BRCA1 mutations and colorectal cancer in Poland

Fam Cancer. 2010 Dec;9(4):541-4. doi: 10.1007/s10689-010-9378-x.

Abstract

Evidence to date that germline mutations in the tumor suppressor gene BRCA1 increase the incidence of colorectal cancer is mixed, and both positive and negative results have been reported. To establish whether or not inherited variation in BRCA1 influences the risk of colorectal cancer, we genotyped 2,398 unselected patients with colorectal cancer and 4,570 controls from Poland for three BRCA1 founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.42% of unselected cases of colorectal cancer and in 0.48% of controls (OR = 0.8; P = 0.8). The mutation frequency was slightly higher (0.93%) in 321 cases who reported a family history of colon cancer in a first- or second-degree relative (OR = 1.9; P = 0.5). A BRCA1 mutation was also seen in excess (0.82%) in 851 cases who were diagnosed with colorectal cancer at age 60 or earlier (OR = 1.7; P = 0.3). The mean age at onset in carriers was 7 years younger than in non-carriers (57.0 years vs. 64.0) and the difference was significant (P = 0.05). This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics*
  • Case-Control Studies
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • Female
  • Founder Effect
  • Genetic Predisposition to Disease*
  • Genotype
  • Germ-Line Mutation / genetics*
  • Heterozygote
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Odds Ratio
  • Poland
  • Polymerase Chain Reaction
  • Risk Factors
  • Young Adult

Substances

  • BRCA1 Protein
  • DNA, Neoplasm