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Page 1
Dominant negative ATM mutations in breast cancer families.
Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dörk T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK. Chenevix-Trench G, et al. Among authors: spurdle ab. J Natl Cancer Inst. 2002 Feb 6;94(3):205-15. doi: 10.1093/jnci/94.3.205. J Natl Cancer Inst. 2002. PMID: 11830610
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
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
Mann GJ, Thorne H, Balleine RL, Butow PN, Clarke CL, Edkins E, Evans GM, Fereday S, Haan E, Gattas M, Giles GG, Goldblatt J, Hopper JL, Kirk J, Leary JA, Lindeman G, Niedermayr E, Phillips KA, Picken S, Pupo GM, Saunders C, Scott CL, Spurdle AB, Suthers G, Tucker K, Chenevix-Trench G; Kathleen Cuningham Consortium for Research in Familial Breast Cancer. Mann GJ, et al. Among authors: spurdle ab. Breast Cancer Res. 2006;8(1):R12. doi: 10.1186/bcr1377. Epub 2006 Feb 13. Breast Cancer Res. 2006. PMID: 16507150 Free PMC article.
Mutation analysis of five candidate genes in familial breast cancer.
Marsh A, Healey S, Lewis A, Spurdle AB, Kedda MA, Khanna KK; kConFab; Mann GJ, Pupo GM, Lakhani SR, Chenevix-Trench G. Marsh A, et al. Among authors: spurdle ab. Breast Cancer Res Treat. 2007 Nov;105(3):377-89. doi: 10.1007/s10549-006-9461-z. Epub 2006 Dec 23. Breast Cancer Res Treat. 2007. PMID: 17187232
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D; kConFab Investigators; Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Lovelock PK, et al. Among authors: spurdle ab. Breast Cancer Res. 2007;9(6):R82. doi: 10.1186/bcr1826. Breast Cancer Res. 2007. PMID: 18036263 Free PMC article.
Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE; kConFab Investigators. Spurdle AB, et al. J Clin Oncol. 2008 Apr 1;26(10):1657-63. doi: 10.1200/JCO.2007.13.2779. J Clin Oncol. 2008. PMID: 18375895
The use of predictive or prognostic genetic biomarkers in endometrial and other hormone-related cancers: justification for extensive candidate gene single nucleotide polymorphism studies of the matrix metalloproteinase family and their inhibitors.
O'Mara TA, Clements JA, Spurdle AB. O'Mara TA, et al. Among authors: spurdle ab. Cancer Epidemiol Biomarkers Prev. 2009 Sep;18(9):2352-65. doi: 10.1158/1055-9965.EPI-08-1184. Epub 2009 Sep 1. Cancer Epidemiol Biomarkers Prev. 2009. PMID: 19723913 Review.
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators; Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB. Walker LC, et al. Among authors: spurdle ab. Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267. Hum Mutat. 2010. PMID: 20513136 Free PMC article.
478 results