ArticleThe oncologist2015
BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.
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Article in The oncologist, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
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45citing papers in PubMed, 2 pooled it
3.0field-weighted citation impact, top 9% of its field
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Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.BMC cancer · 2019Pooled it
- Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant.Genetics and molecular biology · 2026Article
- Engineered nanoparticles for endocrine tumor targeting, current progress and future outlook.Medical oncology (Northwood, London, England) · 2025Review
- Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.Scientific reports · 2025Article
- Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.World journal of clinical oncology · 2024Article
- Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Assessing the Impact of NovelCells · 2024Article
- The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.Cancers · 2023Article
- The Landscape of BRCA Mutations among Egyptian Women with Breast Cancer.Oncology and therapy · 2023Review
- Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.Oncotarget · 2023Article
- Article
- DNA damage response signaling: A common link between cancer and cardiovascular diseases.Cancer medicine · 2023Review
- Global trends inFrontiers in oncology · 2023Article
- Over-expression of miR-183-5p or miR-492 triggers invasion and proliferation and loss of polarity in non-neoplastic breast epithelium.Scientific reports · 2022Article
- A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.Familial cancer · 2022Article
- Article
- Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.European journal of breast health · 2022Article
- Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.Oncotarget · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 3 institutions in 3 countries.
Nagi S El SaghirDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA nagi.saghir@aub.edu.lb.
Nathalie K ZgheibDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Hussein A AssiDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Katia E KhouryDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Yannick BidetDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Sara M JaberDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Raghid N ChararaDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Rania A FarhatDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Firas Y KreidiehDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Stephanie DecoususDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Pierre RomeroDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Georges M NemerDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Ziad SalemDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Ali ShamseddineDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Arafat TfayliDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Jaber AbbasDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Faek JamaliDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Muhieddine SeoudDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Deborah K ArmstrongDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Yves-Jean BignonDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Nancy UhrhammerDivision of Hematology-Oncology, Department of Internal Medicine, and Departments of Pharmacology and Toxicology, Surgery, and Obstetrics and Gynecology, American University of Beirut, Lebanon; University of Auvergne and Laboratoire Diagnostique Génétique et Moléculaire, Centre Jean Perrin, Clermont-Ferrand, France; Sidney Kimmel Comprehensive Cancer Center and Department of Gynecology and Obstetrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
American University of Beirut · LBCentre Jean Perrin · FRSidney Kimmel Comprehensive Cancer Center · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBreast cancer is the most common malignancy among women in Lebanon and in Arab countries, with 50% of cases presenting before the age of 50 years.
methodsBetween 2009 and 2012, 250 Lebanese women with breast cancer who were considered to be at high risk of carrying BRCA1 or BRCA2 mutations because of presentation at young age and/or positive family history (FH) of breast or ovarian cancer were recruited. Clinical data were analyzed statistically. Coding exons and intron-exon boundaries of BRCA1 and BRCA2 were sequenced from peripheral blood DNA. All patients were tested for BRCA1 rearrangements using multiplex ligation-dependent probe amplification (MLPA). BRCA2 MLPA was done in selected cases.
resultsOverall, 14 of 250 patients (5.6%) carried a deleterious BRCA mutation (7 BRCA1, 7 BRCA2) and 31 (12.4%) carried a variant of uncertain significance. Eight of 74 patients (10.8%) aged ≤40 years with positive FH and only 1 of 74 patients (1.4%) aged ≤40 years without FH had a mutated BRCA. Four of 75 patients (5.3%) aged 41-50 years with FH had a deleterious mutation. Only 1 of 27 patients aged >50 years at diagnosis had a BRCA mutation. All seven patients with BRCA1 mutations had grade 3 infiltrating ductal carcinoma and triple-negative breast cancer. Nine BRCA1 and 17 BRCA2 common haplotypes were observed.
conclusionPrevalence of deleterious BRCA mutations is lower than expected and does not support the hypothesis that BRCA mutations alone cause the observed high percentage of breast cancer in young women of Lebanese and Arab descent. Studies to search for other genetic mutations are recommended.
Indexed as
MutationAdultArabsBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCohort StudiesFemaleGenetic Predisposition to DiseaseHaplotypesHumansLebanonMiddle AgedBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanArab countriesBRCA mutationsBreast cancerFamily historyHaplotypeLebanonYoung age
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