Open AccessHereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations
Author(s) -
Cox Devin M.,
Nelson Katherine L.,
Clytone Meera,
Collins Debra L.
Publication year - 2018
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.460
Subject(s) - founder effect , genetics , msh2 , cancer , msh6 , population , lynch syndrome , genetic testing , medicine , mutation , biology , gene , germline mutation , haplotype , colorectal cancer , dna mismatch repair , allele , environmental health
Abstract Background Historically, three founder mutations in the BRCA 1/2 ( OMIM 113705; OMIM 600185) genes have been the focus of cancer risks within the Ashkenazi Jewish ( AJ ) population. However, there are several additional mutations associated with increased susceptibility to cancer in individuals of AJ ancestry. Methods We report three patients who exemplify the need to keep these additional founder mutations in mind when pursuing hereditary cancer genetic testing of individuals in this population. All gene sequences in this paper were aligned to reference sequences based on human genome build GRC h37/ UCSC hg19. Results review of the literature discusses that the combined risk is 12.36%–20.83% forhaving 1 of the 10 hereditary cancer AJ founder mutations in the BRCA 1, BRCA 2, CHEK 2 ( OMIM 604373) , APC ( OMIM 611731) , MSH 2 ( OMIM 609309) , MSH 6 ( OMIM 600678) , and GREM 1 ( OMIM 603054) genes for individuals of AJ ancestry. Conclusion We recommend testing for all 10 of these AJ founder cancer susceptibility mutations for individuals within this population as standard screening in order to ensure appropriate cancer risk management and cascade testing.