BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer

The Oncologist
Nagi S El SaghirNancy Uhrhammer

Abstract

Breast 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. Between 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. Overall, 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 ...Continue Reading

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Citations

Sep 7, 2019·BMC Medical Genetics·Chantal FarraDeborah Mukherji
Feb 17, 2017·BMC Medical Genomics·Nadine JalkhAndre Megarbane
May 10, 2017·International Journal of Cancer. Journal International Du Cancer·Suhair Lolas HamamehMoein Kanaan
Jan 25, 2019·Hereditary Cancer in Clinical Practice·Chantal FarraDeborah Mukherji
Aug 14, 2019·Medicina·Mohamad Y FaresHassan M Khachfe
Feb 7, 2020·NPJ Genomic Medicine·Fawz S AlHarthiMalak Abedalthagafi
Aug 2, 2019·Breast Cancer Research and Treatment·Rinat Bernstein-MolhoYael Goldberg
Nov 21, 2016·Familial Cancer·Aviad ZickTamar Peretz
Feb 5, 2019·International Journal of Breast Cancer·Caglayan GeredeliAbdullah Sakin
Feb 3, 2021·NPJ Genomic Medicine·Fawz S AlHarthiMalak Abedalthagafi

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