{"id":1831,"date":"2023-03-01T17:04:46","date_gmt":"2023-03-01T17:04:46","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1831"},"modified":"2026-02-23T00:18:18","modified_gmt":"2026-02-23T00:18:18","slug":"update-of-penetrance-estimates-in-birt-hogg-dube-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/03\/01\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\/","title":{"rendered":"Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma)"},"content":{"rendered":"<p>Birt-Hogg-Dub\u00e9 syndrome (BHD) is a rare genetic disorder associated with lung cysts, collapsed lungs, skin lesions, and an increased risk of both benign and malignant renal tumours.\u00a0 In addition to the accepted phenotypic presentation of BHD, it has been suggested that colonic polyps may also be associated with BHD syndrome. This analysis provides more precise estimates of the proportion of people carrying the gene change who show each symptom using a pooled analysis of a significant proportion of the world\u2019s published and unpublished BHD families. By age 70 over 8 out of 10 people who carry the genetic changes responsible for BHD will have skin lesions and had a diagnosis of lung cysts or collapsed lungs. The risks of renal cancer and colonic polyps by age 70 years were lower, at a one-in-five risk. The findings did not support adding colonic polyps to the list of accepted manifestations.\u00a0 As skin and lung symptoms often appear before renal cancer, there is a need to increase the awareness of BHD syndrome and its possible presentations. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/02\/27\/jmg-2022-109104\">https:\/\/jmg.bmj.com\/content\/early\/2023\/02\/27\/jmg-2022-109104<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Birt-Hogg-Dub\u00e9 syndrome (BHD) is a rare genetic disorder associated with lung cysts, collapsed lungs, skin lesions, and an increased risk of both benign and malignant renal tumours.\u00a0 In addition to the accepted phenotypic presentation of BHD, it has been suggested that colonic polyps may also be associated with BHD syndrome. This analysis provides more precise [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/03\/01\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\/\">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-1831","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>Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma) - 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\/03\/01\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Birt-Hogg-Dub\u00e9 syndrome (BHD) is a rare genetic disorder associated with lung cysts, collapsed lungs, skin lesions, and an increased risk of both benign and malignant renal tumours.\u00a0 In addition to the accepted phenotypic presentation of BHD, it has been suggested that colonic polyps may also be associated with BHD syndrome. This analysis provides more precise [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/03\/01\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-03-01T17:04:46+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:18:18+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\\\/03\\\/01\\\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/03\\\/01\\\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma)\",\"datePublished\":\"2023-03-01T17:04:46+00:00\",\"dateModified\":\"2026-02-23T00:18:18+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/03\\\/01\\\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\\\/\"},\"wordCount\":191,\"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\\\/03\\\/01\\\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/03\\\/01\\\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/03\\\/01\\\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\\\/\",\"name\":\"Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2023\/03\/01\/update-of-penetrance-estimates-in-birt-hogg-dube-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"Update of penetrance estimates in Birt-Hogg-Dub\u00e9 syndrome (Contributed by Dr Fiona Jane Bruinsma) - JMG Contact blog","og_description":"Birt-Hogg-Dub\u00e9 syndrome (BHD) is a rare genetic disorder associated with lung cysts, collapsed lungs, skin lesions, and an increased risk of both benign and malignant renal tumours.\u00a0 In addition to the accepted phenotypic presentation of BHD, it has been suggested that colonic polyps may also be associated with BHD syndrome. 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