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Germline mutation and genome instability.

S Olschwang1

  • 1INSERM U434 CEPH, Paris, France.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)
|April 20, 2000
PubMed
Summary
This summary is machine-generated.

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Genetic mutations in DNA mismatch repair (MMR) genes predispose individuals to hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Defects in MMR genes cause replication errors (RER+), a hallmark of 92% of HNPCC-associated colorectal tumors.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Colorectal cancer (CRC) development involves genomic alterations.
  • Hereditary cancer syndromes like familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC) account for 5-10% of CRC cases.
  • Diagnostic criteria for HNPCC were established in 1991 to facilitate genetic linkage analyses.

Purpose of the Study:

  • To identify genes associated with HNPCC syndrome.
  • To understand the role of DNA mismatch repair (MMR) genes in colorectal tumorigenesis.
  • To characterize the replication error positive (RER+) phenotype in colorectal cancers.

Main Methods:

  • Germline mutation analysis of MMR genes (MSH2, MLH1, PMS1, PMS2, MSH6).
  • Investigation of mutations in the TGFbeta RII gene.

Related Experiment Videos

  • Assessment of microsatellite instability and replication error (RER) status in colorectal tumors.

    • Main Results:

    • Five MMR genes (MSH2, MLH1, PMS1, PMS2, MSH6) were identified with germline mutations in HNPCC patients.
    • The TGFbeta RII gene showed germline mutations in a subset of HNPCC patients.
    • Tumors with high RER frequency (RER+) constitute 10-15% of all CRCs and 92% of HNPCC-associated CRCs.

    Conclusions:

    • Germline mutations in MMR genes are a primary cause of HNPCC syndrome.
    • Defects in DNA mismatch repair lead to replication error accumulation and tumorigenesis.
    • The RER+ phenotype is strongly associated with HNPCC and indicates underlying MMR deficiency.