Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer

Seoyoung Yoon, Tae Sung Park, Namkyu Kim, Kyunga Lee, Juwon Kim, Jaewoo Song, Bo Young Kim, Jong Rak Choi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.

Original languageEnglish
Pages (from-to)61-64
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume188
Issue number2
DOIs
Publication statusPublished - 2009 Jan 15

Fingerprint

Hereditary Nonpolyposis Colorectal Neoplasms
Nonsense Codon
Genes
Exons
Nucleotides
Frameshift Mutation
Mutation
Thymine
Germ-Line Mutation
Cytosine
Codon
Colorectal Neoplasms
DNA
Neoplasms

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Yoon, Seoyoung ; Park, Tae Sung ; Kim, Namkyu ; Lee, Kyunga ; Kim, Juwon ; Song, Jaewoo ; Kim, Bo Young ; Choi, Jong Rak. / Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer. In: Cancer Genetics and Cytogenetics. 2009 ; Vol. 188, No. 2. pp. 61-64.
@article{05d0bd77642240f09b723c4c942558b5,
title = "Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer",
abstract = "Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5{\%} of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.",
author = "Seoyoung Yoon and Park, {Tae Sung} and Namkyu Kim and Kyunga Lee and Juwon Kim and Jaewoo Song and Kim, {Bo Young} and Choi, {Jong Rak}",
year = "2009",
month = "1",
day = "15",
doi = "10.1016/j.cancergencyto.2008.09.001",
language = "English",
volume = "188",
pages = "61--64",
journal = "Cancer Genetics and Cytogenetics",
issn = "0165-4608",
publisher = "Elsevier Inc.",
number = "2",

}

Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer. / Yoon, Seoyoung; Park, Tae Sung; Kim, Namkyu; Lee, Kyunga; Kim, Juwon; Song, Jaewoo; Kim, Bo Young; Choi, Jong Rak.

In: Cancer Genetics and Cytogenetics, Vol. 188, No. 2, 15.01.2009, p. 61-64.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer

AU - Yoon, Seoyoung

AU - Park, Tae Sung

AU - Kim, Namkyu

AU - Lee, Kyunga

AU - Kim, Juwon

AU - Song, Jaewoo

AU - Kim, Bo Young

AU - Choi, Jong Rak

PY - 2009/1/15

Y1 - 2009/1/15

N2 - Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.

AB - Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases. In a study of three Korean families with HNPCC consistent with the revised Bethesda criteria, DNA testing revealed three novel HNPCC germline mutations in two genes: namely, MLH1, with an insertion resulting in a frameshift and a premature stop codon; MSH2, with a deletion at nucleotide 633, exon 3, which results in stop of translation at codon 213; and MSH2, with a deletion at nucleotide 1413, exon 9, resulting in a frameshift and a premature stop codon. In the first two families, there were splice mutations at c.2006-6 thymine to cytosine. The clinical implications of a frameshift mutation are discussed, along with the significance of common underlying splice mutations existing within families with HNPCC.

UR - http://www.scopus.com/inward/record.url?scp=57549090222&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=57549090222&partnerID=8YFLogxK

U2 - 10.1016/j.cancergencyto.2008.09.001

DO - 10.1016/j.cancergencyto.2008.09.001

M3 - Article

C2 - 19100506

AN - SCOPUS:57549090222

VL - 188

SP - 61

EP - 64

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 2

ER -