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FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian SV. Cannon-Albright LA, et al. Among authors: kohlmann wk. Mol Genet Genomic Med. 2020 Dec;8(12):e1532. doi: 10.1002/mgg3.1532. Epub 2020 Oct 29. Mol Genet Genomic Med. 2020. PMID: 33118316 Free PMC article.
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. Among authors: kohlmann wk. 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.
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV. Young EL, et al. Among authors: kohlmann wk. BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5. BMC Cancer. 2018. PMID: 29945567 Free PMC article.
145 results