{"id":1619,"date":"2021-04-05T14:09:55","date_gmt":"2021-04-05T14:09:55","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1619"},"modified":"2026-02-23T22:59:38","modified_gmt":"2026-02-23T22:59:38","slug":"characterisation-of-protein-truncating-and-missense-variants-in-palb2-in-15-768-women-from-malaysia-and-singapore","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/05\/characterisation-of-protein-truncating-and-missense-variants-in-palb2-in-15-768-women-from-malaysia-and-singapore\/","title":{"rendered":"Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore (Contributed by Professor Datin Paduka and Dr Teo Soo Hwang)"},"content":{"rendered":"<p>Pathogenic variants in\u00a0<em>PALB2\u00a0<\/em>is associated with an\u00a0increased risk of breast, ovarian and pancreatic cancer. In our case-control study of more than 15,000 women from two multi-ethnic South East Asian populations (Malaysia and Singapore), we found that\u00a0<em>PALB2\u00a0<\/em>carriers\u00a0have a 5 fold increased risk of breast cancer compared to healthy individuals. Notably, many of the variants identified in this understudied population are novel and our functional analyses of rare missense variants indicate that only a minority are associated with an increased risk to breast cancer. \u00a0Together, this study adds to the evidence base that\u00a0<em>PALB2\u00a0<\/em>is clinically relevant across diverse populations. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/01\/jmedgenet-2020-107471\">https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/01\/jmedgenet-2020-107471<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/05\/characterisation-of-protein-truncating-and-missense-variants-in-palb2-in-15-768-women-from-malaysia-and-singapore\/img_9120\/\" rel=\"attachment wp-att-1620\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1620\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-300x215.jpg\" alt=\"\" width=\"300\" height=\"215\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-300x215.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-1024x733.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-768x550.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-1536x1100.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-2048x1467.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/04\/IMG_9120-640x458.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pathogenic variants in\u00a0PALB2\u00a0is associated with an\u00a0increased risk of breast, ovarian and pancreatic cancer. In our case-control study of more than 15,000 women from two multi-ethnic South East Asian populations (Malaysia and Singapore), we found that\u00a0PALB2\u00a0carriers\u00a0have a 5 fold increased risk of breast cancer compared to healthy individuals. Notably, many of the variants identified in this [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/05\/characterisation-of-protein-truncating-and-missense-variants-in-palb2-in-15-768-women-from-malaysia-and-singapore\/\">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-1619","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>Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore (Contributed by Professor Datin Paduka and Dr Teo Soo Hwang) - 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\/2021\/04\/05\/characterisation-of-protein-truncating-and-missense-variants-in-palb2-in-15-768-women-from-malaysia-and-singapore\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore (Contributed by Professor Datin Paduka and Dr Teo Soo Hwang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pathogenic variants in\u00a0PALB2\u00a0is associated with an\u00a0increased risk of breast, ovarian and pancreatic cancer. In our case-control study of more than 15,000 women from two multi-ethnic South East Asian populations (Malaysia and Singapore), we found that\u00a0PALB2\u00a0carriers\u00a0have a 5 fold increased risk of breast cancer compared to healthy individuals. 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