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Familial Cancer
Published in: Familial Cancer 4/2009

01-12-2009

A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

Authors: Cristina Martínez-Bouzas, Elena Beristain, Enrique Ojembarrena, Jose Errasti, Karmele Mujika, Noelia Viguera, Maria Isabel Tejada

Published in: Familial Cancer | Issue 4/2009

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Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome underlies between 2 and 5% of all colorectal cancer. It is inherited as an autosomal dominant condition due to mutations in the mismatch repair genes. Fifty-four non-related index cases, 21 of them fulfilling Amsterdam criteria I or II, were studied. Ten (10/21 = 47.6%) different pathological mutations were found in this group, two of which had not previously been reported—one in MLH1 and the other in MSH2-. In the remaining patients, we also found another family with one of these new mutations, and four additional changes, two of which were also new—a pathological change in MSH2 and a second change of uncertain significance in MLH1-, while the other two changes had already been reported. Of all mutations, eight were found in MSH2 (8/15 = 53.3%) and seven in MLH1 (7/15 = 46.6%), suggesting a slightly greater involvement of MSH2 in HNPCC than MLH1 in our population, in contrast to the results reported by other authors.
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Metadata
Title
A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations
Authors
Cristina Martínez-Bouzas
Elena Beristain
Enrique Ojembarrena
Jose Errasti
Karmele Mujika
Noelia Viguera
Maria Isabel Tejada
Publication date
01-12-2009
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 4/2009
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-009-9283-3

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