{"id":993,"date":"2017-05-10T18:14:03","date_gmt":"2017-05-10T18:14:03","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=993"},"modified":"2026-02-24T21:06:43","modified_gmt":"2026-02-24T21:06:43","slug":"the-brca1-c-5096ga-p-arg1699gln-r1699q-intermediate-risk-variant-breast-and-ovarian-cancer-risk-estimation-and-recommendations-for-clinical-management-from-the-enigma-consortium","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/05\/10\/the-brca1-c-5096ga-p-arg1699gln-r1699q-intermediate-risk-variant-breast-and-ovarian-cancer-risk-estimation-and-recommendations-for-clinical-management-from-the-enigma-consortium\/","title":{"rendered":"The BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium (Contributed by Mrs. Setareh Moghadasi and Dr. E. Gomez Garcia)"},"content":{"rendered":"

Mutations in\u00a0BRCA1<\/em>\u00a0confer high life-time risks for breast cancer (BC): 68% and ovarian cancer (OC): 39%.\u00a0Our paper describes the cancer risks associated with the missense\u00a0mutation\u00a0BRCA1<\/em>*R1699Q in a large group of families ascertained internationally. Results show that the risks associated with this mutation, BC 20%\u00a0\u00a0and OC 6%, are lower than for the average\u00a0BRCA1<\/em> mutations. Based on these risks we proposed mutation-specific recommendations for clinical management. We also found that, as occurs with moderate risk genes, cancer risks in families with this intermediate risk mutation are likely to be influenced by additional genetic factors. (http:\/\/jmg.bmj.com\/content\/early\/2017\/05\/10\/jmedgenet-2017-104560<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Mutations in\u00a0BRCA1\u00a0confer high life-time risks for breast cancer (BC): 68% and ovarian cancer (OC): 39%.\u00a0Our paper describes the cancer risks associated with the missense\u00a0mutation\u00a0BRCA1*R1699Q in a large group of families ascertained internationally. Results show that the risks associated with this mutation, BC 20%\u00a0\u00a0and OC 6%, are lower than for the average\u00a0BRCA1 mutations. Based on these […]<\/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-993","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nThe BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium (Contributed by Mrs. Setareh Moghadasi and Dr. E. Gomez Garcia) - 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\/2017\/05\/10\/the-brca1-c-5096ga-p-arg1699gln-r1699q-intermediate-risk-variant-breast-and-ovarian-cancer-risk-estimation-and-recommendations-for-clinical-management-from-the-enigma-consortium\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium (Contributed by Mrs. Setareh Moghadasi and Dr. E. 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