Brewer D A, Bokey E L, Fung C, Chapuis P H
University of Sydney, Department of Colon and Rectal Surgery, Concord Hospital, New South Wales, Australia.
Aust N Z J Surg. 1993 Feb;63(2):87-94. doi: 10.1111/j.1445-2197.1993.tb00051.x.
It is estimated that the hereditary polyposis and non-polyposis colorectal cancer (CRC) syndromes, which have an autosomal dominant pattern of inheritance, represent less than 10% of the total CRC burden. Thus, more than 90% of all cases of CRC have previously been considered to arise 'sporadically', with no identifiable genetic link. However, recent clinical evidence now suggests that a significant proportion of CRC seen in the general population may involve an inherited genetic susceptibility. Therefore, constructing an accurate family tree on all patients with a family history of CRC is an essential part of identifying families with an increased risk for CRC who could then be offered screening. Also, molecular genetic study of colorectal adenomas and carcinomas has led to a proposed genetic model of colorectal tumorigenesis which involves interactions between oncogenes and tumour suppressor genes. This information has important potential implications for screening, determining prognosis and for providing multiple targets for altering the sequence of malignant transformation.
据估计，具有常染色体显性遗传模式的遗传性息肉病和非息肉病性结直肠癌（CRC）综合征占CRC总负担的比例不到10%。因此，此前超过90%的CRC病例被认为是“散发性”发生的，没有可识别的遗传联系。然而，最近的临床证据表明，普通人群中相当一部分CRC可能涉及遗传易感性。因此，为所有有CRC家族史的患者构建准确的家族树，是识别CRC风险增加的家族并为其提供筛查的重要环节。此外，对大肠腺瘤和癌的分子遗传学研究已经得出了一个关于结直肠癌发生的遗传模型，该模型涉及癌基因和肿瘤抑制基因之间的相互作用。这些信息对于筛查、判断预后以及为改变恶性转化序列提供多个靶点具有重要的潜在意义。
