{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:58:33Z","timestamp":1790402313609,"version":"4.1.0"},"reference-count":0,"publisher":"Bioscientifica","issue":"10","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:p>\n                    Male breast cancer (MBC) is extremely rare and accounts for less than 1% of all breast malignancies. Therefore, clinical management of MBC is currently guided by research on the disease in females. In this study, DNA obtained from 45 formalin-fixed paraffin-embedded (FFPE) MBCs with and 90 MBCs (52 FFPE and 38 fresh-frozen) without matched normal tissues was subjected to massively parallel sequencing targeting all exons of 1943 cancer-related genes. The landscape of mutations and copy number alterations was compared to that of publicly available estrogen receptor (ER)-positive female breast cancers (smFBCs) and correlated to prognosis. From the 135 MBCs, 90% showed ductal histology, 96% were ER-positive, 66% were progesterone receptor (PR)-positive, and 2% HER2-positive, resulting in 50, 46 and 4% luminal A-like, luminal B-like and basal-like cases, respectively. Five patients had Klinefelter syndrome (4%) and 11% of patients harbored pathogenic\n                    <jats:italic>BRCA2<\/jats:italic>\n                    germline mutations. The genomic landscape of MBC to some extent recapitulated that of smFBC, with recurrent\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    (36%) and\n                    <jats:italic>GATA3<\/jats:italic>\n                    (15%) somatic mutations, and with 40% of the most frequently amplified genes overlapping between both sexes.\n                    <jats:italic>TP53<\/jats:italic>\n                    (3%) somatic mutations were significantly less frequent in MBC compared to smFBC, whereas somatic mutations in genes regulating chromatin function and homologous recombination deficiency-related signatures were more prevalent.\n                    <jats:italic>MDM2<\/jats:italic>\n                    amplifications were frequent (13%), correlated with protein overexpression (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.001) and predicted poor outcome (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.007). In conclusion, despite similarities in the genomic landscape between MBC and smFBC, MBC is a molecularly unique and heterogeneous disease requiring its own clinical trials and treatment guidelines.\n                  <\/jats:p>","DOI":"10.1530\/erc-19-0278","type":"journal-article","created":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T11:59:15Z","timestamp":1563969555000},"page":"779-794","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-8","source":"Crossref","is-referenced-by-count":38,"title":["The molecular genetic make-up of male breast cancer"],"prefix":"10.1530","volume":"26","author":[{"given":"Cathy B","family":"Moelans","sequence":"first","affiliation":[{"name":"1Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joep","family":"de Ligt","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"van der Groep","sequence":"additional","affiliation":[{"name":"1Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"},{"name":"3Department of Internal Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pjotr","family":"Prins","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolle J M","family":"Besselink","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"},{"name":"4Center for Personalized Cancer Treatment, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlous","family":"Hoogstraat","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie D","family":"ter Hoeve","sequence":"additional","affiliation":[{"name":"1Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miangela M","family":"Lacle","sequence":"additional","affiliation":[{"name":"1Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kornegoor","sequence":"additional","affiliation":[{"name":"5Department of Pathology, Gelre Ziekenhuizen, Appeldoorn, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen C","family":"van der Pol","sequence":"additional","affiliation":[{"name":"6Cancer Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy W J","family":"de Leng","sequence":"additional","affiliation":[{"name":"1Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellis","family":"Barb\u00e9","sequence":"additional","affiliation":[{"name":"7Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"van der Vegt","sequence":"additional","affiliation":[{"name":"8Department of Pathology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Martens","sequence":"additional","affiliation":[{"name":"9Department of Medical Oncology, Daniel den Hoed Cancer Center, Erasmus University Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bult","sequence":"additional","affiliation":[{"name":"10Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent T H B M","family":"Smit","sequence":"additional","affiliation":[{"name":"11Department of Pathology, LUMC, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco J","family":"Koudijs","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"},{"name":"4Center for Personalized Cancer Treatment, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac J","family":"Nijman","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"},{"name":"4Center for Personalized Cancer Treatment, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emile E","family":"Voest","sequence":"additional","affiliation":[{"name":"4Center for Personalized Cancer Treatment, Rotterdam, The Netherlands"},{"name":"12Department of Medical Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pier","family":"Selenica","sequence":"additional","affiliation":[{"name":"13Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britta","family":"Weigelt","sequence":"additional","affiliation":[{"name":"13Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge S","family":"Reis-Filho","sequence":"additional","affiliation":[{"name":"13Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsken","family":"van der Wall","sequence":"additional","affiliation":[{"name":"6Cancer Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Cuppen","sequence":"additional","affiliation":[{"name":"2Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"},{"name":"14Cancer Genomics.nl, Center for Molecular Medicine, UMC Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"van Diest","sequence":"additional","affiliation":[{"name":"1Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/26\/10\/ERC-19-0278.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/26\/10\/ERC-19-0278.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:55:24Z","timestamp":1784555724000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/26\/10\/779-794\/25245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":0,"journal-issue":{"issue":"10"},"URL":"https:\/\/doi.org\/10.1530\/erc-19-0278","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10]]}}}