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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 Nov;29(11):1342-54. doi: 10.1002/humu.20896.


An analysis of unclassified missense substitutions in human BRCA1.

Tavtigian SV, Samollow PB, de Silva D, Thomas A.

Fam Cancer. 2006;5(1):77-88.


Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A.

J Med Genet. 2006 Apr;43(4):295-305.


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 Jan 18;13(1):R6. doi: 10.1186/bcr2810.


In silico analysis of missense substitutions using sequence-alignment based methods.

Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1327-36. doi: 10.1002/humu.20892.


Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.

Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV.

Nucleic Acids Res. 2006 Mar 6;34(5):1317-25.


Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.


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 Jan;33(1):22-8. doi: 10.1002/humu.21629.


Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A; German Consortium for Hereditary Breast and Ovarian Cancer..

Int J Cancer. 2002 Feb 1;97(4):472-80.


Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.


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.

Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA..

Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628.


Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Krajc M, Teugels E, Zgajnar J, Goelen G, Besic N, Novakovic S, Hocevar M, De Grève J.

BMC Med Genet. 2008 Sep 10;9:83. doi: 10.1186/1471-2350-9-83.


BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.


Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators..

Cancer Res. 2006 Feb 15;66(4):2019-27.


Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV, Jønson L, Steffensen AY, Andersen MK, Kjaergaard S, Gerdes AM, Ejlertsen B, Nielsen FC.

Fam Cancer. 2011 Jun;10(2):207-12. doi: 10.1007/s10689-011-9422-5.


Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC.

JAMA. 2006 Mar 22;295(12):1379-88.


Pitfalls and caveats in BRCA sequencing.

Bellosillo B, Tusquets I.

Ultrastruct Pathol. 2006 May-Jun;30(3):229-35. Review.


Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.

Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.

BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.


Germline RAP80 mutations and susceptibility to breast cancer.

Akbari MR, Ghadirian P, Robidoux A, Foumani M, Sun Y, Royer R, Zandvakili I, Lynch H, Narod SA.

Breast Cancer Res Treat. 2009 Jan;113(2):377-81. doi: 10.1007/s10549-008-9938-z.


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 Oct;75(4):535-44.

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