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Article

Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals.

Genetic testing and molecular biomarkers - 1 Aug 2009

Kaufman Bella, Laitman Yael, Gronwald Jacek, Lubinski Jan, Friedman Eitan

Abstract excerpt

Recurring mutations in the BRCA1 gene are noted in some populations and represent either founder mutations or a mutational hot spot. The C61G*BRCA1 (c.181T>G) missense mutation is a pathogenic one commonly reported in Polish individuals. A Jewish non-Ashkenazi family (of Italian ancestry) was found to carry this mutation, and the present study aimed at evaluating whether this mutation represents a founder...

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Source

Identifiers

PMID: 19594371
DOI: 10.1089/gtmb.2009.0001

Genes

BRCA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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