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Publications

Tavtigian SV, Hashibe M, Thomas A (2011) Tests of association for rare variants: Case control mutation screening. Nat Rev Genet 12(3). PMID: 21283087

Le Calvez-Kelm F, Lesueur F, Damiola F, Vallée M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Breast Cancer Family Registry, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV (2011) Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: Results from a breast CFR case-control mutation screening study. Breast Cancer Res 13(1): R6. PMID: 21244692

Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV (2011) Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs. Hum Mutat [Epub ahead of print]. PMID: 21990165

Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI (2010) Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: Evidence for a founder effect. Hum Mutat 31:143-150. PMID: 19877175

Velkova A, Carvalho MA, Johnson JO, Tavtigian SV, Monteiro AN (2010) Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair. Cell Cycle 9:1421-1433. PMID: 20305393

Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV (2009) Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat 30(6):884-890. PMID: 19347964

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang S-C, Forey N, Feuchtinger C, Gioia L, Hal J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC, Australian Cancer Study, BCFR, kConFab, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Gen 85:427-446. PMCID: 2756555. PMID: 19781682

Plon SE, Eccles DM, Easton DE, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FBL, Hoogerbrugge N, Spurdle AB, Tavtigian SV, for the IARC Unclassified Genetic Variants Working Group (2008) Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29(11):1282-1291. PMID: 18951446

Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A (2008) Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat 29(11):1342-1354. PMID: 18951461

Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB (2008) In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat 29(11): 1327-1336. PMID: 18951440

Cancer Types and Topics

Tavtigian Lab


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