ArticleBritish journal of cancer2014
Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.
Article in British journal of cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- Statistical genomics in rare cancer.Seminars in cancer biology · 2020Pooled it
- Targeted next-generation sequencing reveals genomic differences between male and female breast cancer.Translational cancer research · 2025Article
- Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.Genetics in medicine open · 2025Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Prevalence of Imaging Detected Silent Male Breast Cancer in Autopsy Specimens: Study of the Disease Held by Image-Guided Biopsies.Academic forensic pathology · 2023Article
- Review
- Male and female breast cancer: the two faces of the same genetic susceptibility coin.Breast cancer research and treatment · 2021Article
- Management and outcome of male metastatic breast cancer in the national multicenter observational research program Epidemiological Strategy and Medical Economics (ESME).Therapeutic advances in medical oncology · 2020Article
- Identifying Methylation Pattern and Genes Associated with Breast Cancer Subtypes.International journal of molecular sciences · 2019Article
- Estrogen receptor-α promoter methylation is a biomarker for outcome prediction of cisplatin resistance in triple-negative breast cancer.Oncology letters · 2018Article
- Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers.Oncotarget · 2016Article
- The Genomic Landscape of Male Breast Cancers.Clinical cancer research : an official journal of the American Association for Cancer Research · 2016Article
- Mutation distributions and clinical correlations of PIK3CA gene mutations in breast cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMale breast cancer (MBC) is still poorly understood with a large proportion arising in families with a history of breast cancer. Genomic studies have focused on germline determinants of MBC risk, with minimal knowledge of somatic changes in these cancers.
methodsUsing a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant, 17 BRCA2 germline mutant and 28 BRCAX) for hotspot somatic mutations and copy number changes in 48 common cancer genes.
resultsTwelve missense mutations included nine PIK3CA mutations (seven in BRCAX patients), two TP53 mutations (both in BRCA2 patients) and one PTEN mutation. Common gains were seen in GNAS (34.1%) and losses were seen in GNAQ (36.4%), ABL1 (47.7%) and ATM (34.1%). Gains of HRAS (37.5% vs 3%, P=0.006), STK11 (25.0% vs 0%, P=0.01) and SMARCB1 (18.8% vs 0%, P=0.04) and the loss of RB1 (43.8% vs 13%, P=0.03) were specific to BRCA2 tumours.
conclusionsThis study is the first to perform high-throughput somatic sequencing on familial MBCs. Overall, PIK3CA mutations are most commonly seen, with fewer TP53 and PTEN mutations, similar to the profile seen in luminal A female breast cancers. Differences in mutation profiles and patterns of gene gains/losses are seen between BRCA2 (associated with TP53/PTEN mutations, loss of RB1 and gain of HRAS, STK11 and SMARCB1) and BRCAX (associated with PIK3CA mutations) tumours, suggesting that BRCA2 and BRCAX MBCs may be distinct and arise from different tumour pathways. This has implications on potential therapies, depending on the BRCA status of MBC patients.
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