Your browser doesn't support javascript.
loading
A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
Reznick Levi, Gili; Larom, Gal; Ofen Glassner, Vered; Ekhilevitch, Nina; Sharon Swartzman, Nitzan; Paperna, Tamar; Baris-Feldman, Hagit; Weiss, Karin.
Afiliación
  • 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.
  • Weiss K; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Fam Cancer ; 21(3): 289-294, 2022 07.
Article en En | MEDLINE | ID: mdl-33999380
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.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias de la Mama / Proteína BRCA2 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans País/Región como asunto: Asia Idioma: En Revista: Fam Cancer Asunto de la revista: NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias de la Mama / Proteína BRCA2 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans País/Región como asunto: Asia Idioma: En Revista: Fam Cancer Asunto de la revista: NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Países Bajos