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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. Tavtigian SV, et al. Among authors: thomas a. Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781682 Free PMC article.
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. Le Calvez-Kelm F, et al. Among authors: thomas a. Breast Cancer Res. 2011 Jan 18;13(1):R6. doi: 10.1186/bcr2810. Breast Cancer Res. 2011. PMID: 21244692 Free PMC article.
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. Thompson BA, et al. Among authors: thomas a. Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 22949387 Free PMC article.
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.
Teerlink CC, Leongamornlert D, Dadaev T, Thomas A, Farnham J, Stephenson RA, Riska S, McDonnell SK, Schaid DJ, Catalona WJ, Zheng SL, Cooney KA, Ray AM, Zuhlke KA, Lange EM, Giles GG, Southey MC, Fitzgerald LM, Rinckleb A, Luedeke M, Maier C, Stanford JL, Ostrander EA, Kaikkonen EM, Sipeky C, Tammela T, Schleutker J, Wiley KE, Isaacs SD, Walsh PC, Isaacs WB, Xu J, Cancel-Tassin G, Cussenot O, Mandal D, Laurie C, Laurie C; PRACTICAL consortium; International Consortium for Prostate Cancer Genetics; Thibodeau SN, Eeles RA, Kote-Jarai Z, Cannon-Albright L. Teerlink CC, et al. Among authors: thomas a. Hum Genet. 2016 Aug;135(8):923-38. doi: 10.1007/s00439-016-1690-6. Epub 2016 Jun 4. Hum Genet. 2016. PMID: 27262462 Free PMC article.
Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.
Waller RG, Darlington TM, Wei X, Madsen MJ, Thomas A, Curtin K, Coon H, Rajamanickam V, Musinsky J, Jayabalan D, Atanackovic D, Rajkumar SV, Kumar S, Slager S, Middha M, Galia P, Demangel D, Salama M, Joseph V, McKay J, Offit K, Klein RJ, Lipkin SM, Dumontet C, Vachon CM, Camp NJ. Waller RG, et al. Among authors: thomas a. PLoS Genet. 2018 Feb 1;14(2):e1007111. doi: 10.1371/journal.pgen.1007111. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29389935 Free PMC article.
9,621 results