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LOH and mutation analysis of CDKN2 in primary human ovarian cancers

I G Campbell1, W D Foulkes, G Beynon

  • 1Department of Obstetrics and Gynaecology, University of Southampton, Princess Anne Hospital, UK.

International Journal of Cancer
|October 9, 1995
PubMed

Insights

Frequent loss of chromosome 9p21 occurs early in ovarian cancer development, but the CDKN2 gene itself is rarely mutated. This suggests other genes on 9p21 are involved in ovarian tumorigenesis.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • The CDKN2 gene, a cell cycle regulator, is located on chromosome 9p21, a region frequently deleted in various primary tumors.
  • While CDKN2 gene mutations are common in tumor cell lines, they are less frequent in primary tumors.
  • Understanding CDKN2's role in ovarian cancer is crucial given its chromosomal location.

Purpose of the Study:

  • To investigate the role of the CDKN2 gene in ovarian cancer.
  • To analyze allelic loss of 9p21 and mutations in CDKN2 exons 1 and 2 in primary ovarian tumors.

Main Methods:

  • Analysis of allelic loss on chromosome 9p21 in 67 primary ovarian tumors.
  • Single-strand conformational polymorphism (SSCP) analysis of CDKN2 exons 1 and 2.
  • Assessment for somatic and germline mutations and polymorphisms in the CDKN2 gene.

Main Results:

  • Loss of heterozygosity (LOH) on 9p21 was frequently observed in 24 out of 50 informative ovarian tumors, often in early-stage disease.
  • Homozygous deletion of the CDKN2 gene was detected in only one tumor.
  • No somatic or germline mutations in CDKN2 were found; a codon 140 polymorphism was present in two cases.

Conclusions:

  • Frequent 9p21 allelic loss is an early event in ovarian tumorigenesis.
  • The CDKN2 gene is unlikely to be the primary target of these 9p allelic losses in ovarian cancer.
  • Other gene(s) located on chromosome 9p21 may be implicated in ovarian tumor development.

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