The yield of targeted genotyping for the recurring mutations in <Emphasis Type="Italic">BRCA1</Emphasis>/<Emphasis Type="Italic">2</Emphasis> in Israel |
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Authors: | Rinat Bernstein-Molho Yael Laitman Hagit Schayek Orit Reish Shira Lotan Sara Haim Jamal Zidan Eitan Friedman |
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Institution: | 1.Breast Cancer Center, Oncology Institute,Chaim Sheba Medical Center,Ramat Gan,Israel;2.Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics,Chaim Sheba Medical Center,Ramat Gan,Israel;3.Genetic Institute,Assaf Harofeh Medical Center,Zerifin,Israel;4.Sackler School of Medicine,Tel-Aviv University,Tel Aviv,Israel;5.The Oncology Division,Ziv Medical Center,Safed,Israel;6.Faculty of Medicine in the Galilee,Bar-Ilan University,Safed,Israel |
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Abstract: | BackgroundHereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. A few recurring mutations in these genes were reported in ethnically diverse Jewish populations. Since 2013, most oncogenetic laboratories in Israel adopted a two-step approach for BRCA1/2 genotyping, where the first step is genotyping for 14 seemingly recurring mutations—first-pass genotyping. The aim of this study was to assess the yield of this targeted BRCA sequencing.MethodsClinical and genotyping data of all individuals who underwent oncogenetic counseling and first-pass BRCA genotyping at the Oncogenetic Service Sheba and Assaf Harofeh Medical Centers from 1 February 2013 to 30 June 2017 were reviewed. All study participants were unrelated to each other.ResultsOverall, 5152 oncogenetic tests were reviewed in the present study, of which 4452 had no a priori known familial mutation. The majority of participants (68.6%) were genotyped because of personal history of cancer; 20.6% were tested because of family history of cancer, and details for the remaining 10.7% were missing. Overall, 256/4452 (5.8%) carriers were detected, 141 BRCA1 and 115 BRCA2 mutation carriers. In 54% of cancer-free carriers, no clinically suspicious family history of cancer was ascertained.ConclusionsThe currently used scheme of first-pass genotyping in Israel seems to have a high yield of mutation detection even in the absence of a significant family history of cancer. The challenge is to optimize the currently used targeted panel of common mutations and adjust it to the accumulating new data in the Israeli population. |
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