{"id":1797,"date":"2022-12-01T00:41:16","date_gmt":"2022-12-01T00:41:16","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1797"},"modified":"2026-02-23T00:26:26","modified_gmt":"2026-02-23T00:26:26","slug":"clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\/","title":{"rendered":"Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders (Contributed by Estela Carrasco)"},"content":{"rendered":"<p>In this work we analyzed the frequency, actionability and psychological impact of disclosing pathogenic variants in cancer susceptibility genes (CSG) as a secondary or incidental finding (SF\/IF) mainly in pediatric patients. In a total of 533 exomes examined for non-cancer indications, we found a pathogenic variant in a CSG as a SF\/IF in 2%. Around 80% of the families did not have a cancer family history. Among those eligible for cancer surveillance, we detected a tumour in 20% in the first set of investigations.Regarding the psychological impact, we found higher scores in the MICRA scale among carriers of a CSG as a SF\/IF compared to carriers of a CSG due to familial cancer history. Genetic counseling is key in individuals undergoing exome sequencing in order to cope with medical and psychological implications of their results (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/28\/jmg-2022-108929\">https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/28\/jmg-2022-108929<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\/img_20221122_150802\/\" rel=\"attachment wp-att-1798\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1798\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-300x280.jpg\" alt=\"\" width=\"300\" height=\"280\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-300x280.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-1024x956.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-768x717.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-1536x1433.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-2048x1911.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-640x597.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Estela Carrasco (the girl with brown trousers and boots) and some coathors<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In this work we analyzed the frequency, actionability and psychological impact of disclosing pathogenic variants in cancer susceptibility genes (CSG) as a secondary or incidental finding (SF\/IF) mainly in pediatric patients. In a total of 533 exomes examined for non-cancer indications, we found a pathogenic variant in a CSG as a SF\/IF in 2%. Around [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\/\">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-1797","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders (Contributed by Estela Carrasco) - 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\/2022\/12\/01\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders (Contributed by Estela Carrasco) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In this work we analyzed the frequency, actionability and psychological impact of disclosing pathogenic variants in cancer susceptibility genes (CSG) as a secondary or incidental finding (SF\/IF) mainly in pediatric patients. In a total of 533 exomes examined for non-cancer indications, we found a pathogenic variant in a CSG as a SF\/IF in 2%. Around [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-12-01T00:41:16+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:26:26+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/IMG_20221122_150802-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"2389\" \/>\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\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders (Contributed by Estela Carrasco)\",\"datePublished\":\"2022-12-01T00:41:16+00:00\",\"dateModified\":\"2026-02-23T00:26:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/\"},\"wordCount\":180,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/12\\\/IMG_20221122_150802-300x280.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/clinical-and-psychological-implications-of-secondary-and-incidental-findings-in-cancer-susceptibility-genes-after-exome-sequencing-in-patients-with-rare-disorders\\\/\",\"name\":\"Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders (Contributed by Estela Carrasco) - 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