hMSH2 Mutations in Hereditary Nonpolyposis Colorectal Cancer Kindreds

Bo Liu; Ramon E. Parsons; Stanley R. Hamilton; Kenneth W. Kinzler; Bert Vogelstein; Gloria M. Petersen; Henry T. Lynch; Patrice Watson; Sanford Markowitz; James K.V. Willson; Jane Green; Albert de la Chapelle

hMSH2 Mutations in Hereditary Nonpolyposis Colorectal Cancer Kindreds

Bo Liu, Ramon E. Parsons, Stanley R. Hamilton, Kenneth W. Kinzler, Bert Vogelstein, Gloria M. Petersen, Henry T. Lynch, Patrice Watson, Sanford Markowitz, James K.V. Willson, Jane Green, Albert de la Chapelle

Quantitative Health Sciences

Research output: Contribution to journal › Article › peer-review

360 Scopus citations

Abstract

It has recently been shown that hereditary nonpolyposis colorectal cancer (HNPCC) is caused by hereditable defects in DNA mismatch repair genes. However, the fraction of HNPCC due to defects in any one repair gene and the nature of these mutations are not known. We analyzed 29 HNPCC kindreds for mutations in the prototype DNA mismatch repair gene hMSH2 by a combination of linkage analysis, polymerase chain reaction-based screening, and sequencing of the coding region. The complete intron/exon structure of the gene was ascertained to facilitate this analysis. The results suggest that at least 40% of classic HNPCC kindreds are associated with germline mutations in hMSH2 and that most of these mutations produce drastic alterations in the predicted protein product.

Original language	English (US)
Pages (from-to)	4590-4594
Number of pages	5
Journal	Cancer research
Volume	54
Issue number	17
State	Published - Sep 1994

ASJC Scopus subject areas

Oncology
Cancer Research

Cite this

@article{235470e3964e41ed9897dbda0acec97d,

title = "hMSH2 Mutations in Hereditary Nonpolyposis Colorectal Cancer Kindreds",

abstract = "It has recently been shown that hereditary nonpolyposis colorectal cancer (HNPCC) is caused by hereditable defects in DNA mismatch repair genes. However, the fraction of HNPCC due to defects in any one repair gene and the nature of these mutations are not known. We analyzed 29 HNPCC kindreds for mutations in the prototype DNA mismatch repair gene hMSH2 by a combination of linkage analysis, polymerase chain reaction-based screening, and sequencing of the coding region. The complete intron/exon structure of the gene was ascertained to facilitate this analysis. The results suggest that at least 40% of classic HNPCC kindreds are associated with germline mutations in hMSH2 and that most of these mutations produce drastic alterations in the predicted protein product.",

author = "Bo Liu and Parsons, {Ramon E.} and Hamilton, {Stanley R.} and Kinzler, {Kenneth W.} and Bert Vogelstein and Petersen, {Gloria M.} and Lynch, {Henry T.} and Patrice Watson and Sanford Markowitz and Willson, {James K.V.} and Jane Green and Chapelle, {Albert de la}",

year = "1994",

month = sep,

language = "English (US)",

volume = "54",

pages = "4590--4594",

journal = "Cancer research",

issn = "0008-5472",

publisher = "American Association for Cancer Research Inc.",

number = "17",

}

TY - JOUR

T1 - hMSH2 Mutations in Hereditary Nonpolyposis Colorectal Cancer Kindreds

AU - Liu, Bo

AU - Parsons, Ramon E.

AU - Hamilton, Stanley R.

AU - Kinzler, Kenneth W.

AU - Vogelstein, Bert

AU - Petersen, Gloria M.

AU - Lynch, Henry T.

AU - Watson, Patrice

AU - Markowitz, Sanford

AU - Willson, James K.V.

AU - Green, Jane

AU - Chapelle, Albert de la

PY - 1994/9

Y1 - 1994/9

N2 - It has recently been shown that hereditary nonpolyposis colorectal cancer (HNPCC) is caused by hereditable defects in DNA mismatch repair genes. However, the fraction of HNPCC due to defects in any one repair gene and the nature of these mutations are not known. We analyzed 29 HNPCC kindreds for mutations in the prototype DNA mismatch repair gene hMSH2 by a combination of linkage analysis, polymerase chain reaction-based screening, and sequencing of the coding region. The complete intron/exon structure of the gene was ascertained to facilitate this analysis. The results suggest that at least 40% of classic HNPCC kindreds are associated with germline mutations in hMSH2 and that most of these mutations produce drastic alterations in the predicted protein product.

AB - It has recently been shown that hereditary nonpolyposis colorectal cancer (HNPCC) is caused by hereditable defects in DNA mismatch repair genes. However, the fraction of HNPCC due to defects in any one repair gene and the nature of these mutations are not known. We analyzed 29 HNPCC kindreds for mutations in the prototype DNA mismatch repair gene hMSH2 by a combination of linkage analysis, polymerase chain reaction-based screening, and sequencing of the coding region. The complete intron/exon structure of the gene was ascertained to facilitate this analysis. The results suggest that at least 40% of classic HNPCC kindreds are associated with germline mutations in hMSH2 and that most of these mutations produce drastic alterations in the predicted protein product.

UR - http://www.scopus.com/inward/record.url?scp=0028106776&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028106776&partnerID=8YFLogxK

M3 - Article

C2 - 8062247

AN - SCOPUS:0028106776

SN - 0008-5472

VL - 54

SP - 4590

EP - 4594

JO - Cancer research

JF - Cancer research

IS - 17

ER -

hMSH2 Mutations in Hereditary Nonpolyposis Colorectal Cancer Kindreds

Abstract

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this