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DURHAM, N.C. \u2013 A new study reveals that about one in 12 patients who are diagnosed with two or more different types of cancer were born with a mutation in a known cancer risk gene. This discovery could reshape how genetic testing is offered to cancer patients.<\/p>\n
The study<\/a> by Duke Health researchers is published in the Journal of the American Medical Association (JAMA) Oncology.<\/p>\n People with multiple cancer diagnoses are not routinely tested for inherited cancer risk genes. The study\u2019s authors suggest that the elevated frequency of inherited cancer risk genes in this group warrants broader access to genetic screening, which could inform treatment decisions, guide screening for additional cancers, and alert family members to potential inherited risks.<\/p>\n \u201cAs more patients survive their first cancer, we\u2019re learning that many carry inherited genetic mutations that put them at risk for developing additional cancers,\u201d said Kathleen Cooney, M.D., senior author of the study and George Barth Geller Distinguished Professor of Medicine and chair in the Department of Medicine<\/a> at Duke University School of Medicine<\/a>.<\/p>\n \u201cKnowing this opens the door to earlier screening, more personalized treatment, and the chance to protect family members through genetic testing,\u201d Cooney said.<\/p>\n Using data from the UK Biobank, which includes genetic and health information from hundreds of thousands of participants, the team analyzed 96 established cancer predisposition genes across 11 common cancers. This included the BRCA1 and BRCA2 genes, which are well known to be associated with cancer.<\/p>\n They found that 8.36% of individuals with multiple cancer diagnoses had a rare pathogenic variant in one of these genes. Notably, the study confirmed associations between BRCA2 and cancers not traditionally linked to the gene, such as bladder and lung cancer.<\/p>\n Because the study looked at a large group of people from the general population \u2013 not just families with a history of cancer or patients referred to specialized clinics \u2013 it provides a clearer picture of how common inherited cancer risks really are.<\/p>\n \u201cWe’ve now implicated some potential cancers that patients may be at risk for, which is different than what we’re seeing during family-based studies,\u201d said Jeffrey Shevach, M.D., the study\u2019s first author and assistant professor in the Department of Medicine at Duke University School of Medicine.<\/p>\n \u201cAs we uncover new gene-cancer associations, it may lead to changes in screening guidelines to reflect this broader understanding of inherited risk,\u201d said Shevach.<\/p>\n In addition to Cooney and Shevach, study authors include Jianfeng Xu, Nathan Snyder, Jun Wei, Zhuqing Shi, Huy Tran, Lilly Zheng, and Jennifer L. Beebe-Dimmer.<\/p>\n The research was funded by the National Institutes of Health (PO1 CA272239).<\/p>\n","protected":false},"excerpt":{"rendered":"Contact DURHAM, N.C. \u2013 A new study reveals that about one in 12 patients who are diagnosed with…\n","protected":false},"author":2,"featured_media":381593,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,70,16,15],"class_list":{"0":"post-381592","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-uk","11":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/115109883160318277","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/381592","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=381592"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/381592\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/381593"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=381592"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=381592"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=381592"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}