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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: oefner pj. 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.
Two ATM variants and breast cancer risk.
Thompson D, Antoniou AC, Jenkins M, Marsh A, Chen X, Wayne T, Tesoriero A, Milne R, Spurdle A, Thorstenson Y, Southey M, Giles GG, Khanna KK, Sambrook J, Oefner P, Goldgar D, Hopper JL, Easton D, Chenevix-Trench G; KConFab Investigators. Thompson D, et al. Hum Mutat. 2005 Jun;25(6):594-5. doi: 10.1002/humu.9344. Hum Mutat. 2005. PMID: 15880680
Rare variants in the ATM gene and risk of breast cancer.
Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM; BCFR; kConFab; Khanna KK, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G. Goldgar DE, et al. Among authors: oefner pj. Breast Cancer Res. 2011 Jul 25;13(4):R73. doi: 10.1186/bcr2919. Breast Cancer Res. 2011. PMID: 21787400 Free PMC article.
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ; kConFab Investigators; Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G. Waddell N, et al. Among authors: oefner pj. Genes Chromosomes Cancer. 2006 Dec;45(12):1169-81. doi: 10.1002/gcc.20381. Genes Chromosomes Cancer. 2006. PMID: 17001622
Contributions of ATM mutations to familial breast and ovarian cancer.
Thorstenson YR, Roxas A, Kroiss R, Jenkins MA, Yu KM, Bachrich T, Muhr D, Wayne TL, Chu G, Davis RW, Wagner TM, Oefner PJ. Thorstenson YR, et al. Among authors: oefner pj. Cancer Res. 2003 Jun 15;63(12):3325-33. Cancer Res. 2003. PMID: 12810666
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.
Wagner TM, Hirtenlehner K, Shen P, Moeslinger R, Muhr D, Fleischmann E, Concin H, Doeller W, Haid A, Lang AH, Mayer P, Petru E, Ropp E, Langbauer G, Kubista E, Scheiner O, Underhill P, Mountain J, Stierer M, Zielinski C, Oefner P. Wagner TM, et al. Hum Mol Genet. 1999 Mar;8(3):413-23. doi: 10.1093/hmg/8.3.413. Hum Mol Genet. 1999. PMID: 9971877
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.
Shiri-Sverdlov R, Oefner P, Green L, Baruch RG, Wagner T, Kruglikova A, Haitchick S, Hofstra RM, Papa MZ, Mulder I, Rizel S, Bar Sade RB, Dagan E, Abdeen Z, Goldman B, Friedman E. Shiri-Sverdlov R, et al. Hum Mutat. 2000 Dec;16(6):491-501. doi: 10.1002/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J. Hum Mutat. 2000. PMID: 11102978
309 results