Familial adenomatous polyposis (FAP) is characterized by the presence of numerous adenomatous polyps in the colorectum, as well as an autosomal dominant mode of inheritance. This syndrome will inevitably lead to colorectal cancer when left untreated, and it is estimated that 1% of all colorectal cancer cases are due to it. Over the past 20 years molecular genetic studies on FAP patients have laid down the basis for the elucidation of the genetic phenomena that ultimately result in the development of colorectal cancer. Professor P. Meera Khan was one of the leading authorities in the world of molecular genetics of colorectal cancer in general and of FAP in particular. His scientific contributions from the pre-DNA era up to the recent implementation of molecular genetic research in daily clinical practice have helped revolutionize our approach and management of FAP patients and their relatives.

译文

家族性腺瘤性息肉病 (FAP) 的特征是结直肠中存在大量腺瘤性息肉,以及常染色体显性遗传模式。如果不治疗,这种综合征不可避免地会导致大肠癌,据估计,所有大肠癌病例中有1% 是由它引起的。在过去的20年中,对FAP患者的分子遗传学研究为阐明最终导致结直肠癌发展的遗传现象奠定了基础。P. Meera Khan教授是大肠癌分子遗传学领域的主要权威之一,尤其是FAP。从DNA前时代到分子遗传学研究在日常临床实践中的最新实施,他的科学贡献帮助彻底改变了我们对FAP患者及其亲属的方法和管理。

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