{"id":1953,"date":"2024-04-12T21:18:43","date_gmt":"2024-04-12T21:18:43","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1953"},"modified":"2026-02-22T23:15:51","modified_gmt":"2026-02-22T23:15:51","slug":"pathogenic-variant-detection-rate-varies-considerably-in-male-breast-cancer-families-and-sporadic-cases-minimal-additional-contribution-beyond-brca2-brca1-and-chek2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/04\/12\/pathogenic-variant-detection-rate-varies-considerably-in-male-breast-cancer-families-and-sporadic-cases-minimal-additional-contribution-beyond-brca2-brca1-and-chek2\/","title":{"rendered":"Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 (Contributed by Professor Evans Gareth)"},"content":{"rendered":"<p>Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying cause from high and moderate risk gene pathogenic variants (PV) than female breast cancer, particularly in <em>BRCA2. <\/em>However, most studies only report overall detection rates without assessing detailed family history. We reviewed genetic testing in 204 families including at least one MBC <em>BRCA2<\/em> was the major contributor with 51 (25%) having PVs, followed by<em> BRCA1<\/em> and<em> CHEK2<\/em> with five each (2.45%), but no additional PVs identified, including in families even high genetic likelihood on Manchester scoring in the additional genes tested. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/04\/12\/jmg-2023-109826\">https:\/\/jmg.bmj.com\/content\/early\/2024\/04\/12\/jmg-2023-109826<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying cause from high and moderate risk gene pathogenic variants (PV) than female breast cancer, particularly in BRCA2. However, most studies only report overall detection rates without assessing detailed family history. We reviewed genetic testing in 204 families [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/04\/12\/pathogenic-variant-detection-rate-varies-considerably-in-male-breast-cancer-families-and-sporadic-cases-minimal-additional-contribution-beyond-brca2-brca1-and-chek2\/\">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-1953","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>Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 (Contributed by Professor Evans Gareth) - 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\/2024\/04\/12\/pathogenic-variant-detection-rate-varies-considerably-in-male-breast-cancer-families-and-sporadic-cases-minimal-additional-contribution-beyond-brca2-brca1-and-chek2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 (Contributed by Professor Evans Gareth) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying cause from high and moderate risk gene pathogenic variants (PV) than female breast cancer, particularly in BRCA2. However, most studies only report overall detection rates without assessing detailed family history. 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