{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:39:59Z","timestamp":1792798799975,"version":"4.5.0"},"reference-count":20,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018956","name":"NIHR Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203312"],"award-info":[{"award-number":["NIHR203312"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Australian National Health and Medical Research Council","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}],"id":[{"id":"https:\/\/ror.org\/011kf5r70","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["grant v203477\/Z\/16\/Z"],"award-info":[{"award-number":["grant v203477\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_UU_12015\/2,MC_UU_00006\/2"],"award-info":[{"award-number":["MC_UU_12015\/2,MC_UU_00006\/2"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union\u2019s Horizon 2020 Research and Innovation Program","award":["BRIDGES grant 634935"],"award-info":[{"award-number":["BRIDGES grant 634935"]}]},{"name":"NIHR Applied Research Collaboration NW London","award":["NIHR200180"],"award-info":[{"award-number":["NIHR200180"]}]},{"name":"International Alliance for Cancer Early Detection","award":["C14478\/A29329"],"award-info":[{"award-number":["C14478\/A29329"]}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["PPRPGM-Nov20\\100002"],"award-info":[{"award-number":["PPRPGM-Nov20\\100002"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["PRCPJT-May23\/100035"],"award-info":[{"award-number":["PRCPJT-May23\/100035"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,5,6]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>\n                    Previous studies have suggested the missense variant NM_000051.4(ATM):c.7271T&gt;G is associated with a high risk of breast cancer (BC), but the magnitude of the association, and the associations with other cancer types, are unclear. Cancer associations were evaluated using sequence data linked to cancer registration data (348 488 participants, 56\u2009640 cancer cases) from UK Biobank (UKB), and targeted sequence or genome-wide array data (126\u2009428 cases, 115\u2009495 controls) from the Breast Cancer Association Consortium (BCAC). The magnitudes of the association of c.7271T&gt;G with invasive BC were similar using UKB (relative risk (RR): 4.57, 95% CI: 2.25 to 9.30, p=2.7\u00d710\n                    <jats:sup>\u22125<\/jats:sup>\n                    ) and BCAC (OR: 4.11, 2.05 to 8.26, p=6.9\u00d710\n                    <jats:sup>\u22125<\/jats:sup>\n                    ). In UKB, c.7271T&gt;G was associated with increased risks of prostate cancer (4.84, 2.27 to 10.33, p=4.54\u00d710\n                    <jats:sup>\u22125<\/jats:sup>\n                    ), and any other cancer (males 2.79, 1.33 to 5.85, p=0.0066; females 3.15, 1.49 to 6.63, p=0.0026). Estimated cumulative risks of all cancers to age 80 years were 87% in males (prostate cancer 43%) and 84% in females (BC 43%). The estimated RRs are consistent with c.7271T&gt;G being associated with a risk of more than twice that for Ataxia\u2013Telangiectasia Mutated protein-truncating variants, for all cancers. These data justify specific management of c.7271T&gt;G carriers.\n                  <\/jats:p>","DOI":"10.1136\/jmg-2025-110769","type":"journal-article","created":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T13:20:16Z","timestamp":1748784016000},"page":"547-550","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Associations between\n                    <i>ATM<\/i>\n                    c.7271T&gt;G and cancer risk: analysis of Breast Cancer Association Consortium and UK Biobank data"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4983-495X","authenticated-orcid":false,"given":"Toqir K","family":"Mukhtar","sequence":"first","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge, UK"},{"name":"Department of Primary Care and Public Health, Imperial College 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