Evgeny N Suspitsin

Publications (27) View all

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  Article: High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

  Anna P Sokolenko, Aglaya G Iyevleva, Elena V Preobrazhenskaya, Nathalia V Mitiushkina, Svetlana N Abysheva, Evgeny N Suspitsin, Ekatherina Sh Kuligina, Tatiana V Gorodnova, Werner Pfeifer, Alexandr V Togo, [......], Dmitry V Voskresenskiy, Georgy D Dolmatov, Elena M Bit-Sava, Dmitry E Matsko, Vladimir F Semiglazov, Iduna Fichtner, Alexey A Larionov, Sergey G Kuznetsov, Antonis C Antoniou, Evgeny N Imyanitov
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  ABSTRACT: The BLM gene belongs to the RecQ helicase family and has been implicated in the maintenance of genomic stability. Its homozygous germline inactivation causes Bloom syndrome, a severe genetic disorder characterized by growth retardation, impaired fertility and highly elevated cancer risk. We hypothesized that BLM is a candidate gene for breast cancer (BC) predisposition. Sequencing of its entire coding region in 95 genetically enriched Russian BC patients identified two heterozygous carriers of the c.1642 C>T (Q548X) mutation. The extended study revealed this allele in 17/1,498 (1.1%) BC cases vs. 2/1,093 (0.2%) healthy women (p = 0.004). There was a suggestion that BLM mutations were more common in patients reporting first-degree family history of BC (6/251 (2.4%) vs. 11/1,247 (0.9%), p = 0.05), early-onset cases (12/762 (1.6%) vs. 5/736 (0.7%), p = 0.14) and women with bilateral appearance of the disease (2/122 (1.6%) vs. 15/1376 (1.1%), p = 0.64). None of the BLM-associated BC exhibited somatic loss of heterozygosity at the BLM gene locus. This study demonstrates that BLM Q548X allele is recurrent in Slavic subjects and may be associated with BC risk.
  International Journal of Cancer 08/2011; 130(12):2867-73. · 5.44 Impact Factor
• Article: Paired distribution of molecular subtypes in bilateral breast carcinomas.

  Hege G Russnes, Ekatherina Sh Kuligina, Evgeny N Suspitsin, Dmitry A Voskresenskiy, Ekaterina S Jordanova, Cees J Cornelisse, Anne-Lise Borresen-Dale, Evgeny N Imyanitov
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  ABSTRACT: The last decade has revealed fundamental new insight into the existence of intrinsic molecular subclasses of breast carcinomas. By using immunostaining on archival tissue, we classified tumor pairs from 50 patients with bilateral disease into molecular subgroups (luminal, triple-negative basal-like, and triple-negative unclassified). Synchronous tumors showed a slightly higher rate of concordant pairs than metachronous tumors, and luminal tumors were highly concordant regardless of being synchronous or metachronous (P = 0.001 and P = 0.002, respectively). Metachronous cases had a higher degree of discordance if the time interval was longer than 10 years; this was most pronounced for triple-negative tumors. The relationship found between subtypes of bilateral tumors provides additional evidence for the role of host-related factors in determining the molecular type of breast cancer.
  Cancer Genetics 02/2011; 204(2):96-102.
• Article: Rapid symptomatic improvement in gefitinib-treated patients with EGFR-mutated lung cancer: possible role of downregulation of inflammatory molecules?

  Evgeny N Suspitsin, Evgeny V Levchenko, Fedor V Moiseyenko, Alexandr O Ivantsov, Samira A Radzhabova, Dmitry E Matsko, Vladimir M Moiseyenko, Evgeny N Imyanitov
  Onkologie 01/2011; 34(10):559-60. · 0.87 Impact Factor
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  Article: Non-founder BRCA1 mutations in Russian breast cancer patients.

  Aglaya G Iyevleva, Evgeny N Suspitsin, Karin Kroeze, Tatiana V Gorodnova, Anna P Sokolenko, Konstantin G Buslov, Dmitry A Voskresenskiy, Alexandr V Togo, Sergey P Kovalenko, Nienke van der Stoep, Peter Devilee, Evgeny N Imyanitov
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  ABSTRACT: A few founder BRCA1 mutations (5382insC, 4154delA, 185delAG) account for up to 15% of high-risk (young-onset or familial or bilateral) breast cancer (BC) cases in Russia. The impact of non-founder BRCA1 mutations in this country is less studied; in particular, there are no reports analyzing gross rearrangements of this gene in the Russian patient series. We selected for the study 95 founder mutation negative high-risk BC cases. Combination of high-resolution melting (HRM) and sequencing revealed six presumably BC-associated alleles (2080delA, 4808C>G, 5214C>T, 5236G>A, 5460G>T, 5622C>T) and one variant of an unknown significance (4885G>A). The pathogenic role of the 5236G>A mutation leading to G1706E substitution was further confirmed by the loss of heterozygosity analysis of the corresponding tumor tissue. Multiplex ligation-dependent probe amplification (MLPA) revealed two additional BRCA1 heterozygotes, which carried BRCA1 deletions involving exons 1-2 and 3-7, respectively. Based on the results of this investigation and the review of prior Russian studies, three BRCA1 mutations (2080delA, 3819del5, 3875del4) were considered with respect to their possible founder effect and tested in the additional series of 210 high-risk BC patients; two BRCA heterozygotes (2080delA and 3819del5) were revealed. We conclude that the non-founder mutations constitute the minority of BRCA1 defects in Russia.
  Cancer letters 12/2010; 298(2):258-63. · 4.86 Impact Factor
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  Article: Hereditary breast-ovarian cancer syndrome in Russia.

  A P Sokolenko, A G Iyevleva, N V Mitiushkina, E N Suspitsin, E V Preobrazhenskaya, E Sh Kuligina, D A Voskresenskiy, O S Lobeiko, N Yu Krylova, T V Gorodnova, [......], I S Polyakov, S N Abysheva, A S Katanugina, D V Baholdin, G A Yanus, A V Togo, V M Moiseyenko, S Ya Maximov, V F Semiglazov, E N Imyanitov
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  ABSTRACT: Hereditary breast-ovarian cancer syndrome contributes to as much as 5-7% of breast cancer (BC) and 10-15% of ovarian cancer (OC) incidence. Mutations in the "canonical" genesBRCA1andBRCA2occur in 20-30% of affected pedigrees. In addition toBRCA1andBRCA2 mutations, germ-line lesions in theCHEK2,NBS1, andPALB2genes also contribute to familial BC clustering. The epidemiology of hereditary breast-ovarian cancer in Russia has some specific features. The impact of the "founder" effect is surprisingly remarkable: a single mutation,BRCA15382insC, accounts for the vast majority ofBRCA1defects across the country. In addition, there are two other recurrentBRCA1alleles:BRCA14153delA andBRCA1185delAG. BesidesBRCA1, in Russia breast cancer is often caused by germ-line alterations in theCHEK2andNBS1genes. In contrast toBRCA1andBRCA2, theCHEK2andNBS1heterozygosity does not significantly increase the OC risk. Several Russian breast cancer clinics recently started to investigate the efficacy of cisplatin in the therapy ofBRCA1-related cancers; initial results show a unique sensitivity ofBRCA1-associated tumours to this compound.
  Acta naturae. 10/2010; 2(4):31-5.