Article

Familial Cancer

, Volume 10, Issue 1, pp 59-63

Two BRCA1/2 founder mutations in Jews of Sephardic origin

  • Michal SagiAffiliated withDepartment of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center Email author 
  • , Avital EilatAffiliated withDepartment of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center
  • , Liat Ben AviAffiliated withDepartment of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center
  • , Yael GoldbergAffiliated withSharett institute of Oncology, Hadassah Hebrew University Medical Center
  • , Dani BercovichAffiliated withThe Human Molecular Genetics, Migal - Galilee Bio-Technology Center, Kiryat-Shmona, Israel and Tel Hai Academic College
  • , Tamar HamburgerAffiliated withSharett institute of Oncology, Hadassah Hebrew University Medical Center
  • , Tamar PeretzAffiliated withSharett institute of Oncology, Hadassah Hebrew University Medical Center
  • , Israela LererAffiliated withDepartment of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center

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Abstract

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 BRCA2, each in 3 unrelated patients. The frequency of the two mutations was 26–31% among Sephardic high risk families and about 3% among the full cohort of 177 patients of this origin who were tested in our center. Based on haplotype analysis we concluded that these mutations are most probably founder mutations in Sephardic Jews. We recommend testing the two mutations in women of Sephardic origin who apply for BRCA testing because of personal and/or family history of BC and/or OC. Furthermore, we suggest adding them to the 5 mutations included in “The Jewish panel” of BRCA1/2 mutations that are being tested in Israel.

Keywords

BRCA1/2 DHPLC Founder mutations Sephardic Jews