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Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia
Authors:Anna P Sokolenko  Maxim E Rozanov  Natalia V Mitiushkina  Natalia Yu Sherina  Aglaya G Iyevleva  Elena V Chekmariova  Konstantin G Buslov  Evgeny S Shilov  Alexandr V Togo  Elena M Bit-Sava  Dmitry A Voskresenskiy  Oleg L Chagunava  Peter Devilee  Cees Cornelisse  Vladimir F Semiglazov  Evgeny N Imyanitov
Institution:(1) N.N. Petrov Institute of Oncology, Pesochny-2, St.-Petersburg, 197758, Russia;(2) Center of Mammology, St.-Petersburg, Russia;(3) Leiden University Medical Center, Leiden, The Netherlands
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 cancer  Founder mutation  BRCA1  BRCA2  CHEK2  NBS1
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