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Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators. Lovelock PK, et al. Among authors: spurdle ab. J Med Genet. 2006 Jan;43(1):74-83. doi: 10.1136/jmg.2005.033258. Epub 2005 May 27. J Med Genet. 2006. PMID: 15923272 Free PMC article.
A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers.
Wang WW, Spurdle AB, Kolachana P, Bove B, Modan B, Ebbers SM, Suthers G, Tucker MA, Kaufman DJ, Doody MM, Tarone RE, Daly M, Levavi H, Pierce H, Chetrit A, Yechezkel GH, Chenevix-Trench G, Offit K, Godwin AK, Struewing JP. Wang WW, et al. Among authors: spurdle ab. Cancer Epidemiol Biomarkers Prev. 2001 Sep;10(9):955-60. Cancer Epidemiol Biomarkers Prev. 2001. PMID: 11535547
The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia.
Marsh A, Spurdle AB, Turner BC, Fereday S, Thorne H, Pupo GM, Mann GJ, Hopper JL, Sambrook JF, Chenevix-Trench G; Australian Breast Cancer Family Study; Kathleen Cuningham Foundation for Research into Familial Breast Cancer. Marsh A, et al. Among authors: spurdle ab. Breast Cancer Res. 2001;3(5):346-9. doi: 10.1186/bcr319. Epub 2001 Jul 17. Breast Cancer Res. 2001. PMID: 11597326 Free PMC article.
461 results