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A common coding variant in CASP8 is associated with breast cancer risk.
Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schürmann P, Bogdanova N, Dörk T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, Van't Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedrén S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, Easton DF; Breast Cancer Association Consortium. Cox A, et al. Nat Genet. 2007 Mar;39(3):352-8. doi: 10.1038/ng1981. Epub 2007 Feb 11. Nat Genet. 2007. PMID: 17293864
Predictors of long-term cancer-related distress among female BRCA1 and BRCA2 mutation carriers without a cancer diagnosis: an international analysis.
Metcalfe KA, Price MA, Mansfield C, Hallett DC, Lindeman GJ, Fairchild A, Posner J, Friedman S, Snyder C; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Lynch HT, Evans DG, Narod SA, Liede A. Metcalfe KA, et al. Br J Cancer. 2020 Jul;123(2):268-274. doi: 10.1038/s41416-020-0861-3. Epub 2020 May 12. Br J Cancer. 2020. PMID: 32393849 Free PMC article.
The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Spurdle AB, Antoniou AC, Kelemen L, Holland H, Peock S, Cook MR, Smith PL, Greene MH, Simard J, Plourde M, Southey MC, Godwin AK, Beck J, Miron A, Daly MB, Santella RM, Hopper JL, John EM, Andrulis IL, Durocher F, Struewing JP, Easton DF, Chenevix-Trench G; Australian Breast Cancer Family Study; Australian Jewish Breast Cancer Study; Breast Cancer Family Registry; Interdisciplinary Health Research International Team on Breast Cancer Susceptibility; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer; Epidemiological Study of Familial Breast Cancer Study Collaborators. Spurdle AB, et al. Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):76-9. doi: 10.1158/1055-9965.EPI-05-0709. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 16434590