1. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
- Author
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Nancy Uhrchammer, Eliane Chouery, André Mégarbané, Dominique Stoppa-Lyonnet, Jinane Nassar-Slaba, Lisa Golmard, Nadine Jalkh, Nabiha Salem, Yves-Jean Bignon, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Département d'Oncogénétique, Institut National de la Recherche Agronomique ( INRA ) -Réseau National Alimentation Cancer Recherche (réseau NACRe)-Centre Jean Perrin (CJP-EA 4233), Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Unité de Génétique Médicale, Université Saint-Joseph de Beyrouth ( USJ ) -Faculté de Médecine, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER-Institut National de la Recherche Agronomique (INRA)-Réseau National Alimentation Cancer Recherche (réseau NACRe), Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Saint-Joseph de Beyrouth (USJ)-Faculté de Médecine, Institut National de la Recherche Agronomique (INRA)-Réseau National Alimentation Cancer Recherche (réseau NACRe)-Centre Jean Perrin (CJP-EA 4233), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Réseau National Alimentation Cancer Recherche (réseau NACRe)-Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, and BMC, Ed.
- Subjects
Oncology ,endocrine system diseases ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,medicine.disease_cause ,Gene ,[ SDV.CAN ] Life Sciences [q-bio]/Cancer ,0302 clinical medicine ,Breast cancer ,Familial ,Family history ,Lebanon ,skin and connective tissue diseases ,Genetics (clinical) ,Cancer ,Genetics ,0303 health sciences ,Mutation ,education.field_of_study ,Mutation Spectra ,Family aggregation ,SDV:GEN ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,3. Good health ,030220 oncology & carcinogenesis ,medicine.medical_specialty ,lcsh:QH426-470 ,Population ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Malignancy ,lcsh:RC254-282 ,03 medical and health sciences ,Germline mutation ,[SDV.CAN] Life Sciences [q-bio]/Cancer ,Internal medicine ,medicine ,BRCA1 ,BRCA2 ,education ,030304 developmental biology ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Research ,medicine.disease ,lcsh:Genetics ,business ,[ SDV.GEN ] Life Sciences [q-bio]/Genetics - Abstract
Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5–10 % of all BC cases, and germline mutations in BRCA1 and BRCA2 account for less of the half of these inherited cases. In Lebanon, breast cancer represents the principal death-causing malignancy among women, with 50 % of the cases diagnosed before the age of 50 years. In order to study BRCA1/2 mutation spectra in the Lebanese population, 72 unrelated patients with a reported family history of breast and/or ovarian cancers or with an early onset breast cancer were tested. Fluorescent direct sequencing of the entire coding region and intronic sequences flanking each exon was performed. A total of 38 BRCA1 and 40 BRCA2 sequence variants were found. Seventeen of them were novel. Seven confirmed deleterious mutations were identified in 9 subjects providing a frequency of mutations of 12.5 %. Fifteen variants were considered of unknown clinical significance according to BIC and UMD-BRCA1/BRCA2 databases. In conclusion, this study represents the first evaluation of the deleterious and unclassified genetic variants in the BRCA1/2 genes found in a Lebanese population with a relatively high risk of breast cancer.
- Published
- 2012
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