Study Shows Predisposed Cancer Factors in Ashkenazi Jewish Women

Upon finding additional breast cancer mutations in Ashkenazi Jewish breast cancer patients, a new study suggests that this population of women can benefit from genetic testing for all known breast cancer genes.

There are 3 known founder-mutations in BRCA1 and BRCA2 (BRAC1/2) that severely increase the risk of breast and ovarian cancer in Ashkenazi Jewish women. In the new study, led by Mary-Claire King, PhD, of the University of Washington (Seattle, WA, USA), researchers looked for other BC-predisposing mutations in this population. They performed multiplex genomic sequencing, for all known and candidate breast cancer genes, on DNA from 1,007 women of Ashkenazi Jewish ancestry with breast cancer. Of these 1,007 patients, 903 had none of the 3 BRCA1/2 founder mutations. Of those 903 patients, seven (0.8%) carried a different mutation in BRCA1 or BRCA2 and 31 (3.4%) carried a damaging mutation in another breast cancer gene.


The study notes two limitations, including that they only sequenced genes that were known or suspected to harbor mutations that increase the risk of breast cancer.

The study, by Walsh T et al, was published July 20, 2017, by the journal JAMA Oncology.

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