{"id":1920,"date":"2023-12-17T14:52:24","date_gmt":"2023-12-17T14:52:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1920"},"modified":"2026-02-22T23:47:31","modified_gmt":"2026-02-22T23:47:31","slug":"germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\/","title":{"rendered":"Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400 (Contributed by Emma R Woodward)"},"content":{"rendered":"<p>Alterations of certain genes may place women at increased risk of developing a subtype of breast cancer not expressing hormone receptors, triple negative breast cancer (TNBC). We undertook a review of the gene alterations seen in women in Manchester with TNBC and showed there is an increased risk of developing TNBC where there is an alteration of the BRCA1, BRCA2, PALB2, or RAD51D genes, but not with alterations of the CHEK2 or ATM genes. This knowledge will help in treatment and cancer prevention\/early detection strategies for women with an alteration in one of these genes. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/12\/16\/jmg-2023-109671\">https:\/\/jmg.bmj.com\/content\/early\/2023\/12\/16\/jmg-2023-109671<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Alterations of certain genes may place women at increased risk of developing a subtype of breast cancer not expressing hormone receptors, triple negative breast cancer (TNBC). We undertook a review of the gene alterations seen in women in Manchester with TNBC and showed there is an increased risk of developing TNBC where there is an [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\/\">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-1920","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>Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400 (Contributed by Emma R Woodward) - 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\/2023\/12\/17\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400 (Contributed by Emma R Woodward) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Alterations of certain genes may place women at increased risk of developing a subtype of breast cancer not expressing hormone receptors, triple negative breast cancer (TNBC). We undertook a review of the gene alterations seen in women in Manchester with TNBC and showed there is an increased risk of developing TNBC where there is an [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/12\/17\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-12-17T14:52:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:47:31+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\\\/2023\\\/12\\\/17\\\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/12\\\/17\\\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400 (Contributed by Emma R Woodward)\",\"datePublished\":\"2023-12-17T14:52:24+00:00\",\"dateModified\":\"2026-02-22T23:47:31+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/12\\\/17\\\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\\\/\"},\"wordCount\":144,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/12\\\/17\\\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/12\\\/17\\\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/12\\\/17\\\/germline-testing-of-brca1-brca2-palb2-and-chek2-c-1100delc-in-1514-triple-negative-familial-and-isolated-breast-cancers-from-a-single-centre-with-extended-testing-of-atm-rad51c-and-rad51d-in-over\\\/\",\"name\":\"Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400 (Contributed by Emma R Woodward) - 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