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前列腺癌的临床遗传学

The clinical genetics of prostate cancer.

作者信息

Kommu Sashi, Edwards Stephen, Eeles Rosalind

机构信息

Reader in Clinical Cancer Genetics, Translational Cancer Genetics Team, Institute of Cancer Research, Sutton, UK.

出版信息

Hered Cancer Clin Pract. 2004 Jul 15;2(3):111-21. doi: 10.1186/1897-4287-2-3-111.

Abstract

Prostate cancer is the most common cancer in men and the second highest cause of cancer-related mortality in the U.K. A genetic component in predisposition to prostate cancer has been recognized for decades. One of the strongest epidemiological risk factors for prostate cancer is a positive family history. The hunt for the genes that predispose to prostate cancer in families has been the focus of many research groups worldwide for the past 10 years. Both epidemiological and twin studies support a role for genetic predisposition to prostate cancer. Familial cancer loci have been found, but the genes that cause familial prostate cancer remain largely elusive. Unravelling the genetics of prostate cancer is challenging and is likely to involve the analysis of numerous predisposition genes. Current evidence supports the hypothesis that excess familial risk of prostate cancer could be due to the inheritance of multiple moderate-risk genetic variants. Although research on hereditary prostate cancer has improved our knowledge of the genetic aetiology of the disease, a lot of questions still remain unanswered.This article explores the current evidence that there is a genetic component to the aetiology of prostate cancer and attempts to put into context the diverse findings that have been shown to be possibly associated with the development of hereditary prostate cancer. Linkage searches over the last decade are summarised. It explores issues as to why understanding the genetics of prostate cancer has been so difficult and why despite this, it is still a major focus of research. Finally, current and future management strategies of men with Hereditary Prostate Cancer (HPC) are discussed.

摘要

前列腺癌是男性中最常见的癌症,在英国是癌症相关死亡率的第二大原因。几十年来,人们已经认识到前列腺癌易感性中的遗传成分。前列腺癌最强的流行病学风险因素之一是家族史阳性。在过去10年里,寻找家族性前列腺癌易感基因一直是全球许多研究小组的重点。流行病学和双胞胎研究都支持遗传易感性在前列腺癌发病中的作用。已经发现了家族性癌症位点,但导致家族性前列腺癌的基因在很大程度上仍然难以捉摸。解开前列腺癌的遗传学奥秘具有挑战性,可能需要分析众多的易感基因。目前的证据支持这样一种假设,即前列腺癌家族性风险增加可能是由于多个中度风险遗传变异的遗传。尽管对遗传性前列腺癌的研究增进了我们对该疾病遗传病因的了解,但许多问题仍未得到解答。本文探讨了目前关于前列腺癌病因存在遗传成分的证据,并试图将已被证明可能与遗传性前列腺癌发生相关的各种研究结果放在一起进行分析。总结了过去十年的连锁研究。探讨了为什么理解前列腺癌遗传学如此困难以及尽管如此它仍然是研究重点的相关问题。最后,讨论了遗传性前列腺癌(HPC)男性患者当前和未来的管理策略。

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