{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:31:55Z","timestamp":1792805515363,"version":"4.5.0"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,12,17]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Male breast cancer is rare and has been frequently associated with cancer predisposing variants, particularly in <jats:italic>BRCA 1<\/jats:italic> and <jats:italic>BRCA 2<\/jats:italic> genes. <jats:italic>ATM<\/jats:italic> pathogenic variants may also increase risk for breast and other cancers. However, less than 10 cases relating <jats:italic>ATM<\/jats:italic> mutations and male breast cancer have been previously reported. Therefore, risk estimates and surveillance recommendations are not well established. We report a case of a male patient with breast cancer found to be heterozygous for a pathogenic <jats:italic>ATM<\/jats:italic> variant after multigene testing. We also review the literature regarding increased cancer risk associated with <jats:italic>ATM<\/jats:italic> germline variants, with emphasis on potential recommendations for surveillance and follow-up.<\/jats:p>","DOI":"10.1136\/bcr-2020-238100","type":"journal-article","created":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T12:11:01Z","timestamp":1610971861000},"page":"e238100","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["<i>ATM<\/i> germline variants and male breast cancer"],"prefix":"10.1136","volume":"14","author":[{"given":"Renato","family":"Cunha","sequence":"first","affiliation":[{"name":"Medical Oncology Department, Hospital do Esp\u00edrito Santo de \u00c9vora EPE, \u00c9vora, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscila","family":"Nejo","sequence":"additional","affiliation":[{"name":"Medical Oncology Department, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Bento","sequence":"additional","affiliation":[{"name":"Familial Cancer Risk Clinic, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e1tima","family":"Vaz","sequence":"additional","affiliation":[{"name":"Familial Cancer Risk Clinic, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,1,18]]},"reference":[{"key":"2025082803235028000_14.1.e238100.1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s10549-018-4661-x","article-title":"Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer","volume":"169","author":"Fostira","year":"2018","journal-title":"Breast Cancer Res Treat"},{"key":"2025082803235028000_14.1.e238100.2","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1007\/s10549-016-4085-4","article-title":"Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results","volume":"161","author":"Pritzlaff","year":"2017","journal-title":"Breast Cancer Res Treat"},{"key":"2025082803235028000_14.1.e238100.3","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.29010"},{"key":"2025082803235028000_14.1.e238100.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104588"},{"key":"2025082803235028000_14.1.e238100.5","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji141"},{"key":"2025082803235028000_14.1.e238100.6","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-11-0194"},{"key":"2025082803235028000_14.1.e238100.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1837"},{"key":"2025082803235028000_14.1.e238100.8","doi-asserted-by":"crossref","first-page":"452","DOI":"10.6004\/jnccn.2020.0016","article-title":"Breast cancer, version 3.2020, NCCN clinical practice guidelines in oncology","volume":"18","author":"Gradishar","year":"2020","journal-title":"J Natl Compr Canc Netw"},{"key":"2025082803235028000_14.1.e238100.9","doi-asserted-by":"crossref","DOI":"10.1186\/s13058-018-0951-9","article-title":"Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers","volume":"20","author":"Renault","year":"2018","journal-title":"Breast Cancer Res"},{"key":"2025082803235028000_14.1.e238100.10","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdw327"},{"key":"2025082803235028000_14.1.e238100.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1501341"},{"key":"2025082803235028000_14.1.e238100.12","unstructured":"Daly MB , Pal T , Berry MP . NCCN clinical practice guidelines in oncology: Genetic\/Familial high-risk assessment: breast, ovarian and pancreatic 2020."},{"key":"2025082803235028000_14.1.e238100.13","unstructured":"Ferlay J , Colombet M , Soerjomataram I . Global and regional estimates of the incidence and mortality for 38 cancers: GLOBOCAN 2018. Lyon: International Agency for Research on Cancer\/World Health Organization, 2018."},{"key":"2025082803235028000_14.1.e238100.14","unstructured":"National Center for Biotechnology Information . ClinVar. [VCV000141182.6] 2020 https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000141182.6"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-238100","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:24:02Z","timestamp":1756376642000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-238100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,1,18]]},"published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1136\/bcr-2020-238100"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-238100","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1]]}}}