Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer

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• 作者：Ana Rafaela de Souza Timoteo (1)
  Betina Menezes Albuquerque (2)
  Patricia Cristina Pascoto Moura (3)
  Carlos Cesar de Oliveira Ramos (4)
  Lucymara Fassarela Agnez-Lima (1)
  Tom Walsh (5)
  Mary-Claire King (5)
  Tirzah Braz Petta Lajus (3)
  
  1. Universidade Federal do Rio Grande do Norte ; Av. Senador Salgado Filho ; s/n ; Natal ; RN ; Brazil
  2. Hospital Liga contra o C芒ncer ; Departamento de Mastologia ; Natal ; RN ; Brazil
  3. Hospital Liga contra o C芒ncer ; Departamento de Pesquisa Translacional ; Natal ; RN ; Brazil
  4. Hospital Liga contra o C芒ncer ; Laborat贸rio de Patologia Cir煤rgica ; Natal ; RN ; Brazil
  5. University of Washington ; Department of Medicine and Genome Sciences ; Health Sciences K-160 ; Seattle ; USA
  
• 关键词：Male Breast Cancer (MBC) ; BRCA2 mutation ; Next ; generation sequencing ; Large genomic deletion
• 刊名：Hereditary Cancer in Clinical Practice
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：13
• 期：1
• 全文大小：1,231 KB
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• 刊物主题：Oncology; Cancer Research; Human Genetics;
• 出版者：BioMed Central
• ISSN：1897-4287

文摘

Background Male breast cancer (MBC) is an uncommon disease that has been the focus of limited research. It is estimated that approximately 10% of men with breast cancer have a genetic predisposition, with BRCA2 being the most prevalent genetic mutation. Here we describe the case of MBC in a 64-year-old man who presented on physical examination a nodule in his left breast and declared to have an extensive family history of cancer. Methods and results The patient was firstly diagnosed with an invasive ductal carcinoma (IDC) with histological grade III, nuclear grade 3, pT4N2Mx and positive for hormonal receptors and HER2. Exome sequencing was performed by massive parallel sequencing which had detected a novel BRCA2 germline mutation that is a large genomic deletion of 3,492 nucleotides including BRCA2 exon 14, and this deletion is out of frame and is predicted to lead to a stop codon in exon 15 at codon 2,496. Conclusion Large rearrangements in BRCA1 and BRCA2 occur in a small percentage (BRCA2 exon 14, which leads to a truncated protein and therefore is clinically relevant. Mutation segregation analysis should be further done in the Brazilian population. Herein we highlight the importance of next-generation sequencing in the detection of large genomic deletions.