View the full Tavtigian SV bibliography on the NIH PubMed Database
Selected Publications
Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework.
Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biececker LG. Genetics in Medicine (2018) Epub ahead of print
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
Vallee MP, Di Sera TL, Nix DA, Paquette AM, Parsons MT, Bell R, Hoffman A, Hogervorst FB, Goldgar DE, Spurdle AB, Tavtigian SV. Hum Mutat (2016) 37:627-39
Multigene testing of moderate-risk genes: be mindful of the missense
Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J, Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV. J Med Genet (2016) 53:366-76
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV. Breast Cancer Res (2014) 16:R58
Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers.
Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F*, Tavtigian SV*, Southey MC*, Goldgar DE*.
Cancer Discov (2014) 4:804-15
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV. Hum Mutat (2013) 34:255-65
Rare mutations in XRCC2 increase the risk of breast cancer.
Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC. Am J Hum Genet (2012) 90:734-9.
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV. Hum Mutat (2012) 33:22-8.
Tests of association for rare variants: case control mutation screening.
Tavtigian SV, Hashibe M, Thomas A.
Nat Rev Genet (2011) 12:224
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.
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. Breast Cancer Res (2011) 13:R6
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G.
Am J Hum Genet. 2009 Oct;85(4):427-46.
Older Impactful Papers
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.
Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A.
Hum Mutat (2008) 29:1342-54
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group.
Hum Mutat (2008) 29:1282-91
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ; Breast Cancer Information Core (BIC) Steering Committee.
Am J Hum Genet (2004) 75:535-44
Identification of a candidate tumour suppressor gene, MMAC1†, at chromosome 10q23.3 that is mutated in multiple advanced cancers.
Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV. †MMAC1 is PTEN
Nat Genet (1997) 15:356-62
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. Nat Genet (1996) 12:333-7