Which variant is associated with BRCA2 in the Ashkenazi Jewish population?

The variant associated with BRCA2 in the Ashkenazi Jewish population is 6174delT. This specific deletion mutation is a well-characterized pathogenic variant that contributes significantly to the increased risk of breast and ovarian cancers within this population. The Ashkenazi Jewish community has a higher prevalence of certain genetic mutations, including 6174delT in BRCA2, which allows for more targeted screening and preventive strategies.

This variant specifically leads to a frameshift in the BRCA2 gene, resulting in a premature stop codon and effectively truncating the protein. As a result, there is a loss of the normal function of the BRCA2 protein, which plays a crucial role in DNA repair mechanisms. The identification of this variant in individuals can help guide clinical management, including risk assessment and consideration for preventive measures such as enhanced surveillance or prophylactic surgery.

Other variants listed, while they may have associations with different populations or genetic conditions, do not specifically relate to BRCA2 in the context of the Ashkenazi Jewish population in the same well-established manner as 6174delT.