ReviewMolecular genetics & genomic medicine2018
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
Review in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis.Health science reports · 2026Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals.Familial cancer · 2021Article
- A RareCancer research · 2020Article
- A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results.Cancer medicine · 2020Article
- Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.Molecular genetics & genomic medicine · 2018Review
- Contralateral breast cancer in patients carrying mutations in the BRCA1∕2 gene.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHistorically, 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.
methodsWe 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.
resultsreview 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, CHEK2 (OMIM 604373), APC (OMIM 611731), MSH2 (OMIM 609309), MSH6 (OMIM 600678), and GREM1 (OMIM 603054) genes for individuals of AJ ancestry.
conclusionWe 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.
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