Genetic testing for inherited polyposis syndromes
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Polyposis syndromes are inherited intestinal cancer syndromes, but a causative genetic mutation cannot be identified in every family. Whether the diagnosis is clinical or genetic, relatives of a person with a diagnosis of polyposis need to be identified, traced, and warned about their risk. This article is not specifically about genetic counselling, but describes the important points to be remembered when discussing the genetic testing of patients with, or at the risk of, a polyposis syndrome.
[1] K. Neale,et al. Overview of Peutz-Jegher's and juvenile polyposis syndromes , 2014 .
[2] Peter Donnelly,et al. Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas , 2012, Nature Genetics.
[3] M. Parker,et al. Genetic information: a joint account? , 2004, BMJ : British Medical Journal.
[4] C. Dukes. Cancer control in familial polyposis of the colon , 1958, Diseases of the colon and rectum.