{"id":1005,"date":"2017-07-28T19:18:40","date_gmt":"2017-07-28T19:18:40","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1005"},"modified":"2026-02-24T21:04:07","modified_gmt":"2026-02-24T21:04:07","slug":"a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/07\/28\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\/","title":{"rendered":"A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC)"},"content":{"rendered":"<p>Very few families with 9p21.3 deletion have been described. These families are at risk of developing melanoma and nerve sheath tumors.\u00a0 We report a family with several members affected by melanoma, astrocytoma, neurofibromas, and breast cancer. They have a 9p21.3 deletion containing 9 genes. While mutations within individual genes are associated with distinct hereditary cancer syndromes, we do not know what kinds of tumors can occur when several genes are missing. This complex case illustrates the need for healthcare providers trained in genetics to be involved in hereditary cancer testing, which is becoming increasingly utilized in various clinical settings. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/07\/27\/jmedgenet-2017-104690\">http:\/\/jmg.bmj.com\/content\/early\/2017\/07\/27\/jmedgenet-2017-104690<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1006\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28-300x131.jpg\" alt=\"\" width=\"300\" height=\"131\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28-300x131.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28-768x335.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28-1024x446.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28.jpg 1227w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Very few families with 9p21.3 deletion have been described. These families are at risk of developing melanoma and nerve sheath tumors.\u00a0 We report a family with several members affected by melanoma, astrocytoma, neurofibromas, and breast cancer. They have a 9p21.3 deletion containing 9 genes. While mutations within individual genes are associated with distinct hereditary cancer [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/07\/28\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\/\">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-1005","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>A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC) - 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\/2017\/07\/28\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Very few families with 9p21.3 deletion have been described. These families are at risk of developing melanoma and nerve sheath tumors.\u00a0 We report a family with several members affected by melanoma, astrocytoma, neurofibromas, and breast cancer. They have a 9p21.3 deletion containing 9 genes. While mutations within individual genes are associated with distinct hereditary cancer [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/07\/28\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-07-28T19:18:40+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:04:07+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/07\/July28.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1227\" \/>\n\t<meta property=\"og:image:height\" content=\"535\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC)\",\"datePublished\":\"2017-07-28T19:18:40+00:00\",\"dateModified\":\"2026-02-24T21:04:07+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/\"},\"wordCount\":134,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/07\\\/July28-300x131.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/07\\\/28\\\/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges\\\/\",\"name\":\"A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges (Contributed by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC) - 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