Familial Cancer

, Volume 6, Issue 3, pp 281–286

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

Authors

  • Anna P. Sokolenko
    • N.N. Petrov Institute of Oncology
  • Maxim E. Rozanov
    • N.N. Petrov Institute of Oncology
  • Natalia V. Mitiushkina
    • N.N. Petrov Institute of Oncology
  • Natalia Yu. Sherina
    • N.N. Petrov Institute of Oncology
  • Aglaya G. Iyevleva
    • N.N. Petrov Institute of Oncology
  • Elena V. Chekmariova
    • N.N. Petrov Institute of Oncology
  • Konstantin G. Buslov
    • N.N. Petrov Institute of Oncology
  • Evgeny S. Shilov
    • N.N. Petrov Institute of Oncology
  • Alexandr V. Togo
    • N.N. Petrov Institute of Oncology
  • Elena M. Bit-Sava
    • N.N. Petrov Institute of Oncology
  • Dmitry A. Voskresenskiy
    • N.N. Petrov Institute of Oncology
  • Oleg L. Chagunava
    • Center of Mammology
  • Peter Devilee
    • Leiden University Medical Center
  • Cees Cornelisse
    • Leiden University Medical Center
  • Vladimir F. Semiglazov
    • N.N. Petrov Institute of Oncology
    • N.N. Petrov Institute of Oncology
Article

DOI: 10.1007/s10689-007-9120-5

Cite this article as:
Sokolenko, A.P., Rozanov, M.E., Mitiushkina, N.V. et al. Familial Cancer (2007) 6: 281. doi:10.1007/s10689-007-9120-5

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 (≤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.

Keywords

Breast cancerFounder mutationBRCA1BRCA2CHEK2NBS1

Copyright information

© Springer Science + Business Media B.V. 2007