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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.
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Spurdle AB, Antoniou AC, Duffy DL, Pandeya N, Kelemen L, Chen X, Peock S, Cook MR, Smith PL, Purdie DM, Newman B, Dite GS, Apicella C, Southey MC, Giles GG, Hopper JL, Chenevix-Trench G, Easton DF; EMBRACE Study Collaborators. Spurdle AB, et al. Breast Cancer Res. 2005;7(2):R176-83. doi: 10.1186/bcr971. Epub 2004 Dec 16. Breast Cancer Res. 2005. PMID: 15743497 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
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.
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.
Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB, Lindeman GJ, Visvader JE, Brown MA, Chenevix-Trench G; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Lewis AG, et al. Among authors: spurdle ab. Breast Cancer Res. 2005;7(6):R1005-16. doi: 10.1186/bcr1336. Epub 2005 Oct 21. Breast Cancer Res. 2005. PMID: 16280053 Free PMC article.
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators. Chenevix-Trench G, et al. Among authors: spurdle ab. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001
Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.
Lovelock PK, Wong EM, Sprung CN, Marsh A, Hobson K, French JD, Southey M, Sculley T, Pandeya N, Brown MA, Chenevix-Trench G, Spurdle AB, McKay MJ; kConFab Investigators. Lovelock PK, et al. Among authors: spurdle ab. Breast Cancer Res Treat. 2007 Sep;104(3):257-66. doi: 10.1007/s10549-006-9415-5. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063265
476 results