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Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.多基因风险评分与携带高风险和中风险乳腺癌基因的女性乳腺癌的相关性研究。
JAMA Netw Open. 2020 Jul 1;3(7):e208501. doi: 10.1001/jamanetworkopen.2020.8501.
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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.英国癌症变异体解读专家组(CanVIG-UK):一个典范的国家级多学科专业网络。
J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13.
4
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.在常规 NGS 诊断中无法检测到 MLH1、MSH2 和 PMS2 中 CNV 中性结构基因组重排的流行率。
Fam Cancer. 2020 Apr;19(2):161-167. doi: 10.1007/s10689-020-00159-4.
5
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.基于人群的 BRCA 检测在阿什肯纳兹犹太人中的随机试验:长期结果。
BJOG. 2020 Feb;127(3):364-375. doi: 10.1111/1471-0528.15905. Epub 2019 Sep 10.
6
Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature.心理方面、与 BRCA 基因检测相关的风险和保护因素:文献综述。
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7
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.利用基因组合分析遗传性癌症综合征:新的和多种致病性突变。
BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.
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Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.遗传性心脏病理不确定性管理:一项国际多学科调查。
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Should All Individuals Be Screened for Genetic Predisposition to Cancer?

作者信息

Wedderburn Sarah, McVeigh Terri P

机构信息

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.

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

出版信息

Genet Res (Camb). 2021 Jan 9;2021:6611963. doi: 10.1155/2021/6611963. eCollection 2021.

DOI:10.1155/2021/6611963
PMID:33762893
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7953527/
Abstract
摘要