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Page 1
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J; Breast Cancer Family Registry; Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV. Young EL, et al. J Med Genet. 2016 Jun;53(6):366-76. doi: 10.1136/jmedgenet-2015-103398. Epub 2016 Jan 19. J Med Genet. 2016. PMID: 26787654 Free PMC article.
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.
Nguyen-Dumont T, Mahmoodi M, Hammet F, Tran T, Tsimiklis H; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Giles GG, Hopper JL; Australian Breast Cancer Family Registry; Southey MC, Park DJ. Nguyen-Dumont T, et al. Anal Biochem. 2015 Feb 1;470:48-51. doi: 10.1016/j.ab.2014.10.010. Epub 2014 Oct 30. Anal Biochem. 2015. PMID: 25447460 Free PMC article.
Rare mutations in XRCC2 increase the risk of breast cancer.
Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC. Park DJ, et al. Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464251 Free PMC article.
14 results