{"id":1211,"date":"2018-11-24T21:33:26","date_gmt":"2018-11-24T21:33:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1211"},"modified":"2026-02-24T15:31:56","modified_gmt":"2026-02-24T15:31:56","slug":"screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/24\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\/","title":{"rendered":"Screening of BRCA1\/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast\/ovarian cancer (Contributed by Gemma Montalban)"},"content":{"rendered":"

Pathogenic germline variants in BRCA1 and BRCA2 genes confer increased breast\/ovarian cancer (BC\/OC) risks.<\/p>\n

The identification of deleterious BRCA1\/2 genetic variants in BC\/OC families guides the enrollment of carriers in medical surveillance and cancer prevention programs and informs treatment decisions by more precisely targeted cancer therapies.<\/p>\n

BRCA1\/2 genetic analysis commonly includes only coding regions. However, no deleterious variant is identified in a significant fraction of families. We have studied the intronic regions of these genes to identify pathogenic variants that would be undetected during conventional testing. We describe the first BRCA1 deep intronic variant linked to pathogenicity by disrupting splicing and promoting the inclusion of a pseudoexon. Our results support the application of whole-gene sequencing in the clinical setting in order to identify variants that could explain the missing heritability. (https:\/\/jmg.bmj.com\/content\/early\/2018\/11\/24\/jmedgenet-2018-105606<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Pathogenic germline variants in BRCA1 and BRCA2 genes confer increased breast\/ovarian cancer (BC\/OC) risks. The identification of deleterious BRCA1\/2 genetic variants in BC\/OC families guides the enrollment of carriers in medical surveillance and cancer prevention programs and informs treatment decisions by more precisely targeted cancer therapies. BRCA1\/2 genetic analysis commonly includes only coding regions. However, […]<\/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-1211","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nScreening of BRCA1\/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast\/ovarian cancer (Contributed by Gemma Montalban) - 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\/2018\/11\/24\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Screening of BRCA1\/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast\/ovarian cancer (Contributed by Gemma Montalban) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pathogenic germline variants in BRCA1 and BRCA2 genes confer increased breast\/ovarian cancer (BC\/OC) risks. The identification of deleterious BRCA1\/2 genetic variants in BC\/OC families guides the enrollment of carriers in medical surveillance and cancer prevention programs and informs treatment decisions by more precisely targeted cancer therapies. BRCA1\/2 genetic analysis commonly includes only coding regions. However, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/24\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-11-24T21:33:26+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:31:56+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\\\/2018\\\/11\\\/24\\\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/24\\\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Screening of BRCA1\\\/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast\\\/ovarian cancer (Contributed by Gemma Montalban)\",\"datePublished\":\"2018-11-24T21:33:26+00:00\",\"dateModified\":\"2026-02-24T15:31:56+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/24\\\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\\\/\"},\"wordCount\":171,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/24\\\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/24\\\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/24\\\/screening-of-brca1-2-deep-intronic-regions-by-targeted-gene-sequencing-identifies-the-first-germline-brca1-variant-causing-pseudoexon-activation-in-a-patient-with-breast-ovarian-cancer\\\/\",\"name\":\"Screening of BRCA1\\\/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast\\\/ovarian cancer (Contributed by Gemma Montalban) - 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