RESUMO
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.
Assuntos
Proteína BRCA2/genética , Neoplasias da Mama Masculina/genética , Predisposição Genética para Doença , Adulto , Idoso , Dineínas do Axonema/genética , Proteína BRCA1/genética , Neoplasias da Mama Masculina/congênito , Neoplasias da Mama Masculina/diagnóstico por imagem , Neoplasias da Mama Masculina/patologia , Proteínas de Ciclo Celular/genética , Receptor DCC/genética , Forminas/genética , Mutação da Fase de Leitura , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Linhagem , Receptor ErbB-3/genética , Receptor Notch3/genética , Transdução de Sinais/genética , Tunísia , Sequenciamento do ExomaRESUMO
A case report and review of the literature are reported for giant cell fibroblastoma of the breast in a child. This is the first reported case of a congenital occurrence of this tumor type (giant cell fibroblastoma).
