ArticleCancers2022
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Article in Cancers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Current Perspectives on Non-Metastatic Male Breast Cancer: Genetics, Biology, and Treatment Advances: A Systematic Review.Cancers · 2025Review
- Awareness and knowledge of familial breast and ovarian cancer among German general practice patients.Journal of genetic counseling · 2025Article
- Acceptance and attitudes towards genetic cancer testing among German general practice patients: a cross-sectional survey.Family medicine and community health · 2025Article
- Diseases of the Male Breast: Gynecomastia and Breast Cancer.Deutsches Arzteblatt international · 2025Review
- Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.International journal of molecular sciences · 2025Article
- Review
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Case Report: A rare case of male breast synovial sarcoma.Frontiers in oncology · 2025Article
- Article
- Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondJournal of medical genetics · 2024Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Male Breast Cancer: An Updated Review of Patient Characteristics, Genetics, and Outcome.International journal of breast cancer · 2024Review
- Primary Prevention and Early Detection of Hereditary Breast Cancer.Breast care (Basel, Switzerland) · 2023Review
- The Role of the Surgeon in the Germline Testing of the Newly Diagnosed Breast Cancer Patient.Current oncology (Toronto, Ont.) · 2023Review
- Orbital Metastases of Breast Cancer in Males.Diagnostics (Basel, Switzerland) · 2023Article
- Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.Healthcare (Basel, Switzerland) · 2022Article
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Authors and funding
26 authors at 15 institutions in 1 country.
Funding
Abstract
Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence of PVs in BRCA1/2 and 23 non-BRCA1/2 genes using a sample of 614 patients with mBC, recruited through the centers of the German Consortium for Hereditary Breast and Ovarian Cancer. A high proportion of patients with mBC carried PVs in BRCA2 (23.0%, 142/614) and BRCA1 (4.6%, 28/614). The prevalence of BRCA1/2 PVs was 11.0% in patients with mBC without a family history of breast and/or ovarian cancer. Patients with BRCA1/2 PVs did not show an earlier disease onset than those without. The predominant clinical presentation of tumor phenotypes was estrogen receptor (ER)-positive, progesterone receptor (PR)-positive, and HER2-negative (77.7%); further, 10.2% of the tumors were triple-positive, and 1.2% were triple-negative. No association was found between ER/PR/HER2 status and BRCA1/2 PV occurrence. Comparing the prevalence of protein-truncating variants (PTVs) between patients with mBC and control data (ExAC, n = 27,173) revealed significant associations of PTVs in both BRCA1 and BRCA2 with mBC (BRCA1: OR = 17.04, 95% CI = 10.54−26.82, p < 10−5; BRCA2: OR = 77.71, 95% CI = 58.71−102.33, p < 10−5). A case-control investigation of 23 non-BRCA1/2 genes in 340 BRCA1/2-negative patients and ExAC controls revealed significant associations of PTVs in CHEK2, PALB2, and ATM with mBC (CHEK2: OR = 3.78, 95% CI = 1.59−7.71, p = 0.002; PALB2: OR = 14.77, 95% CI = 5.02−36.02, p < 10−5; ATM: OR = 3.36, 95% CI = 0.89−8.96, p = 0.04). Overall, our findings support the benefit of multi-gene panel testing in patients with mBC irrespective of their family history, age at disease onset, and tumor phenotype.
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