Lynch H T, Smyrk T C
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, NE 68178, USA.
Semin Oncol. 1999 Oct;26(5):478-84.
The question, "Is cancer hereditary?" has been answered beyond any doubt through the discovery of germ-line cancer-causing mutations in a subset of colorectal cancers (CRCs). Clearly, this authentication of the role of genetics was not solely dependent on molecular genetic studies, since hereditary cancer syndromes such as familial adenomatous polyposis (FAP) had been known for at least 100 years, but molecular advances are clarifying and refining clinical impressions. Have clinicians acted on the importance of hereditary factors in cancer so that this knowledge might be translated into patient benefit? Data showing that 59% of patients with FAP still die of metastatic CRC suggest that the answer is no.
“癌症会遗传吗?”这个问题已经通过在一部分结直肠癌(CRC)中发现生殖系致癌突变而得到了毫无疑问的答案。显然,这种对遗传学作用的认定并非仅仅依赖于分子遗传学研究,因为诸如家族性腺瘤性息肉病(FAP)等遗传性癌症综合征至少已经被知晓100年了,但分子学进展正在澄清并完善临床认知。临床医生是否已经基于遗传性因素在癌症中的重要性采取行动,以便将这些知识转化为患者的益处呢?数据显示,59%的FAP患者仍死于转移性结直肠癌,这表明答案是否定的。