A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer

Pathologie-biologie
N Hadiji-AbbesR Mokdad-Gargouri

Abstract

Breast cancer is increasing among young women in Tunisia. Germline mutations in the BRCA1/2 genes are associated with a high risk for breast cancer development. However, the true contribution of BRCA1/2 mutation in sporadic breast cancer is not well documented. Our aim is to identify the BRCA2 mutation spectrum in Tunisian young women with breast cancer. Screening the BRCA2 gene was performed using DHPLC, DNA sequencing and PCR-RFLP. We identified, in a woman diagnosed with early onset breast cancer, and without family history, a novel in frame deletion 5456delGTAGCA in the exon 11 of the BRCA2 gene which causes a loss of two residues Ser1743-Ser1744. The absence of this deletion in the patients' parents suggests that it is a de novo variant. Furthermore, we screened 108 sporadic cases, 50 familial cases, and 60 controls for the identified del6bp using PCR-RFLP. None of them carried this deletion suggesting that this variant is not a benign polymorphism and probably rare in our population. With regards to the position of the Ser1743-1744 in the BRCT domain, sequence alignment revealed that the Ser1743 is conserved among several species, which may reflect its importance in the BRCA2 function. A modeling of the wild-type and muta...Continue Reading

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Citations

Feb 16, 2017·PloS One·Jacopo AzzolliniSiranoush Manoukian
Sep 29, 2018·Global Health, Epidemiology and Genomics·A AbbadF Radouani
Aug 18, 2017·BMC Medical Genetics·Alsmawal A ElimamMohamed Ahmed Salih Hassan
Mar 5, 2021·Frontiers in Oncology·Solomon O RotimiBodour Salhia
Jun 20, 2020·Cancer Epidemiology·Eyituoyo OkoturoJohn Wemambu

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