{"id":658,"date":"2014-06-17T00:23:24","date_gmt":"2014-06-17T00:23:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=658"},"modified":"2026-02-25T19:45:06","modified_gmt":"2026-02-25T19:45:06","slug":"high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/06\/17\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\/","title":{"rendered":"High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir)"},"content":{"rendered":"<p>In this study we have investigated cancer risks in members of Swedish melanoma-prone families with an inherited mutation in the tumor suppressor gene <em>CDKN2A.<\/em> We find significantly increased risks among carriers not only for melanoma but also for non-melanoma cancers, in particular pancreatic, lung, head and neck and gastro-esophageal cancers. We show a positive association between tobacco smoking and these non-melanoma cancers among mutation carriers. It appears as smoking potentiates the effect of the mutation and greatly enhances the cancer risks in carriers. This is the first study to show an association between smoking and cancer in <em>CDKN2A<\/em> mutation carriers. Our study has important implications for counseling and monitoring of members of melanoma-prone families with inherited <em>CDKN2A <\/em>mutations. Carriers of <em>CDKN2A <\/em>mutations should be informed about the importance of abstinence from tobacco smoking to decrease their risk for non-melanoma cancers. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/06\/15\/jmedgenet-2014-102320\">http:\/\/jmg.bmj.com\/content\/early\/2014\/06\/15\/jmedgenet-2014-102320<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In this study we have investigated cancer risks in members of Swedish melanoma-prone families with an inherited mutation in the tumor suppressor gene CDKN2A. We find significantly increased risks among carriers not only for melanoma but also for non-melanoma cancers, in particular pancreatic, lung, head and neck and gastro-esophageal cancers. We show a positive association [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/06\/17\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-658","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/06\/17\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In this study we have investigated cancer risks in members of Swedish melanoma-prone families with an inherited mutation in the tumor suppressor gene CDKN2A. We find significantly increased risks among carriers not only for melanoma but also for non-melanoma cancers, in particular pancreatic, lung, head and neck and gastro-esophageal cancers. We show a positive association [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/06\/17\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-06-17T00:23:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:45:06+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/06\\\/17\\\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/06\\\/17\\\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir)\",\"datePublished\":\"2014-06-17T00:23:24+00:00\",\"dateModified\":\"2026-02-25T19:45:06+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/06\\\/17\\\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\\\/\"},\"wordCount\":168,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/06\\\/17\\\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/06\\\/17\\\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/06\\\/17\\\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\\\/\",\"name\":\"High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2014\/06\/17\/high-risk-of-tobacco-related-cancers-in-cdkn2a-mutation-positive-melanoma-families\/","og_locale":"en_US","og_type":"article","og_title":"High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families (Contributed by Dr Hildur Helgadottir) - JMG Contact blog","og_description":"In this study we have investigated cancer risks in members of Swedish melanoma-prone families with an inherited mutation in the tumor suppressor gene CDKN2A. 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