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Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients.

Abstract：

:Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reaction-single strand conformational polymorphism and direct sequencing methods. Here we report two novel frameshift mutations in this gene in our studied population. One of them results from a deletion of "T" at codon 36, exon 1 which causes premature stop codon and a truncated protein. The other results from a deletion of "T" at codon 753, exon 19 causing a delayed stop codon. There are a variety of the reported novel mutations in hMLH1 gene studies. Identification of these mutations is necessary in different populations and can help the management of colorectal cancer in these populations by screening, by prevention strategies, and by following up the suspected HNPCC families.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

Shahmoradi S,Bidmeshkipour A,Salamian A,Emami MH,Kazemi Z,Salehi M

doi

10.1007/s10689-011-9478-2

subject

Has Abstract

pub_date

2012-03-01 00:00:00

pages

13-7

issue

1

eissn

1389-9600

issn

1573-7292

journal_volume

11

pub_type

杂志文章

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