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426 results

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Page 1
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
Fortuno C, Feng BJ, Carroll C, Innella G, Kohlmann W, Lázaro C, Brunet J, Feliubadaló L, Iglesias S, Menéndez M, Teulé A, Ballinger ML, Thomas DM, Campbell A, Field M, Harris M, Kirk J, Pachter N, Poplawski N, Susman R, Tucker K, Wallis M, Williams R, Cops E, Goldgar D; kConFab Investigators; James PA, Spurdle AB. Fortuno C, et al. Among authors: spurdle ab. JCO Precis Oncol. 2024 Feb;8:e2300453. doi: 10.1200/PO.23.00453. JCO Precis Oncol. 2024. PMID: 38412388
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
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 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.
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
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.
The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women.
Dowty JG, Lose F, Jenkins MA, Chang JH, Chen X, Beesley J, Dite GS, Southey MC, Byrnes GB, Tesoriero A, Giles GG, Hopper JL, Spurdle AB; kConFab Investigators; Australian Breast Cancer Family Study (ABCFS). Dowty JG, et al. Among authors: spurdle ab. Breast Cancer Res Treat. 2008 Nov;112(1):35-9. doi: 10.1007/s10549-007-9832-0. Epub 2007 Dec 4. Breast Cancer Res Treat. 2008. PMID: 18058226
426 results