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探索临终癌症患者中的遗传性癌症——一项关于遗传风险以及对DNA检测和储存的认知的横断面研究

Exploring hereditary cancer among dying cancer patients--a cross-sectional study of hereditary risk and perceived awareness of DNA testing and banking.

作者信息

Quillin John Martin, Bodurtha Joann N, Siminoff Laura A, Smith Thomas J

机构信息

Massey Cancer Center, Human & Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298-0033, USA.

出版信息

J Genet Couns. 2010 Oct;19(5):497-525. doi: 10.1007/s10897-010-9308-y. Epub 2010 Aug 3.

DOI:10.1007/s10897-010-9308-y
PMID:20680422
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4872714/
Abstract

Hereditary cancer assessment at the end of life is a relatively unexplored area, but it could be critical for surviving family members. This study explored the prevalence of hereditary cancer among dying cancer patients and assessed patients' perceived awareness of DNA testing and/or banking in a public access hospital. Palliative care patients with cancer from a single institution (or their medical-decision-making surrogates for patients unable to answer for themselves) completed structured interviews. Information was collected through medical records review and structured interviews for 43 dying cancer patients. Information for 9 patients was collected from surrogates. Nine patients (21%, 95% CI = 8.8% to 33.1%) had strong genetic risk. Currently available genetic tests could have addressed this risk for several patients. None had previous genetic counseling, testing or DNA banking. Among strong-risk patients, about half of patients/surrogates had heard/read "almost nothing" about genetic testing (44%) and DNA banking (67%). Perceived genetic awareness was not associated with genetic risk, and neither were sociodemographic characteristics. The proportion of hereditary cancer may be at least as high in the palliative care population as in other clinical settings, but awareness and uptake among patients are low. These conditions are not being recognized upstream and families are losing valuable information.

摘要

临终时的遗传性癌症评估是一个相对未被探索的领域,但对幸存的家庭成员可能至关重要。本研究探讨了临终癌症患者中遗传性癌症的患病率,并评估了公立医院患者对DNA检测和/或储存的认知情况。来自单一机构的癌症姑息治疗患者(或无法自行回答的患者的医疗决策代理人)完成了结构化访谈。通过病历审查和对43名临终癌症患者的结构化访谈收集信息。9名患者的信息由代理人提供。9名患者(21%,95%CI = 8.8%至33.1%)具有较高的遗传风险。目前可用的基因检测本可解决部分患者的这一风险。此前无人接受过遗传咨询、检测或DNA储存。在高风险患者中,约一半的患者/代理人对基因检测(44%)和DNA储存(67%)“几乎一无所知”。感知到的遗传认知与遗传风险无关,社会人口学特征也与之无关。姑息治疗人群中遗传性癌症的比例可能至少与其他临床环境一样高,但患者的认知和接受度较低。这些情况在早期未得到识别,家庭正在失去宝贵的信息。

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本文引用的文献

1
The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects.日本有乳腺癌或卵巢癌病史患者中遗传性乳腺癌/卵巢癌风险的患病率。
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Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population.在乳腺/卵巢癌遗传咨询筛查工具在乳腺 X 线摄影人群中的应用评估。
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Tolerance for ambiguity could influence awareness of breast cancer genetic testing and inform health education.对不确定性的容忍度可能会影响对乳腺癌基因检测的认知,并为健康教育提供信息。
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Genetics assessment at the end of life: suggestions for implementation in clinic and future research.临终时的遗传学评估:临床实施建议及未来研究方向
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Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women.四组女性中六种乳腺癌/卵巢癌家族史筛查方案的筛查阳性率。
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The impact of a cancer diagnosis on the health behaviors of cancer survivors and their family and friends.癌症诊断对癌症幸存者及其家人和朋友健康行为的影响。
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Screen-positive rates and agreement among six family history screening protocols for breast/ovarian cancer in a population-based cohort of 21- to 55-year-old women.在一个基于人群的21至55岁女性队列中,六种乳腺癌/卵巢癌家族史筛查方案的筛查阳性率及一致性。
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