ArticleBreast cancer research and treatment2011
Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.
Article in Breast cancer research and treatment, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 124 citations in OpenAlex.
- SEOM-GEICAM-SOLTI clinical guidelines in advanced breast cancer (UPDATE 2025).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Guideline
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.Pathophysiology : the official journal of the International Society for Pathophysiology · 2026Article
- Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.Genetics in medicine open · 2025Article
- Trends and efficacy of omitting axillary lymph node dissection in early-stage male breast cancer with limited nodal involvement: A population-based cohort study.Cancer medicine · 2024Article
- BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.JAMA oncology · 2024Review
- Trends in incidence, prevalence, and survival of breast cancer in the United Kingdom from 2000 to 2021.Scientific reports · 2024Article
- Genomic profiling and comparative analysis of male versus female metastatic breast cancer across subtypes.Breast cancer research : BCR · 2024Article
- Male Breast Cancer: Imaging Considerations for Diagnosis and Surveillance.Journal of clinical medicine research · 2024Review
- Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.Pathologica · 2024Review
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Trends and Age-Period-Cohort Effect on Incidence of Male Breast Cancer from 1980 to 2019 in Taiwan and the USA.Cancers · 2024Article
- Male Breast Cancer: a Review on Diagnosis, Treatment, and Survivorship.Current oncology reports · 2024Review
- SEOM-GEICAM-SOLTI clinical guidelines in advanced breast cancer (2022).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Article
- Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.Cancers · 2023Article
- Impacts of Subtype on Clinical Feature and Outcome of Male Breast Cancer: Multicenter Study in Korea (KCSG BR16-09).Cancer research and treatment · 2023Article
- Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.ACS omega · 2022Article
- Article
- Analysis of the Clinical Advancements forCancers · 2022Review
- Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
Male breast cancer (MBC) is an uncommon disease with a frequency of approximately one in 1000. Due to the rarity of MBC, it is understudied and its etiology is poorly understood. Our objectives are to determine the frequency of pathogenic mutations in BRCA2 and PALB2 in MBC cases and to investigate the correlations between mutation status and cancer phenotypes. Single strand conformation polymorphism analysis, direct sequencing, and multiplex ligation-dependent probe amplification were employed to screen for mutations in the BRCA2 gene, followed by direct sequencing of the PALB2 gene in BRCA2-negative MBC cases. Pathogenic BRCA2 mutations were identified in 18 of the 115 MBC cases, including four of the ten cases (40%) from breast cancer families and 14 of the 105 cases (13%) unselected for family history of breast cancer. The difference in BRCA2-mutation frequencies between cases with and without family history of breast cancer was not statistically significant (P = 0.145), suggesting that family history is not a strong predictor of carrying a mutation in males. We observed a highly significant association of carrying a pathogenic BRCA2 mutation with high tumor grade (P < 0.001) and a weak association with positive lymph nodes (P < 0.02). Of the 97 BRCA2-negative MBC cases, we identified one PALB2 mutation with confirmed pathogenicity and one mutation predicted to be pathogenic, a prevalence of pathogenic PALB2-mutation of 1-2%. Based on our results and previous studies, genetic testing for BRCA2 should be recommended for any diagnosed MBC case, regardless of family history of breast cancer.
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