{"id":2038,"date":"2025-01-14T17:58:08","date_gmt":"2025-01-14T17:58:08","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2038"},"modified":"2026-02-22T01:20:25","modified_gmt":"2026-02-22T01:20:25","slug":"a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place\/","title":{"rendered":"A founder deletion involving BRCA1 in families of Nepalese origin: the perfect hiding place! (Contributed by Dr. Alistair T Pagnamenta)"},"content":{"rendered":"<p>Deletions and duplications involving the\u00a0<em>BRCA1<\/em>\u00a0gene can be found in a substantial proportion of families with inherited risk for breast and ovarian cancer. In this study, Pagnamenta\u00a0<em>et al<\/em>\u00a0identified two affected cousins from the 100,000 Genomes Project who shared a complex 178bp deletion in\u00a0<em>BRCA1<\/em>. Due to its size and location, the deletion had escaped detection using multiple testing protocols that had been employed previously. Interrogation of an online database indicated this rare variant was restricted to families with Nepalese origin. The study also highlights the importance of using consistent approaches for deciding how to describe complex variants. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/12\/11\/jmg-2024-110422\">https:\/\/jmg.bmj.com\/content\/early\/2024\/12\/11\/jmg-2024-110422<\/a> )<\/p>\n<p>&nbsp;<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Deletions and duplications involving the\u00a0BRCA1\u00a0gene can be found in a substantial proportion of families with inherited risk for breast and ovarian cancer. In this study, Pagnamenta\u00a0et al\u00a0identified two affected cousins from the 100,000 Genomes Project who shared a complex 178bp deletion in\u00a0BRCA1. Due to its size and location, the deletion had escaped detection using multiple [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place\/\">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-2038","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A founder deletion involving BRCA1 in families of Nepalese origin: the perfect hiding place! (Contributed by Dr. Alistair T Pagnamenta) - 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\/2025\/01\/14\/a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A founder deletion involving BRCA1 in families of Nepalese origin: the perfect hiding place! (Contributed by Dr. Alistair T Pagnamenta) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Deletions and duplications involving the\u00a0BRCA1\u00a0gene can be found in a substantial proportion of families with inherited risk for breast and ovarian cancer. In this study, Pagnamenta\u00a0et al\u00a0identified two affected cousins from the 100,000 Genomes Project who shared a complex 178bp deletion in\u00a0BRCA1. Due to its size and location, the deletion had escaped detection using multiple [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-01-14T17:58:08+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:20:25+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\\\/2025\\\/01\\\/14\\\/a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/a-founder-deletion-involving-brca1-in-families-of-nepalese-origin-the-perfect-hiding-place\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A founder deletion involving BRCA1 in families of Nepalese origin: the perfect hiding place! 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