Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland

Anticancer Res. 2007 Jul-Aug;27(4C):3015-8.

Abstract

Background: NBS1 gene, which product participates in DNA repair, has been postulated to be a susceptibility factor for a number of types of cancer, including breast cancer. The carrier frequency of the 657del5 and I171V NBS1 gene mutations among Polish patients with familial breast and/or ovarian cancer was compared with that of randomly selected newborns.

Patients and methods: Using allele-specific amplification-polymerase chain reaction (ASAPCR) and restriction fragment length polymorphismpolymerase chain reaction (RFLP-PCR) techniques, blood samples were analysed from 250 patients with breast or/and ovarian cancer and a total number of 4,000 for 657del5 mutation and 1,300 for I1171V mutation controls.

Results: Although an increased frequency of both mutations in cancer cases - 0.8% of 657del5 and 2.4% of I171V, compared to controls - 0.52% and 1.38%, respectively, was found, the differences were not statistically significant.

Conclusion: Our results indicate that NBS1 mutations do not contribute significantly to breast or ovarian cancer development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Breast Neoplasms / blood
  • Breast Neoplasms / genetics*
  • Cell Cycle Proteins / genetics*
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics
  • Female
  • Genes, BRCA1
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Ovarian Neoplasms / blood
  • Ovarian Neoplasms / genetics*
  • Poland

Substances

  • Cell Cycle Proteins
  • DNA, Neoplasm
  • NBN protein, human
  • Nuclear Proteins