CDKN2A-positive breast cancers in young women from Poland

Breast Cancer Res Treat. 2007 Jul;103(3):355-9. doi: 10.1007/s10549-006-9382-x. Epub 2006 Oct 24.

Abstract

Purpose: To investigate the contribution of CDKN2A A148T common variant to early-onset breast cancer in Poland, and to establish the characteristic features of these cancers.

Experimental design: We studied 3,069 women diagnosed with breast cancer under the age of 51 and 3,493 population controls. CDKN2A variant were detected using RFLP-PCR and confirmed by genomic sequencing. Clinical and pathological features of CDKN2A-positive cases and CDKN2A-negative cases were compared.

Results: A148T variant was identified in 157 of 3,069 women with breast cancer (5.1%). Overall, the odds ratio for early-onset breast cancer, given a CDKN2A variant was 1.4 (95% CI 1.075-1.725; P = 0.012). Breast tumors in women with the CDKN2A variant were more commonly intraductal cancers (DCIS) with micro-invasion (14.8% vs. 8.5%; P = 0.035). Carriers and non-carriers were similar with respect to tumor size, laterality, multicentricity, nodal status, family history and estrogen-receptor status.

Conclusion: The CDKN2A A148T variant seems to contribute to early-onset breast cancer in Poland. Breast tumors which arise in carriers of A148T variant appear to be similar to those of breast cancers in the population at large.

MeSH terms

  • Adult
  • Age of Onset
  • Breast Neoplasms / genetics*
  • Cyclin-Dependent Kinase Inhibitor p16 / biosynthesis*
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Variation
  • Germ-Line Mutation
  • Humans
  • Middle Aged
  • Mutation*
  • Poland
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Receptors, Estrogen / metabolism

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • Receptors, Estrogen