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

Autor: Reznick Levi G; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. g_reznick@rambam.health.gov.il., Larom G; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Ofen Glassner V; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Sharon Swartzman N; Institute of Medical Genetics, Meir Medical Center, Kfar Saba, Israel., Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Baris-Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2022 Jul; Vol. 21 (3), pp. 289-294. Date of Electronic Publication: 2021 May 17.
DOI: 10.1007/s10689-021-00262-0
Abstrakt: 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 detected in cancer susceptibility genes among a cohort of Christian Arabs from Israel. We reviewed patient records from the Oncogenetic clinic at Rambam Health Care Campus during the years 2013- mid 2020. Thirty-five unrelated Christian Arab patients, with personal or family history of BC and/or OC underwent BRCA1/BRCA2 (14/35) testing or cancer gene panel testing (21/35) as part of their diagnostic workup. Three clinically significant variants in BRCA2, CHEK2 and RAD51C were found in 7/35 patients (20%). A recurrent duplication of the BRCA2 genomic region, encompassing exons 5-10 and the 5' portion of exon 11, was found in 5/33 (15.2%) patients for whom copy number variants (CNVs) analysis was performed. We identified a recurrent pathogenic BRCA2 duplication in Christian Arab patients with a personal/ family history of BC and/or OC. Our findings emphasize the importance of inclusion of CNVs analysis in BRCA1/BRCA2 genetic testing, and specifically for Christian Arab patients suspected of hereditary BC and/or OC.
(© 2021. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
Externí odkaz: