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Page 1
A deletion mutation in GDF9 in sisters with spontaneous DZ twins.
Montgomery GW, Zhao ZZ, Marsh AJ, Mayne R, Treloar SA, James M, Martin NG, Boomsma DI, Duffy DL. Montgomery GW, et al. Among authors: marsh aj. Twin Res. 2004 Dec;7(6):548-55. doi: 10.1375/1369052042663823. Twin Res. 2004. PMID: 15607004
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. 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
Sequence variants of DLC1 in colorectal and ovarian tumours.
Wilson PJ, McGlinn E, Marsh A, Evans T, Arnold J, Wright K, Biden K, Young J, Wainwright B, Wicking C, Chenevix-Trench G. Wilson PJ, et al. Hum Mutat. 2000;15(2):156-65. doi: 10.1002/(SICI)1098-1004(200002)15:2<156::AID-HUMU4>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10649492
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. 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. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001
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. 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.
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. 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
54 results