UW Study Examines Prevalence of Non-Founder BRCA1, BRCA2, Other Mutations in Breast Cancer

NEW YORK (GenomeWeb) – A portion of women of Jewish ancestry who develop breast cancer have disease-predisposing variants that are not the BRCA1 or BRCA2 founder alleles, according to a new study. This has led the University of Washington’s Mary-Claire King and her colleagues to suggest that all women undergo more comprehensive genetic screening.

Three BRCA1 and BRCA2 gene variants can greatly increase a woman’s risk of developing breast cancer and these variants are more common among women of Ashkenazi Jewish ancestry. However, these three mutations only account for about 10 percent of invasive breast cancers among Ashkenazi Jewish women, the researchers noted.

In a new study, King and her colleagues examined 23 known and candidate breast cancer risk genes in a cohort of more than 1,000 women of Ashkenazi Jewish ancestry who had developed breast cancer. As they reported in JAMA Oncology today, the researchers found that of the 142 women with a disease-predisposing variant, 74 percent harbored a BRCA1 or BRCA2 founder mutation, five percent had a different BRCA1 or BRCA2 mutation, and 22 percent had a variant in another gene altogether. This suggested to King and her colleagues that Ashkenazi Jewish women might benefit from broader genetic

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