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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR, Rahman N. Renwick A, et al. Among authors: rahman n. Nat Genet. 2006 Aug;38(8):873-5. doi: 10.1038/ng1837. Epub 2006 Jul 9. Nat Genet. 2006. PMID: 16832357
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR, Rahman N. Seal S, et al. Among authors: rahman n. Nat Genet. 2006 Nov;38(11):1239-41. doi: 10.1038/ng1902. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033622
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR. Rahman N, et al. Nat Genet. 2007 Feb;39(2):165-7. doi: 10.1038/ng1959. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200668 Free PMC article.
Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Vaz F, et al. Among authors: rahman n. Nat Genet. 2010 May;42(5):406-9. doi: 10.1038/ng.570. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400963
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N. Yost S, et al. Among authors: rahman n. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553959 Free PMC article.
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N; Breast Cancer Susceptibility Collaboration. Seal S, et al. Among authors: rahman n. Cancer Res. 2003 Dec 15;63(24):8596-9. Cancer Res. 2003. PMID: 14695169
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration; Rahman N. Douglas J, et al. Among authors: rahman n. Nat Genet. 2007 Aug;39(8):963-5. doi: 10.1038/ng2083. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632510
1,943 results