{"id":1487,"date":"2020-06-24T16:41:09","date_gmt":"2020-06-24T16:41:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1487"},"modified":"2026-02-23T23:56:39","modified_gmt":"2026-02-23T23:56:39","slug":"co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\/","title":{"rendered":"Co-occurrence of germline BRCA1 and CDH1 pathogenic variants (Contributed by Marie-Charlotte Villy)"},"content":{"rendered":"

We report the case of a 91-year-old woman diagnosed with breast cancer at the age of 52. She had a family history of breast and gastric cancers. A genetic predisposition to cancer was suspected. Surprisingly, we found not one but two genetic predispositions to cancer in the family, with alterations in both BRCA1<\/em> and CDH1<\/em> genes, known to cause respectively hereditary breast and ovarian cancers and hereditary diffuse gastric and breast cancers. Life expectancy, absence of ovarian cancer and low penetrance of diffuse gastric cancer in the family are remarkable. However, this complex situation is challenging for diagnosis, genetic counseling and medical management of at-risk individuals. (https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/23\/jmedgenet-2020-106972<\/a> )<\/p>\n

\"\"<\/a><\/p>\n

(On the top left is Dominique Stoppa-Lyonnet, on the bottom left is Chrystelle Colas, on the top right it is Marie-Charlotte Villy, and on the bottom right is Emmanuelle Fourme)<\/p>\n","protected":false},"excerpt":{"rendered":"

We report the case of a 91-year-old woman diagnosed with breast cancer at the age of 52. She had a family history of breast and gastric cancers. A genetic predisposition to cancer was suspected. Surprisingly, we found not one but two genetic predispositions to cancer in the family, with alterations in both BRCA1 and CDH1 […]<\/p>\n

Read More…<\/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-1487","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nCo-occurrence of germline BRCA1 and CDH1 pathogenic variants (Contributed by Marie-Charlotte Villy) - 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\/2020\/06\/24\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Co-occurrence of germline BRCA1 and CDH1 pathogenic variants (Contributed by Marie-Charlotte Villy) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We report the case of a 91-year-old woman diagnosed with breast cancer at the age of 52. She had a family history of breast and gastric cancers. A genetic predisposition to cancer was suspected. Surprisingly, we found not one but two genetic predispositions to cancer in the family, with alterations in both BRCA1 and CDH1 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-06-24T16:41:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:56:39+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Photo-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1200\" \/>\n\t<meta property=\"og:image:height\" content=\"1600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Co-occurrence of germline BRCA1 and CDH1 pathogenic variants (Contributed by Marie-Charlotte Villy)\",\"datePublished\":\"2020-06-24T16:41:09+00:00\",\"dateModified\":\"2026-02-23T23:56:39+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/\"},\"wordCount\":155,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/06\\\/Photo-2-225x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/co-occurrence-of-germline-brca1-and-cdh1-pathogenic-variants\\\/\",\"name\":\"Co-occurrence of germline BRCA1 and CDH1 pathogenic variants (Contributed by Marie-Charlotte Villy) - 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