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前列腺癌的胚系检测与遗传咨询。

Germline testing and genetic counselling in prostate cancer.

机构信息

Cancer Risk Assessment and Clinical Cancer Genetics, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA.

Departments of Medical Oncology, Cancer Biology, and Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA.

出版信息

Nat Rev Urol. 2022 Jun;19(6):331-343. doi: 10.1038/s41585-022-00580-7. Epub 2022 Apr 21.

Abstract

Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by precision medicine. Rates of germline pathogenic variants have been reported in up to 15% of men with prostate cancer, particularly in metastatic disease, and results of genetic testing could uncover options for precision therapy along with a spectrum of hereditary cancer-predisposition syndromes with unique clinical features that have complex management options. Thus, the pre-test discussion, whether delivered by genetic counsellors or by health-care professionals in hybrid models, involves information on hereditary cancer risk, extent of gene testing, purpose of testing, medical history and family history, potential types of results, additional cancer risks that might be uncovered, genetically based management and effect on families. Understanding precision medicine, personalized cancer risk management and syndrome-related cancer risk management is important in order to develop collaborative strategies with genetic counselling for optimal care of patients and their families.

摘要

前列腺癌的基因检测发展迅速,越来越受到精准医学的推动。高达 15%的前列腺癌患者存在种系致病性变异,尤其是转移性疾病患者,基因检测结果可能揭示精准治疗的选择,以及一系列具有独特临床特征的遗传性癌症易感性综合征,这些综合征具有复杂的管理选择。因此,无论是遗传咨询师还是医疗保健专业人员以混合模式提供的检测前讨论都涉及遗传性癌症风险、基因检测的范围、检测目的、病史和家族史、潜在的结果类型、可能发现的其他癌症风险、基于基因的管理以及对家庭的影响。了解精准医学、个性化癌症风险管理和综合征相关癌症风险管理对于与遗传咨询合作制定最佳患者及其家属护理策略非常重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fa4/9022414/1123c989c2d5/41585_2022_580_Fig1_HTML.jpg

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