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 |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
|
