Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia

Fam Cancer. 2007;6(3):281-6. doi: 10.1007/s10689-007-9120-5. Epub 2007 Feb 28.

Abstract

Previous studies indicate that founder mutations may play a noticeable role in breast cancer (BC) predisposition in Russia. Here we performed a systematic analysis of eight recurrent mutations in 302 BC cases (St.-Petersburg, Russia), which were selected due to the presence of clinical indicators of hereditary disease (bilaterality and/or early onset (< or =40 years) and/or family history). BC-associated alleles were revealed in 46 (15.2%) women. BRCA1 5382insC mutation was detected in 29 (9.6%) patients, CHEK2 1100delC in 9 (3.0%), BRCA1 4153delA in 3 (1.0%), CHEK2 IVS2+1G>A in 2 (0.7%), and BRCA1 185delAG, BRCA2 6174delT and NBS1 657del5 in 1 (0.3%) patient each. No cases with BRCA1 300T>G (C61G) mutation was identified. The obtained data suggest that a significant fraction of hereditary BC cases in Russia can be diagnosed using only a limited number of simple PCR tests.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics*
  • Base Sequence
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Cell Cycle Proteins / genetics*
  • Checkpoint Kinase 2
  • Female
  • Founder Effect*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • Russia / epidemiology

Substances

  • BRCA1 Protein
  • Cell Cycle Proteins
  • NBN protein, human
  • Nuclear Proteins
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein Serine-Threonine Kinases