caa a22 4500 445330643 CHVBK 20180317142736.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10689-010-9395-9 doi (NATIONALLICENCE)springer-10.1007/s10689-010-9395-9 Two BRCA1/2 founder mutations in Jews of Sephardic origin [Elektronische Daten] [Michal Sagi, Avital Eilat, Liat Ben Avi, Yael Goldberg, Dani Bercovich, Tamar Hamburger, Tamar Peretz, Israela Lerer] 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. Springer Science+Business Media B.V., 2010 BRCA1/2 nationallicence DHPLC nationallicence Founder mutations nationallicence Sephardic Jews nationallicence Sagi Michal Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut Eilat Avital Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut Ben Avi Liat Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut Goldberg Yael Sharett institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel aut Bercovich Dani The Human Molecular Genetics, Migal - Galilee Bio-Technology Center, Kiryat-Shmona, Israel and Tel Hai Academic College, Tel Hai, Israel aut Hamburger Tamar Sharett institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel aut Peretz Tamar Sharett institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel aut Lerer Israela Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut Familial Cancer Springer Netherlands 10/1(2011-03-01), 59-63 1389-9600 10:1<59 2011 10 10689 https://doi.org/10.1007/s10689-010-9395-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9395-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sagi Michal Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut NATIONALLICENCE 700 1- Eilat Avital Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut NATIONALLICENCE 700 1- Ben Avi Liat Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut NATIONALLICENCE 700 1- Goldberg Yael Sharett institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel aut NATIONALLICENCE 700 1- Bercovich Dani The Human Molecular Genetics, Migal - Galilee Bio-Technology Center, Kiryat-Shmona, Israel and Tel Hai Academic College, Tel Hai, Israel aut NATIONALLICENCE 700 1- Hamburger Tamar Sharett institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel aut NATIONALLICENCE 700 1- Peretz Tamar Sharett institute of Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel aut NATIONALLICENCE 700 1- Lerer Israela Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120, Jerusalem, Israel aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/1(2011-03-01), 59-63 1389-9600 10:1<59 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer