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Article

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

Molecular genetics & genomic medicine - 1 Nov 2018

Cox Devin M, Nelson Katherine L, Clytone Meera, Collins Debra L

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30152102
DOI: 10.1002/mgg3.460
PMCID: PMC6305650

Genes

BRCA1
APC
BRCA2
CHEK2
GREM1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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