Evgeny N Imyanitov

..Ideally, all family members affected by breast or ovarian tumor disease have to be subjected to the DNA testing, and failure to detect the mutation in any of them calls for the search of the second cancer-associated allele...

..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...

..Thus an involvement of both RER(+) and borderline MI appears to be a distinct feature of bilateral breast carcinomas compared to unilateral lesions...

..1%). Both these carriers were early-onset and had serous carcinomas of grade 3. Thus, our study supports neither the Russian origin of BRCA1 4153delA mutation, nor its selectivity towards ovarian versus breast cancer predisposition...

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..Comprehensive studies on distribution of cancer-related gene polymorphisms in elderly population remain to be done...

..Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies...

..Systematic analysis of cancer-predisposing relevance of other apoptotic gene SNPs remains to be done...

..Taken together with literature data, this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification...

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..014). Overall, our data suggest that sharing natural histories of the disease, which is more evident in synchronous and/or premenopausal forms of biBC, may result in a similarity of molecular portraits in bilateral breast tumors...

..Further research on the biBC molecular pathogenesis may significantly contribute to the general understanding of the process of malignant transformation...

..Here we present a distinct situation, where the combination of alternative alleles (i.e., heterozygosity) appears to be unfavorable as compared to the homozygous carriership of either gene variant...

..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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..We conclude that the non-founder mutations constitute the minority of BRCA1 defects in Russia...

..The presented data confirm a noticeable contribution of BRCA1 5382insC mutation in BC development in Russia, that may justify an extended BRCA1 5382insC testing within this population...

..The experience of the use of this EGFR tyrosine kinase inhibitor (TKI) in non-Asian subjects remains limited...

..In 2 of these tumors, the loss involved the mutant NBS1-allele. Overall, our data suggest that the NBS1 657del5 allele may contribute only to a limited fraction of breast cancer cases in Russia...

..This study was aimed to validate whether the CYP1A1-C (3801) (CYP1A1*2) allele has an unfavorable significance alone and/or in combination with the GSTM1 deficiency...

..The present study was designed to examine this unexpected phenomenon in more detail...

..92-1.50), p=0.21; OR=1.19 (95% CI: 0.95-1.51), p=0.14, respectively), the obtained data indicate that Casp5, Casp8 and DR4 gene polymorphisms may deserve consideration in large-scale case-control studies of LC risk modifiers...

..Non-small cell lung carcinomas (NSCLC) carrying a mutation in the epidermal growth factor receptor (EGFR) gene show unprecedented sensitivity to gefitinib or erlotinib...

..Measurement of intratumoral expression of dihydropyrimidine dehydrogenase (DPD) and thymidylate synthase (TS) may have some value in predicting the response to fluoropyrimidine-containing therapy...

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..Comparison of subjects with extreme phenotypes of cancer susceptibility and tolerance allows to detect low-penetrance gene-disease interactions with a relatively small study size...

..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...

..One tumor harbored somatically acquired silent nucleotide substitution c.1383A>G (T461T). This study adds to the evidence that a substantial portion of MMs carry a therapeutically relevant mutation in the KIT oncogene...

..It is expected that the increasing capacities of available DNA collections, coupled with the rapid development of high-throughput genotyping technologies, will vastly accelerate the research on polygenic cancer susceptibility...

..A1/A1 CYP17 variant may be associated with untraditional (non-steroidal) pathways that calls for corresponding preventive measures in high-risk groups...

..This report exemplifies that even very uncommon breast tumor types may develop through biallelic inactivation of BRCA1 gene, that has to be considered in the genetic testing settings...

..This case report suggests that kidney tumors have to be investigated more closely with respect to the occurrence of TKI-sensitizing EGFR mutations...

..We explore these assumptions theoretically and empirically using published data from breast cancer studies involving bilateral breast cancer...

..004). This study suggests that bilateral breast tumors have somewhat distinct pattern of molecular events as compared to the unilateral disease...

..009). Thus, these findings indicate a general dysregulation of spontaneous apoptosis in primary breast tumors...