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家族性腺瘤性息肉病的基因检测与遗传咨询

Genetic testing and counseling in familial adenomatous polyposis.

作者信息

Petersen G M

机构信息

Department of Epidemiology, Johns Hopkins School of Hygiene and Public Health, Baltimore, Maryland, USA.

出版信息

Oncology (Williston Park). 1996 Jan;10(1):89-94; discussion 97-8.

PMID:8924369
Abstract

Testing for adenomatous polyposis coli (APC), the gene responsible for familial adenomatous polyposis (FAP), can now be offered to family members in FAP kindreds. With the availability of this test, genetic counseling has become a crucial tool for helping FAP patients and their relatives understand the syndrome and its implications and for assisting at-risk individuals in making informed decisions about whether or not to undergo genetic testing. Genetic counseling can occur at several time points: when FAP is diagnosed, when an FAP patient is considering reproductive options, when a patient is deciding whether to have his or her children screened, and when an at-risk person is considering genetic testing. Based on our experiences from working with families in a large FAP registry, we explore the different issues that emerge in each of these settings, and how the genetic counselor or clinician can help FAP patients, family members, and at-risk persons deal with these issues.

摘要

针对家族性腺瘤性息肉病(FAP)的致病基因——腺瘤性息肉病 coli(APC)进行检测,如今已可提供给FAP家族中的成员。随着这项检测的出现,遗传咨询已成为一项关键工具,可帮助FAP患者及其亲属了解该综合征及其影响,并协助高危个体就是否接受基因检测做出明智决策。遗传咨询可在多个时间点进行:FAP被诊断时、FAP患者考虑生育选择时、患者决定是否让其子女接受筛查时,以及高危个体考虑基因检测时。基于我们在一个大型FAP登记处与家庭合作的经验,我们探讨了在上述每种情况下出现的不同问题,以及遗传咨询师或临床医生如何帮助FAP患者、家庭成员和高危个体应对这些问题。

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