Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.

ABSTRACT:

Background

Historically, three founder mutations in the BRCA1/2 (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 GRCh37/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 BRCA1, BRCA2,

SUBMITTER: Cox DM 

PROVIDER: S-EPMC6305650 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature