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A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.

Familial cancer - 1 Jul 2022

Reznick Levi Gili, Larom Gal, Ofen Glassner Vered, Ekhilevitch Nina, Sharon Swartzman Nitzan, Paperna Tamar, Baris-Feldman Hagit, Weiss Karin

Abstract excerpt

Germline pathogenic variants (PVs) in BRCA1/BRCA2 are well-established risk factors for breast cancer (BC) and/or ovarian cancer (OC). Founder PVs have been described in BRCA1/ BRCA2 in several genetic isolates. The Christian Arab population in the Middle East is a relatively isolated ethnic group, yet founder, or recurrent BRCA1/BRCA2 PVs have not been reported in this population. In this study we describe PVs...

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PMID: 33999380
DOI: 10.1007/s10689-021-00262-0

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