Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.

Abstract:

:Colorectal cancer (CRC) is one of the most common neoplasms and a leading cause of death related to cancer worldwide. Hereditary nonpolyposis colorectal cancer (HNPCC) is the most frequent autosomal dominant predisposition to the development of CRC, accounting for approximately 2.5% of the total CRC burden in Spain. Genomic rearrangements in the MSH2 and MLH1 genes have been reported to account for an important proportion of the mutation spectrum in HNPCC, and DNA dosage techniques have been developed facilitating molecular screening of such deletions/duplications. We screened for MSH2 and MLH1 genomic rearrangements by multiplex ligation-dependent probe amplification (MLPA) in 142 Spanish patients at risk for HNPCC prior to the exon-by-exon mutation scanning and found a deletion encompassing exons 9-16 of MSH2 and a duplication encompassing exons 11-16 of MSH2, both only in one case. These results showed that MSH2/MLH1 rearrangements in Spanish patients at risk for HNPCC seem to be a less frequent mutational event than in other populations.

journal_name

Cancer Lett

journal_title

Cancer letters

authors

Castellví-Bel S,Castells A,Strunk M,Ferrández A,Piazuelo E,Milà M,Piñol V,Rodríguez-Moranta F,Andreu M,Lanas A,Piqué JM,Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

doi

10.1016/j.canlet.2005.01.036

keywords:

subject

Has Abstract

pub_date

2005-07-08 00:00:00

pages

93-8

issue

1

eissn

0304-3835

issn

1872-7980

pii

S0304-3835(05)00105-9

journal_volume

225

pub_type

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