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Ovarian cancer: identifying and managing familial and genetic risk—summary of new NICE guidance
The BMJ ( IF 105.7 ) Pub Date : 2024-05-09 , DOI: 10.1136/bmj.q807
Eric Slade , Laura Berg , Katharina Dworzynski , Ranjit Manchanda

### What you need to know In the UK, around 7500 women are diagnosed with ovarian cancer annually. Approximately 340 000 to 440 000 UK women carry a pathogenic variant in a high risk gene that increases their risk of developing the disease.1 However, only around 3% of people with a high risk gene know that they carry it.2 Most ovarian cancers associated with high risk genes are diagnosed at advanced stage, leading to poor clinical outcomes. Genetic testing can identify at-risk carriers, who can opt for preventive measures such as risk reducing surgery, which significantly lowers the risk of developing ovarian cancer.3 This article summarises new guidance by the National Institute for Health and Care Excellence (NICE) on identifying and managing familial and genetic risk of ovarian cancer.4 It covers select recommendations of relevance to those working in primary care and providers who refer to specialist services. Recommendations from this guideline are for anyone who has an increased probability …

中文翻译:

卵巢癌:识别和管理家族和遗传风险——新 NICE 指南摘要

### 您需要了解的内容在英国,每年约有 7500 名女性被诊断患有卵巢癌。大约 340 000 至 440 000 名英国女性携带高危基因的致病性变异,这会增加她们罹患该疾病的风险。1 然而,只有约 3% 的携带高危基因的人知道自己携带该基因。2 大多数卵巢癌与高危基因相关的疾病在晚期才被诊断出来,导致临床结果不佳。基因检测可以识别高风险携带者,他们可以选择预防措施,例如降低风险的手术,从而显着降低患卵巢癌的风险。3本文总结了美国国家健康与护理卓越研究所 (NICE) 的新指南识别和管理卵巢癌的家族和遗传风险。4它涵盖了与初级保健工作人员和转介专业服务的提供者相关的精选建议。本指南的建议适用于任何有可能增加的人……
更新日期:2024-05-09
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