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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Tavtigian SV, et al. Among authors: hopper jl. Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781682 Free PMC article.
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: hopper jl. 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
Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations.
Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, van Orsouw NJ, Venter DJ, Vijg J, Whittemore AS; Cooperative Family Registry for Breast Cancer studies. Andrulis IL, et al. Among authors: hopper jl. Hum Mutat. 2002 Jul;20(1):65-73. doi: 10.1002/humu.10097. Hum Mutat. 2002. PMID: 12112659
Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.
Scott CL, Jenkins MA, Southey MC, Davis TA, Leary JA, Easton DF, Phillips KA, Hopper JL. Scott CL, et al. Among authors: hopper jl. Hum Genet. 2003 May;112(5-6):542-51. doi: 10.1007/s00439-003-0908-6. Epub 2003 Feb 25. Hum Genet. 2003. PMID: 12601471
1,207 results