Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25

Hum Mol Genet. 2001 Jun 15;10(13):1421-9. doi: 10.1093/hmg/10.13.1421.

Abstract

We performed genome-wide linkage analysis in 58 patients and nine unaffected members among 28 families with no mutation in BRCA1 or BRCA2, employing a set of 410 microsatellite markers. We initially screened the whole genome, including the X chromosome, by a non-parametric method using the GENEHUNTER program. As a result, chromosome 3p22-p25 showed a suggestive score for linkage [LOD = 3.49 and non-parametric LOD (NPL) = 2.77 at D3S3611] based on a multipoint analysis. Additionally, based on a two-point analysis using dense markers, this 3p22-p25 region showed a P-value < 0.05 at 10 markers and there is suggestive evidence for linkage at two markers within approximately 19 cM (NPL = 2.60 and 2.49 at D3S1597 and D3S3611, respectively). To explore whether the candidate gene in this 3p22-p25 region contributed to carcinogenesis of familial ovarian cancer in a similar fashion to the tumor suppressor gene, we performed loss of heterozygosity (LOH) analysis. It was observed that the frequency of LOH at four markers in this region was >50% only in tumor tissues from patients with no mutation in BRCA1 or BRCA2, not in those with a BRCA1 mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • BRCA1 Protein / genetics
  • BRCA2 Protein
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • Family Health
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human
  • Genotype
  • Humans
  • Loss of Heterozygosity
  • Microsatellite Repeats
  • Middle Aged
  • Mutation
  • Neoplasm Proteins / genetics
  • Ovarian Neoplasms / genetics*
  • Transcription Factors / genetics

Substances

  • BRCA1 Protein
  • BRCA2 Protein
  • DNA, Neoplasm
  • Neoplasm Proteins
  • Transcription Factors