title: Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland.
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.
  
  
  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.
  
  
  CONCLUSIONS
  Our results indicate that NBS1 mutations do not contribute significantly to breast or ovarian cancer development.
authors: Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
authors: Celina
authors: C
authors: Kanka
authors: Izabela
authors: I
authors: Brozek
authors: Beata
authors: B
authors: Skalska
authors: Anna
authors: A
authors: Siemiatkowska
authors: Janusz
authors: J
authors: Limon
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001943:Breast Neoplasms / Q000097:blood / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000097:blood / Q000235:genetics*; D011044:Poland
chemical_list: D018797:Cell Cycle Proteins; D004273:DNA, Neoplasm; C112156:NBN protein, human; D009687:Nuclear Proteins