{"id":2094,"date":"2025-08-14T13:35:19","date_gmt":"2025-08-14T13:35:19","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2094"},"modified":"2026-02-22T01:00:30","modified_gmt":"2026-02-22T01:00:30","slug":"exploration-of-possible-association-of-brip1-pathogenic-variants-with-central-nervous-system-cancers-in-an-institutional-cohort","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/14\/exploration-of-possible-association-of-brip1-pathogenic-variants-with-central-nervous-system-cancers-in-an-institutional-cohort\/","title":{"rendered":"Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort (Contributed by Jackie Cappadocia, MS, LCGC)"},"content":{"rendered":"

Our study examines a potential link between BRIP1 pathogenic germline variants (PGVs) and central nervous system (CNS) tumors through a retrospective review of institutional germline and somatic databases. We found that 16.3% of families with BRIP1 PGVs reported CNS tumors. Somatic BRIP1 variants were rare in CNS tumors, but one of two individuals subsequently germline tested, was confirmed to carry a germline BRIP1 PGV. Although current data are insufficient to confirm or refute an association, documenting clinical and pathological features of CNS tumors in BRIP1 carriers and families is essential for future research exploring a possible connection. (https:\/\/jmg.bmj.com\/content\/early\/2025\/08\/07\/jmg-2025-110764<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Our study examines a potential link between BRIP1 pathogenic germline variants (PGVs) and central nervous system (CNS) tumors through a retrospective review of institutional germline and somatic databases. We found that 16.3% of families with BRIP1 PGVs reported CNS tumors. Somatic BRIP1 variants were rare in CNS tumors, but one of two individuals subsequently germline […]<\/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-2094","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nExploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort (Contributed by Jackie Cappadocia, MS, LCGC) - 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\/08\/14\/exploration-of-possible-association-of-brip1-pathogenic-variants-with-central-nervous-system-cancers-in-an-institutional-cohort\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort (Contributed by Jackie Cappadocia, MS, LCGC) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Our study examines a potential link between BRIP1 pathogenic germline variants (PGVs) and central nervous system (CNS) tumors through a retrospective review of institutional germline and somatic databases. 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