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Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families

✍ Scribed by G. Isidro; S. Matos; V. Gonçalves; C. Cavaleiro; O. Antunes; C. Marinho; J. Soares; M.G. Boavida

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
31 KB
Volume
22
Category
Article
ISSN
1059-7794

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✦ Synopsis

Mismatch repair genes MSH2 and MLH1 are the two major genes implicated in hereditary nonpolyposis colorectal cancer. For the past years, we have successfully searched for mutations in both genes in affected Portuguese families, by SSCP and DNA sequencing analysis but because of the advantages that DHPLC offers, we have established conditions in our laboratory to use this new method. While screening for mutations by both methods, in 35 individuals belonging to H NPCC Portuguese families, 4 novel MLH1 mutations (c.307-1G>C; c.1023delG [p.R341fsX366]; c.2154_2155delCA [p.H718fsX721], c.2154_2155dupCA [p.I719fsX782]), an unclassified variant (c.-28A>T) and one silent MSH2 polymorphism (c.2766T>C) have been identified.

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