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Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia

✍ Scribed by Zdena Bartosova; Ivana Fridrichova; Maria Bujalkova; Brigitte Wolf; Denisa Ilencikova; Peter Krizan; Peter Hlavcak; Julius Palaj; Ludovit Lukac; Margita Lukacova; Andrej Böör; Ritva Haider; Josef Jiricny; Minna Nyström-Lahti; Giancarlo Marra

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
37 KB
Volume
21
Category
Article
ISSN
1059-7794

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✦ Synopsis

Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly-inherited cancer predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and ovary is linked to germline mutations in DNA mismatch repair (MMR) genes. We have recently initiated a cancer prevention program in suspected HNPCC families in the Slovak Republic. The first ten families fulfilling Amsterdam criteria or Bethesda guidelines were screened for germline mutations in MLH1 and MSH2, two MMR genes most frequently mutated in HNPCC families. Six mutations were identified, five of which have not been reported previously. Two of the three new mutations in MLH1 (c.380+2T>A; c.307-2A>C) were absent from 100 chromosomes of healthy controls and probably cause a splicing defect, while the third was a 1 bp deletion (c.1261delA). In the MSH2 gene, one new nonsense (c.1030C>T [p.Q344X]) and one missense (c.524T>C [p.L175P]) mutation were identified. This latter variant was not found in 104 alleles of healthy control individuals. Moreover, a previously-reported pathogenic mutation (c.677G>T [p.R226L]) was found in one kindred. The clinical data and the genotypic and phenotypic evaluation of the tumors indicate that all the new alterations are pathogenic HNPCC mutations.

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