{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T20:47:10Z","timestamp":1790455630011,"version":"4.1.0"},"reference-count":38,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T00:00:00Z","timestamp":1656979200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"German Cancer Aid","award":["grant no 110837"],"award-info":[{"award-number":["grant no 110837"]}]},{"name":"German Cancer Aid","award":["grant no 70114178"],"award-info":[{"award-number":["grant no 70114178"]}]},{"name":"German Cancer Aid","award":["grant no 01GY1901"],"award-info":[{"award-number":["grant no 01GY1901"]}]},{"name":"Federal Ministry of Education and Research (BMBF), Germany","award":["grant no 110837"],"award-info":[{"award-number":["grant no 110837"]}]},{"name":"Federal Ministry of Education and Research (BMBF), Germany","award":["grant no 70114178"],"award-info":[{"award-number":["grant no 70114178"]}]},{"name":"Federal Ministry of Education and Research (BMBF), Germany","award":["grant no 01GY1901"],"award-info":[{"award-number":["grant no 01GY1901"]}]},{"name":"K\u00f6ln Fortune Program, Faculty of Medicine, University of Cologne, Germany","award":["grant no 110837"],"award-info":[{"award-number":["grant no 110837"]}]},{"name":"K\u00f6ln Fortune Program, Faculty of Medicine, University of Cologne, Germany","award":["grant no 70114178"],"award-info":[{"award-number":["grant no 70114178"]}]},{"name":"K\u00f6ln Fortune Program, Faculty of Medicine, University of Cologne, Germany","award":["grant no 01GY1901"],"award-info":[{"award-number":["grant no 01GY1901"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>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\u201326.82, p &lt; 10\u22125; BRCA2: OR = 77.71, 95% CI = 58.71\u2013102.33, p &lt; 10\u22125). 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\u20137.71, p = 0.002; PALB2: OR = 14.77, 95% CI = 5.02\u201336.02, p &lt; 10\u22125; ATM: OR = 3.36, 95% CI = 0.89\u20138.96, 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.<\/jats:p>","DOI":"10.3390\/cancers14133292","type":"journal-article","created":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T10:21:33Z","timestamp":1657016493000},"page":"3292","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer"],"prefix":"10.3390","volume":"14","author":[{"given":"Muriel","family":"Rolfes","sequence":"first","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julika","family":"Borde","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7861-3892","authenticated-orcid":false,"given":"Kathrin","family":"M\u00f6llenhoff","sequence":"additional","affiliation":[{"name":"Mathematisches Institut, Heinrich-Heine-Universit\u00e4t Duesseldorf, 40225 Duesseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Kayali","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7756-8815","authenticated-orcid":false,"given":"Corinna","family":"Ernst","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gehrig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Wuerzburg, 97074 Wuerzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4051-5888","authenticated-orcid":false,"given":"Christian","family":"Sutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Heidelberg, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Ramser","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Technical University Munich, 80333 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Niederacher","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judit","family":"Horv\u00e1th","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University Hospital Muenster, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Arnold","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology, Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, 24105 Kiel, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Meindl","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, LMU Munich, University Hospital Munich, 80337 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Auber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Hannover Medical School, 30645 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Rump","sequence":"additional","affiliation":[{"name":"Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, 01062 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Wang-Gohrke","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, University of Ulm, 89075 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Ritter","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics, Charit\u00e9-Universit\u00e4tsmedizin Berlin, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Core Facility Genomics, Berlin Institute of Health, Charit\u00e9-Universit\u00e4tsmedizin Berlin, 10117 Berlin, Germany"},{"name":"Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7228-428X","authenticated-orcid":false,"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Rhiem","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7247-282X","authenticated-orcid":false,"given":"Christoph","family":"Engel","sequence":"additional","affiliation":[{"name":"Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Wappenschmidt","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita K.","family":"Schmutzler","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Hahnen","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8236-4075","authenticated-orcid":false,"given":"Jan","family":"Hauke","sequence":"additional","affiliation":[{"name":"Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50937 Cologne, 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