Prehled molekulární genetiky Lynchova syndromu
[Review of the molecular genetics of the Lynch syndrome]

. 1998 Mar ; 47 (1) : 4-12.

Jazyk čeština Země Česko Médium print

Typ dokumentu anglický abstrakt, časopisecké články, práce podpořená grantem, přehledy

Perzistentní odkaz   https://www.medvik.cz/link/pmid09650415
Odkazy

PubMed 9650415

The molecular genetics of the hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is reviewed. Recently, four genes (hMSH2, hMLH1, hPMS1, hPMS2) whose mutations are related to HNPCC were discovered. The products of these genes are homologues of the bacterial mismatch repair (MMR) system proteins MutS and MutL. Dysfunction of MMR system both in bacterial and human cells leads to the microsatellite instability (MI) in repetitive sequences of DNA. These sequences are also present in some tumor suppressor genes (e.g. TGF-beta RII or BAX). Therefore, the MI probably leads to the impairment of the cell cycle regulation and a carcinoma can develop from the clone of such cells with nonregulated growth.

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...