6):303.
2006: Francine Durocher; Yvan Labrie; Penny Soucy; Olga M Sinilnikova; Damian Labuda; Paul Bessette; Jocelyne Chiquette; Rachel Laframboise; Jean Lépine; Bernard Lespérance; Geneviève Ouellette; Roxane Pichette; Marie Plante; Sean V Tavtigian; Jacques Simard
Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
BMC cancer 2006;6():230.
2006: Sean V Tavtigian; Paul B Samollow; Deepika de Silva; Alun Thomas
An analysis of unclassified missense substitutions in human BRCA1.
Familial cancer 2006;5(1):77-88.
2006: Denise Avard; Peter Bridge; Lucie M Bucci; Jocelyne Chiquette; Michel Dorval; Francine Durocher; Douglas Easton; Béatrice Godard; David E Goldgar; Bartha Maria Knoppers; Rachel Laframboise; Bernard Lespérance; Marie Plante; Sean V Tavtigian; Hélène Vézina; Brenda J Wilson; Jacques Simard
Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges.
Familial cancer 2006;5(1):3-13.
2006: Ewy Mathe; Magali Olivier; Shunsuke Kato; Chikashi Ishioka; Pierre Hainaut; Sean V Tavtigian
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.
Nucleic acids research 2006;34(5):1317-25.
2006: Paul K Lovelock; Sue Healey; W Au; Eleanor Y M Sum; Andrea Tesoriero; Ee Ming Wong; Shannon R Hinson; R Brinkworth; A Bekessy; O Diez; Louise Izatt; Ellen Solomon; M Jenkins; Helene Renard; J Hopper; P Waring; Sean V Tavtigian; David E Goldgar; Geoffrey J Lindeman; Jane E Visvader; Fergus J. Couch; B R Henderson; Melissa C Southey; Georgia Chenevix-Trench; Amanda B Spurdle; Melissa A Brown
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
Journal of medical genetics 2006;43(1):74-83.
2005: Rayjean J Hung; Olga L van der Hel; Sean V Tavtigian; Paul Brennan; Paolo Boffetta; Mia Hashibe
Perspectives on the molecular epidemiology of aerodigestive tract cancers.
Mutation research 2005;592(1-2):102-18.
2005: Umaima Al-Alem; Cuiling Li; Nathalie Forey; Francis Relouzat; Marie-Claude Fondanèche; Sean V Tavtigian; Zhao-Qi Wang; Sylvain Latour; Luo Yin
Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap.
Blood 2005;106(6):2069-75.
2005: Nicola J Camp; Jeff Swensen; Benjamin D Horne; James M Farnham; Alun Thomas; Lisa A Cannon-Albright; Sean V Tavtigian
Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer.
Genetic epidemiology 2005;28(3):232-43.
2005: Catherine M Phelan; Virna Dapic; B Tice; Reyna Favis; Elaine Kwan; Francis Barany; Siranoush Manoukian; Paolo Radice; Rob B van der Luijt; B P M van Nesselrooij; G Chenevix-Trench; Trinidad Caldes; Miguel de la Hoya; S Lindquist; Sean V Tavtigian; David E Goldgar; A Borg; Steven A Narod; Alvaro Monteiro
Classification of BRCA1 missense variants of unknown clinical significance.
Journal of medical genetics 2005;42(2):138-46.
2005: James M Farnham; Nicola J Camp; Jeff Swensen; Sean V Tavtigian; Lisa A Cannon Albright
Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees.
Human genetics 2005;116(3):179-85.
2005: Kangjian Wu; Shannon R Hinson; Akihiro Ohashi; Daniel Farrugia; Patricia Wendt; Sean V Tavtigian; Amie M Deffenbaugh; David E Goldgar; Fergus J. Couch
Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
Cancer research 2005;65(2):417-26.
2005: Christopher Pettigrew; Nicola Wayte; Paul K Lovelock; Sean V Tavtigian; Georgia Chenevix-Trench; Amanda B Spurdle; Melissa A Brown
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.
Breast cancer research : BCR 2005;7(6):R929-39.
2005: Yuan Chen; Audrey Beck; Christina Davenport; Yuan Chen; Donna Shattuck; Sean V Tavtigian
Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z.
BMC molecular biology 2005;6():12.
2004: David E Goldgar; Douglas F Easton; Amie M Deffenbaugh; Alvaro Monteiro; Sean V Tavtigian; Fergus J. Couch
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
American journal of human genetics 2004;75(4):535-44.
2004: Martine Dumont; David Frank; Anne-Marie Moisan; Martine Tranchant; Penny Soucy; Rock Breton; Fernand Labrie; Sean V Tavtigian; Jacques Simard
Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2.
Biochimica et biophysica acta 2004;1679(3):230-47.
2004: Victor Abkevich; A Zharkikh; Amie M Deffenbaugh; D Frank; Yuan Chen; Donna Shattuck; Mark H Skolnick; Alexander Gutin; Sean V Tavtigian
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Journal of medical genetics 2004;41(7):492-507.
2003: J Simard; M Dumont; Damian Labuda; Daniel Sinnett; C Meloche; Mohamed El-Alfy; Louise Berger; E Lees; Fernand Labrie; Sean V Tavtigian
Prostate cancer susceptibility genes: lessons learned and challenges posed.
Endocrine-related cancer 2003;10(2):225-59.
2003: Wouter Korver; Claudia Guevara; Yang Chen; Saskia Neuteboom; Rob Bookstein; Sean V Tavtigian; Emma Lees
The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex.
International journal of cancer. Journal international du cancer 2003;104(3):283-8.
2002: Nicola J Camp; Sean V Tavtigian
Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer.
American journal of human genetics 2002;71(6):1475-8.
2002: Thomas S Frank; Amie M Deffenbaugh; Julia E Reid; Mark Hulick; Brian E Ward; Beth Lingenfelter; Kathi L Gumpper; Thomas Scholl; Sean V Tavtigian; Dmitry Pruss; Gregory C Critchfield
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2002;20(6):1480-90.
2002: Hiromichi Fujiwara; Mitsura Emi; Hisaki Nagai; Taiji Nishimura; Noboru Konishi; Yoshinobu Kubota; Tomohiko Ichikawa; Satoru Takahashi; Taro Shuin; Tomonori Habuchi; Osamu Ogawa; Katsuki Inoue; Mark H Skolnick; Jeff Swensen; Nicola J Camp; Sean V Tavtigian
Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.
Journal of human genetics 2002;47(12):641-8.
2001: Charis Eng; Lawrence C Brody; Teresa M U Wagner; Peter Devilee; Jan Vijg; Csilla I Szabo; Sean V Tavtigian; Katherine L Nathanson; Elaine A Ostrander; Thomas S Frank
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.
Journal of medical genetics 2001;38(12):824-33.
2001: David Teng; Yuan Chen; L Lian; PC Ha; Sean V Tavtigian; AK Wong
Mutation analyses of 268 candidate genes in human tumor cell lines.
Genomics 2001;74(3):352-64.
2000: AK Wong; F Shanahan; Yuan Chen; L Lian; PC Ha; K Hendricks; S Ghaffari; D Iliev; B Penn; A M Woodland; R Smith; G Salada; A Carillo; K Laity; J Gupte; B Swedlund; Sean V Tavtigian; David Teng; E Lees
BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines.
Cancer research 2000;60(21):6171-7.
2000: N B Adey; L Huang; PA Ormonde; ML Baumgard; R Pero; D V Byreddy; Sean V Tavtigian; PL Bartel
Threonine phosphorylation of the MMAC1/PTEN PDZ binding domain both inhibits and stimulates PDZ binding.
Cancer research 2000;60(1):35-7.
1999: Susan L Neuhausen; James M Farnham; E Kort; Sean V Tavtigian; Mark H Skolnick; Lisa A Cannon-Albright
Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees.
Human molecular genetics 1999;8(13):2437-42.
1999: AK Wong; Yuan Chen; L Lian; PC Ha; K Petersen; K Laity; A Carillo; M Emerson; K Heichman; J Gupte; Sean V Tavtigian; David Teng
Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene.
Genomics 1999;59(2):248-51.
1999: AM Morimoto; AE Berson; GH Fujii; David Teng; Sean V Tavtigian; Robert Bookstein; PA Steck; JB Bolen
Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase.
Oncogene 1999;18(6):1261-6.
1998: AK Wong; PA Ormonde; R Pero; Yuan Chen; L Lian; G Salada; S Berry; Q Lawrence; P Dayananth; PC Ha; Sean V Tavtigian; David Teng; PL Bartel
Characterization of a carboxy-terminal BRCA1 interacting protein.
Oncogene 1998;17(18):2279-85.
1998: I W Cheney; Duane E Johnson; Mei Ting Vaillancourt; Jenny Avanzini; AM Morimoto; G William Demers; Ken Wills; Paul Shabram; JB Bolen; Sean V Tavtigian; Robert Bookstein
Suppression of tumorigenicity of glioblastoma cells by adenovirus-mediated MMAC1/PTEN gene transfer.
Cancer research 1998;58(11):2331-4.
1998: Daniel W Fults; Carolyn A Pedone; G E Thompson; CM Uchiyama; Kathi L Gumpper; D Iliev; V L Vinson; Sean V Tavtigian; W L Perry
Microsatellite deletion mapping on chromosome 10q and mutation analysis of MMAC1, FAS, and MXI1 in human glioblastoma multiforme.
International journal of oncology 1998;12(4):905-10.
1997: AK Wong; R Pero; PA Ormonde; Sean V Tavtigian; PL Bartel
RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2.
The Journal of biological chemistry 1997;272(51):31941-4.
1997: HC Tsou; David Teng; XL Ping; V Brancolini; T Davis; R Hu; XX Xie; AC Gruener; CA Schrager; Angela M Christiano; Charis Eng; PA Steck; Jurg Ott; Sean V Tavtigian; M Peacocke
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
American journal of human genetics 1997;61(5):1036-43.
1997: D Shattuck-Eidens; Arnold Oliphant; M McClure; celeste mcbride; J Gupte; Todd Rubano; Dmitry Pruss; Sean V Tavtigian; David Teng; N Adey; M Staebell; Kathi L Gumpper; R Lundstrom; Mark Hulick; M Kelly; J Holmen; B Lingenfelter; S Manley; F Fujimura; M Luce; Brian Ward; Lisa A Cannon-Albright; L Steele; Kenneth Offit; A Thomas
BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.
JAMA : the journal of the American Medical Association 1997;278(15):1242-50.
1997: David Teng; W L Perry; J K Hogan; ML Baumgard; R Bell; S Berry; T Davis; D Frank; Cynthia Frye; T Hattier; R Hu; Srikanth Jammulapati; T Janecki; A Leavitt; J T Mitchell; R Pero; David Sexton; M Schroeder; P H Su; B Swedlund; John M Kyriakis; Joseph Avruch; PL Bartel; AK Wong; Sean V Tavtigian
Human mitogen-activated protein kinase kinase 4 as a candidate tumor suppressor.
Cancer research 1997;57(19):4177-82.
1997: D P Hejlik; LV Kottickal; Hong Liang; J Fairman; T Davis; T Janecki; David Sexton; W Perry; Sean V Tavtigian; David Teng; Lalitha Nagarajan
Localization of SMAD5 and its evaluation as a candidate myeloid tumor suppressor.
Cancer research 1997;57(17):3779-83.
1997: PA Steck; MA Pershouse; Samar A Jasser; W K Alfred Yung; Hui Lin; AH Ligon; Lauren Langford; ML Baumgard; T Hattier; T Davis; Cynthia Frye; R Hu; B Swedlund; David Teng; Sean V Tavtigian
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.
Nature genetics 1997;15(4):356-62.
1997: Mark H Skolnick; T Frank; D Shattuck-Eidens; Sean V Tavtigian
Genetic susceptibility to breast and ovarian cancer.
Pathologie-biologie 1997;45(3):245-9.
1996: David Teng; R Bogden; J Mitchell; M Baumgard; R Bell; S Berry; T Davis; P C Ha; R Kehrer; S Jammulapati; Q Chen; Kenneth Offit; Mark H Skolnick; Sean V Tavtigian; Suresh C Jhanwar; B Swedlund; AK Wong; Alexander Kamb
Low incidence of BRCA2 mutations in breast carcinoma and other cancers.
Nature genetics 1996;13(2):241-4.
1996: Fergus J. Couch; L M Farid; M L DeShano; Sean V Tavtigian; Kathleen A Calzone; L Campeau; Y Peng; B Bogden; Q Chen; Susan L Neuhausen; D Shattuck-Eidens; A K Godwin; M Daly; D M Radford; S Sedlacek; Johanna M Rommens; Jacques Simard; Judy E Garber; Sofia D Merajver; Barbara L Weber
BRCA2 germline mutations in male breast cancer cases and breast cancer families.
Nature genetics 1996;13(1):123-5.
1996: Steinunn Thorlacius; G Olafsdottir; Laufey Tryggvadottir; Susan L Neuhausen; Jon G Jonasson; Sean V Tavtigian; Hrafn Tulinius; Helga M Ogmundsdottir; Jorunn E Eyfjörd
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes.
Nature genetics 1996;13(1):117-9.
1996: Sean V Tavtigian; Jacques Simard; Johanna M Rommens; Fergus J. Couch; D Shattuck-Eidens; Susan L Neuhausen; Sofia D Merajver; Steinunn Thorlacius; Kenneth Offit; D Stoppa-Lyonnet; Carole Belanger; R Bell; S Berry; R Bogden; Q Chen; T Davis; M Dumont; Cynthia Frye; T Hattier; S Jammulapati; T Janecki; P Jiang; R Kehrer; J F Leblanc; J T Mitchell; J McArthur-Morrison; K Nguyen; Y Peng; C Samson; M Schroeder; S C Snyder; L Steele; M Stringfellow; C Stroup; B Swedlund; J Swense; David Teng; A Thomas; T Tran; M Tranchant; J Weaver-Feldhaus; AK Wong; H Shizuya; J E Eyfjord; Lisa A Cannon-Albright; M Tranchant; Fernand Labrie; Mark H Skolnick; B Weber; Alexander Kamb; David E Goldgar
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Nature genetics 1996;12(3):333-7.
1995: T Hattier; R Bell; Daniel Shaffer; S Stone; R S Phelps; Sean V Tavtigian; Mark H Skolnick; D Shattuck-Eidens; Alexander Kamb
Monitoring the efficacy of hybrid selection during positional cloning: the search for BRCA1.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(12):873-9.
1995: S Stone; P Dayananth; P Jiang; J M Weaver-Feldhaus; Sean V Tavtigian; Lisa A Cannon-Albright; Alexander Kamb
Genomic structure, expression and mutational analysis of the P15 (MTS2) gene.
Oncogene 1995;11(5):987-91.
1995: S Stone; P Jiang; P Dayananth; Sean V Tavtigian; H Katcher; D Parry; G Peters; Alexander Kamb
Complex structure and regulation of the P16 (MTS1) locus.
Cancer research 1995;55(14):2988-94.
1994: Susan L Neuhausen; Jeff Swensen; Y Miki; Q Liu; Sean V Tavtigian; D Shattuck-Eidens; Alexander Kamb; M R Hobbs; J Gingrich; H Shizuya
A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1.
Human molecular genetics 1994;3(11):1919-26.
1994: P Andrew Futreal; Q Liu; D Shattuck-Eidens; C Cochran; K Harshman; Sean V Tavtigian; L Michelle Bennett; A Haugen-Strano; Jeff Swensen; Y Miki
BRCA1 mutations in primary breast and ovarian carcinomas.
Science (New York, N.Y.) 1994;266(5182):120-2.
1994: Daniel Shaffer; Jeff Swensen; D Shattuck-Eidens; P Andrew Futreal; K Harshman; Sean V Tavtigian; Q Liu; C Cochran; L Michelle Bennett; W Ding
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
Science (New York, N.Y.) 1994;266(5182):66-71.
1994: Alexander Kamb; P Andrew Futreal; J Rosenthal; C Cochran; K D Harshman; Q Liu; R S Phelps; Sean V Tavtigian; T Tran; C Hussey
Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1.
Genomics 1994;23(1):163-7.
1994: Alexander Kamb; Nelleke A Gruis; J Weaver-Feldhaus; Q Liu; K Harshman; Sean V Tavtigian; E Stockert; R S Day; Bruce E Johnson; Mark H Skolnick
A cell cycle regulator potentially involved in genesis of many tumor types.
Science (New York, N.Y.) 1994;264(5157):436-40.