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[针对高癌症风险家庭的遗传咨询]

[Genetic counseling for families at high cancer risk].

作者信息

Sagi M, Heching N, Kadouri L, Abeliovich D, Zlotogora J, Bach G, Peretz T

机构信息

Dept. of Human Genetics, Hadassah--Hebrew University Hospital, Jerusalem.

出版信息

Harefuah. 1996 Apr 1;130(7):441-6, 504.

PMID:8707209
Abstract

About 5-10% of the most common cancers, such as breast, colon and melanoma, result from mutations in inherited predisposition genes. Recently some of these genes have been mapped or even cloned. These advances in cancer genetics have made more precise genetic counseling possible for cancer patients and their families. In our clinic for specific genetic counseling 180 families with a history of cancer were seen during a 10-month period. In counseling sessions, the family history was confirmed and interpreted, personal risk was estimated and the availability of molecular genetic testing was presented. Blood samples for DNA testing were drawn from those with certain criteria who wished to be tested. Instructions for early detection were also given, depending on the personal risk of cancer as compared to that of the general population.

摘要

约5%至10%的常见癌症,如乳腺癌、结肠癌和黑色素瘤,是由遗传性易感基因突变引起的。最近,其中一些基因已被定位甚至克隆。癌症遗传学的这些进展使为癌症患者及其家属提供更精确的遗传咨询成为可能。在我们的特定遗传咨询诊所,在10个月的时间里接待了180个有癌症病史的家庭。在咨询过程中,确认并解读了家族病史,评估了个人风险,并介绍了分子基因检测的可行性。从符合某些标准且希望接受检测的人身上采集了用于DNA检测的血样。还根据与一般人群相比的个人癌症风险,给出了早期检测的指导。

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