Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients

Male Breast Cancer (MBC) is a rare and aggressive disease that is associated with genetic factors. Mutations in BRCA1  and  BRCA2  account for 10% of all MBC cases suggesting that other genetic factors are involved. The aim of the present study is to screen whole BRCA1 and BRCA2 exons using the Ampl...

Full description

Saved in:
Bibliographic Details
Published in:Molecular biology reports 2020-09, Vol.47 (9), p.6507-6516
Main Authors: Ben Kridis-Rejeb, Wala, Ben Ayed-Guerfali, Dorra, Ammous-Boukhris, Nihel, Ayadi, Wajdi, Kifagi, Chamseddine, Charfi, Slim, Saguem, Ines, Sellami-Boudawara, Tahia, Daoud, Jamel, Khanfir, Afef, Mokdad-Gargouri, Raja
Format: Article
Language:English
Subjects:
Animal Anatomy
Animal Biochemistry
Biomedical and Life Sciences
BRCA1 protein
BRCA2 protein
Breast cancer
Carcinogenesis
ErbB-3 protein
Exons
Frameshift mutation
Genetic factors
Histology
Life Sciences
Mens health
Morphology
Mutation
Original Article
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Male Breast Cancer (MBC) is a rare and aggressive disease that is associated with genetic factors. Mutations in BRCA1  and  BRCA2  account for 10% of all MBC cases suggesting that other genetic factors are involved. The aim of the present study is to screen whole BRCA1 and BRCA2 exons using the Ampliseq BRCA panel in Tunisian MBC patients with family history. Furthermore, we performed exome sequencing using the TruSight One sequencing panel on an early onset BRCA negative patient. We showed that among the 6 MBC patients, only one (MBC-F1) harbored a novel frameshift mutation in exon 2 of the BRCA2 gene (c.17-20delAAGA, p.Lys6Xfs) resulting in a short BRCA2 protein of only 6 amino-acids. We selected 9 rare variants after applying several filter steps on the exome sequencing data. Among these variants, and based on their role in breast carcinogenesis, we retained 6 candidate genes ( MSH5, DCC, ERBB3, NOTCH3, DIAPH1, and DNAH11 ). Further studies are needed to confirm the association of the selected genes with family MBC.
ISSN:0301-4851
1573-4978
DOI:10.1007/s11033-020-05703-0