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.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Sagi M,Eilat A,Ben Avi L,Goldberg Y,Bercovich D,Hamburger T,Peretz T,Lerer Idoi
10.1007/s10689-010-9395-9subject
Has Abstractpub_date
2011-03-01 00:00:00pages
59-63issue
1eissn
1389-9600issn
1573-7292journal_volume
10pub_type
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