ArticleHereditary cancer in clinical practice2015
Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
Article in Hereditary cancer in clinical practice, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- The germline mutational landscape of BRCA1 and BRCA2 in Brazil.Scientific reports · 2018Trial
- Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.World journal of clinical oncology · 2024Article
- Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.Oncotarget · 2021Article
- Review
- Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.Journal of hematology & oncology · 2019Review
- Frequency of Rearrangements Versus Small Indels Mutations inEuropean journal of breast health · 2018Article
- Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report.International journal of molecular sciences · 2017Article
- Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.Molecular diagnosis & therapy · 2017Article
- Novel applications of next-generation sequencing in breast cancer research.Genes & diseases · 2017Review
- Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.Scientific reports · 2017Article
- Article
- A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.Oncoscience · 2015Article
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
backgroundMale 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
resultsThe 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.
conclusionLarge rearrangements in BRCA1 and BRCA2 occur in a small percentage (<1%) of patients tested for hereditary breast and ovarian cancer. This is the first report of the mutation del3492 in 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.
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