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胚系基因检测与乳腺癌幸存者。

Germline and testing for breast cancer survivors.

机构信息

Cancer Genetics Unit, Royal Marsden Hospital NHS Trust, London, UK.

Breast Unit, Royal Marsden Hospital NHS Trust, London, UK.

出版信息

J Med Genet. 2020 Aug;57(8):528-530. doi: 10.1136/jmedgenet-2019-106420. Epub 2019 Sep 11.

Abstract

For patients with early breast cancer, knowledge of germline / status increasingly influences management as well as informing future cancer risk for patients and their families. As access to germline testing expands, it is important that this benefit is extended to survivors as well as to the newly diagnosed. In collaboration with our breast unit colleagues and by embedding a Senior Genetic Counsellor in the virtual multidisciplinary meeting, we identified patients suitable for genetics review 5 years after their breast cancer diagnosis. Between May 2015 and December 2018, 2044 patients were discussed, of whom 769 patients were identified for notes review by Genetics. Of these, 275 had already undergone testing and 47 had confirmed germline pathogenic variants in / A further 463 were recommended for referral. One hundred and eighty patients were subsequently offered testing with 161 accepting (161/180, 89%). Nine patients were found to harbour pathogenic variants in either or (9/161, 6%). Of the initial 2044 patients reviewed, 2.7% (56/2044) are now known to carry germline pathogenic variants. The survivorship setting provides an opportunity for genetic review underpinned by collaborative working between cancer specialists and the genetics team.

摘要

对于早期乳腺癌患者,种系/状态的知识越来越影响其管理,并为患者及其家属提供未来癌症风险的信息。随着种系检测的普及,不仅要为新诊断的患者,也要为幸存者提供这一益处,这一点非常重要。我们与乳腺科同事合作,并通过在虚拟多学科会议中嵌入一名资深遗传咨询师,确定了在乳腺癌诊断后 5 年内适合进行遗传咨询的患者。在 2015 年 5 月至 2018 年 12 月期间,共讨论了 2044 例患者,其中 769 例患者被认为需要进行遗传咨询。在这些患者中,有 275 例已经进行了检测,有 47 例确认存在种系致病性变异,还有 463 例建议转诊。随后有 180 例患者接受了检测,其中 161 例(161/180,89%)接受了检测。有 9 例患者携带或中的致病性变异(9/161,6%)。在最初接受审查的 2044 例患者中,现在已知有 2.7%(56/2044)携带种系致病性变异。生存者环境为遗传咨询提供了机会,这种咨询是基于癌症专家和遗传团队之间的合作。

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