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Erschienen in:

01.09.2007

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

verfasst von: 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

Erschienen in: Familial Cancer | Ausgabe 3/2007

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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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Titel: Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia
verfasst von: 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
Publikationsdatum: 01.09.2007
Verlag: Kluwer Academic Publishers
Erschienen in: Familial Cancer / Ausgabe 3/2007
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-007-9120-5

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