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.
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Acknowledgements
This work was supported by INTAS (grant 03–51–4234), RFBR (grant 05–04–49774), Government of Moscow (grant 06–15). We are grateful to Dr. Olga Sinilnikova (IARC, Lyon, France) for providing control DNA samples. We also thank Mrs. Olga S. Yatsuk, Olga A. Zaitseva and Liudmila V. Rikunova for their technical assistance.
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Sokolenko, A.P., Rozanov, M.E., Mitiushkina, N.V. et al. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. Familial Cancer 6, 281–286 (2007). https://doi.org/10.1007/s10689-007-9120-5
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DOI: https://doi.org/10.1007/s10689-007-9120-5