Two BRCA1/2 founder mutations in Jews of Sephardic origin

  title={Two BRCA1/2 founder mutations in Jews of Sephardic origin},
  author={Michal Sagi and Avital Eilat and Liat Ben Avi and Yael Goldberg and Dani Bercovich and Tamar Hamburger and Tamar Peretz and Israela Lerer},
  journal={Familial Cancer},
Founder mutations in BRCA1/2 genes have been detected in several Jewish communities in Israel, including in Ashkenazi Jews and Jews who immigrated to Israel from Iraq, Yemen, Iran and Afghanistan. We analyzed DNA samples of patients of Sephardic origin (descendents of Jews from the Iberian Peninsula) with breast cancer (BC) and/or ovarian cancer (OC) and additional family history of these cancers. In this study we identified 2 mutations: p.A1708E in BRCA1 and c.67 + 1G > A (IVS2 + 1G > A) in… CONTINUE READING
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