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Smirnova TY Pospekhova NI Lyubchenko LN Tjulandin SA Gar'kavtseva RF Ginter EK Karpukhin AV 《Bulletin of experimental biology and medicine》2007,144(1):83-85
The incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%. The incidence of mutations in the Russian sampling
of patients, formed without consideration for the family history, is one of the highest in European countries. Retrospective
analysis showed that 9% patients carrying mutation had no family history of ovarian or breast cancer. The majority of mutations
(86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%). These data suggest the possibility and advisability of screening for mutations
in the BRCA1/2 genes in patients with ovarian cancer, particularly because this population includes patients without family history of ovarian
and/or breast cancer.
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Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 144, No. 7, pp. 93–95, July, 2007 相似文献
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Vida Stegel Mateja Krajc Janez Žgajnar Erik Teugels Jacques De Grève Marko Hočevar Srdjan Novaković 《BMC medical genetics》2011,12(1):9
Background
The BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer. 相似文献4.
Domagala P Huzarski T Lubinski J Gugala K Domagala W 《Virchows Archiv : an international journal of pathology》2011,458(1):55-64
The immunophenotypic predictive profile of BRCA1-associated cancers including major predictive markers, i.e., PARP-1, EGFR, c-kit, HER-2, and steroid hormones (ER/PR) that
may have therapeutic relevance has not yet been reported in a comprehensive study. Using immunohistochemistry, we examined
the expression of these proteins in a large cohort of BRCA1-associated breast cancers. PARP-1 immunoreactivity was found in 81.9%, EGFR in 43.6%, ER/PR in 17.9%, c-kit in 14.7%, and
overexpression of HER-2 in 3.6% of cancers. For all markers studied, 8.2% of tumors were negative. Expression of only one
predictive marker was found in 29.7% of cancers, and most frequently, it was PARP-1 (20.8%). In 62.1% of tumors, more than
one predictive marker was expressed: PARP-1 and EGFR in 30.4%, PARP-1, and hormone receptors in 13.3% and PARP-1 with c-kit
in 7.5% of all tumors. Coexpression of two or more other predictive markers was rare. There were significant differences in
the median age at diagnosis of BRCA1-associated cancer between patients with ER+ vs. ER− and grades 1–2 vs. grade 3 tumors. These results demonstrate that BRCA1-associated cancers differ with respect to expression of proteins that are regarded as targets for specific therapies and
that 92% of patients with BRCA1-associated cancers may benefit from one or several options for specific therapy (in addition to DNA damaging agents, e.g.,
cisplatin). About 8% of cancers which do not express therapeutic target proteins may not respond to such therapies. Knowledge
of the immunophenotypic predictive profile may help with the recruitment of patients for trials of targeted therapies. 相似文献
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Bardia A Tiwari SK Gunisetty S Anjum F Nallari P Habeeb MA Khan AA 《Inflammation research》2012,61(4):359-365
Objective
The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC). 相似文献6.
Juliane Friemel Markus Rechsteiner Marion Bawohl Lukas Frick Beat Müllhaupt Mickaël Lesurtel Achim Weber 《BMC clinical pathology》2016,16(1):7
Background
In the spectrum of molecular alterations found in hepatocellular carcinoma (HCC), somatic mutations in the WNT/β-catenin pathway and the p53/cell cycle control pathway are among the most frequent ones. It has been suggested that both mutations occur in a mutually exclusive manner and they are used as molecular classifiers in HCC classification proposals.Case presentation
Here, we report the case of a treatment-naïve mixed hepatocellular/cholangiocellular carcinoma (HCC/CCC) with morphological and genetic intratumor heterogeneity. Within the predominant part of the tumor with hepatocellular differentiation, a p.D32V mutation in exon 3 of the CTNNB1 gene occurred concomitantly with a TP53 intron 7/exon 8 splice site mutation.Conclusion
Intratumor heterogeneity challenges the concept of CTNNB1 and TP53 gene mutations being mutually exclusive molecular classifiers in HCC, which has implications for HCC classification approaches.7.
Galba truncatula snails were experimentally infected with either of two different isolates of Fasciola gigantica, originating from Egypt or China, to determine the influence of these isolates on the characteristics of snail infections. The survival rates of G. truncatula on day 30 post-exposure were 90.0% and 60.2% in the Egyptian and Chinese groups, respectively. The frequency of cercaria-shedding snails within the Egyptian group was 79.8%, whereas in the Chinese group it was 22.4%. The parasite origin had a significant effect on the durations of the prepatent and patent periods. The mean number of cercariae shed from the Egyptian group was significantly greater than that shed from the Chinese group (a mean of 275.5 per cercaria-shedding snail compared with 29.0). These results could be explained by the fact that G. truncatula might be a natural intermediate host for F. gigantica in Egypt, and the greater adaptability of the Egyptian miracidia of F. gigantica to unusual snail hosts. These results demonstrate the influence of the geographic origin of the parasite on the success of trematodes infecting snails. 相似文献
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Karina?M.?Rebello Luzia?M.?C.?C?rtes Bernardo?A.?S.?Pereira Bernardo?M.?O.?Pascarelli Suzana?C?rte-Real Léa?C.?Finkelstein Rosa?T.?Pinho Claudia?M.?d’Avila-Levy Carlos?R.?Alves 《Parasitology research》2009,106(1):95-104
Leishmania (Viannia) braziliensis is the major causative agent of American tegumentary leishmaniasis, a disease that has a wide geographical distribution and
is a severe public health problem. The cysteine proteinase B (CPB) from Leishmania spp. represents an important virulence factor. In this study, we characterized and localized cysteine proteinases in L. (V.) braziliensis promastigotes. By a combination of triton X-114 extraction, concanavalin A-affinity, and ion exchange chromatographies, we
obtained an enriched fraction of hydrophobic proteins rich in mannose residues. This fraction contained two proteinases of
63 and 43 kDa, which were recognized by a CPB antiserum, and were partially sensitive to E-64 in enzymatic assays with the
peptide Glu-Phe-Leu. In confocal microscopy, the CPB homologues localized in the peripheral region of the parasite. This data
together with direct agglutination and flow cytometry assays suggest a surface localization of the CPB homologues. The incubation
of intact promastigotes with phospholipase C reduced the number of CPB-positive cells, while anti-cross-reacting determinant
and anti-CPB antisera recognized two polypeptides (63 and 43 kDa) derived from phospholipase C treatment, suggesting that
some CPB isoforms may be glycosylphosphatidylinositol-anchored. Collectively, our results suggest the presence of CPB homologues
in L. braziliensis surface and highlight the need for further studies on L. braziliensis cysteine proteinases, which require enrichment methods for enzymatic detection. 相似文献
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Cejkova P Zettl A Baumgärtner AK Chott A Ott G Müller-Hermelink HK Starostik P 《Virchows Archiv : an international journal of pathology》2005,446(4):416-420
We have shown previously that amplification of chromosomal region 9q34 is the most frequent aberration in enteropathy-type T-cell lymphoma (ETL). To determine the minimum amplified 9q34 region and identify possible candidate gene(s), we performed a detailed microsatellite screening and quantitative real-time PCR (QPCR) on 26 ETL cases. Microsatellite analysis revealed allelic imbalance in both ABL1 and NOTCH1 gene loci (microsatellites D9S290–D9S1847 and D9S158 flanking the former and latter genes, respectively) localized in the band 9q34. The results were confirmed by TaqMan-based QPCR showing amplification of ABL1 and NOTCH1 exons in 50% and 65% of cases, respectively. Amplifications of the NOTCH1 gene were more frequent than of the ABL1 gene; moreover, the analyzed NOTCH1 exon consistently displayed higher levels of amplification than ABL1 coding sequences. From 9q34 known genes, NOTCH1 could thus be the primary target of genomic DNA amplification in ETL. 相似文献
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Alessandro Monaco Filippo Menolascina Yingdong Zhao Stefania Tommasi Marianna Sabatino Ross Fasano Angelo Paradiso Francesco M Marincola Ena Wang 《Journal of translational medicine》2008,6(1):64
The need for fast, efficient, and less costly means to screen genetic variants associated with disease predisposition led
us to develop an oligo-nucleotide array-based process for gene-specific single nucleotide polymorphism (SNP) genotyping. This
cost-effective, high-throughput strategy has high sensitivity and the same degree of accuracy as direct sequencing, the current
gold standard for genetic screening. We used the BRCA1 breast and ovarian cancer predisposing gene model for the validation of the accuracy and efficiency of our strategy. This
process could detect point mutations, insertions or deletions of any length, of known and unknown variants even in heterozygous
conditions without affecting sensitivity and specificity. The system could be applied to other disorders and can also be custom-designed
to include a number of genes related to specific clinical conditions. This system is particularly useful for the screening
of long genomic regions with relatively infrequent but clinically relevant variants, while drastically cutting time and costs
in comparison to high-throughput sequencing. 相似文献
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Tracing origin of serrated adenomas with <Emphasis Type="Italic">BRAF</Emphasis> and <Emphasis Type="Italic">KRAS</Emphasis> mutations 总被引:4,自引:0,他引:4
Lee EJ Choi C Park CK Maeng L Lee J Lee A Kim KM 《Virchows Archiv : an international journal of pathology》2005,447(3):597-602
Serrated neoplasm of the colorectum raised many as-yet unanswered issues. To characterize serrated neoplasia pathway, we investigated BRAF and KRAS mutations in 35 traditional serrated adenomas. BRAF exons 11 and 15, and KRAS exon 2 were amplified by polymerase chain reaction and directly sequenced. BRAF V599E mutation was found in 27 serrated adenomas (77.1%), and KRAS mutations were found in 3 (8.6%) of 35 traditional serrated adenomas. In 13 cases, mixed polyps composed of traditional serrated adenomas and hyperplastic (serrated) polyps were observed, and seven of them showed the same BRAF mutations in both components. Somatic mutations of BRAF and KRAS genes were mutually exclusive. These findings suggest that BRAF mutations are early and a critical event in the serrated adenomas, and most serrated adenomas in both sides of colon may progress from microvesicular hyperplastic polyps via BRAF mutations, and some left-sided serrated adenomas develop via KRAS mutations. 相似文献
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Phillip J Whiley Christopher A Pettigrew Brooke L Brewster Logan C Walker kConFab Investigators Amanda B Spurdle Melissa A Brown 《BMC medical genetics》2010,11(1):80
Background
Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2. Evaluation of such unclassified variants may be assisted by web-based bioinformatic prediction tools, although accurate prediction of aberrant splicing by unclassified variants affecting exonic splice enhancers (ESEs) remains a challenge. 相似文献13.
Pseudomonas aeruginosa is an opportunistic pathogen of immunocompromised hosts. In cystic fibrosis (CF), P. aeruginosa causes acute and chronic lung infections that result in significant morbidity and mortality. P. aeruginosa possesses several traits that contribute to its ability to colonize and persist in acute and chronic infections. These include
high resistance to antimicrobials, ability to form biofilms, plethora of virulence products, and metabolic versatility. In
P. aeruginosa, a cell-to-cell communication process termed quorum sensing (QS) regulates many of these factors that contribute to its pathogenesis.
Recent evidence suggests that the CF lung environment presents a specialized niche for P. aeruginosa. The relationship of P. aeruginosa QS, biofilm formation, and the CF lung environment is discussed. 相似文献
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María del Rosario Robles James E. Loudon John M. Kinsella Mandala Hunter-Ishikawa David S. Miller Michelle L. Sauther Frank P. Cuozzo 《Acta parasitologica / Witold Stefański Institute of Parasitology, Warszawa, Poland》2010,55(3):270-275
Lemuricola (Madoxyuris) bauchoti Chabaud, Brygoo et Petter, 1965 is redescribed from material collected from the ring-tailed lemur, Lemur catta, from the Beza Mahafaly Special Reserve in Madagascar using the scanning electron microscope. This is a new host record and
the first oxyurid reported from the ring-tailed lemur. Previously, records of each species of the subgenus Madoxyuris have been restricted to a single host species, but the close relationship between these nematodes and their Strepsirrhini
hosts will only be proven when additional records fill in the gaps in their distribution. 相似文献
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Bilen MF Pilloff MG Belaich MN Da Ros VG Rodrigues JC Ribeiro BM Romanowski V Lozano ME Ghiringhelli PD 《Virus genes》2007,35(3):549-562
We have located and cloned the Anticarsia gemmatalis multicapsid nucleopolyhedrovirus isolate 2D (AgMNPV-2D) genomic DNA fragment containing the immediate early 1 ORF and its flanking regions. Computer assisted analysis of the complete ie1 locus nucleotide sequence information was used to locate regulatory signals in the upstream region and conserved nucleotide and
amino acid sequences. Comparative studies led to the identification of several characteristic protein motifs and to the conclusion
that AgMNPV-2D is more closely related to Choristoneura fumiferana defective NPV than to other Group I nucleopolyhedrovirus. We have also shown that the AgMNPV IE1 protein was able to transactivate an early Autographa californica MNPV promoter and its own promoter in transient expression assays. In order to investigate the biological functionality of
the ie1 promoter, the ie1 upstream activating region (UAR) was molecularly dissected and cloned upstream of the E. coli
lacZ ORF. The results obtained, after transfection of UFL-AG-286 insect cells, leading us to find that the −492 and −357 versions
contains sequence motifs important for the level of the lacZ reporter gene expression.
Electronic supplementary material The online version of this article (doi: ) contains supplementary material, which is available to authorized users.
The GenBank accession number of the sequence reported in this paper is AF368905. 相似文献
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Emily Staples Beatriz Morillo-Gutierrez Jessica Davies Daniel Petersheim Michel Massaad Mary Slatter Dimitra Dimou Rainer Doffinger Scott Hackett Dinkantha Kumararatne James Hadfield Matthew D. Eldridge Raif S. Geha Mario Abinun James E. D. Thaventhiran 《Journal of clinical immunology》2017,37(5):415-418
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W. Bartchewsky M. R. Martini A. C. Squassoni M. C. Alvarez M. S. P. Ladeira D. M. F. Salvatore M. A. Trevisan J. Pedrazzoli M. L. Ribeiro 《European journal of clinical microbiology & infectious diseases》2009,28(6):591-597
The aim of the present study was to evaluate the influence of Helicobacter pylori on MLH1 and MGMT mRNA levels in patients with chronic gastritis and gastric cancer. The study included 217 patients, of which 26 were uninfected,
127 had chronic gastritis and were H. pylori-positive, and 64 had gastric cancer. Bacterial genotypes were evaluated by polymerase chain reaction (PCR), and the expression
levels of MLH1 and MGMT were determined by quantitative real-time PCR and immunohistochemistry. There was an association between infection with cagA, vacA s1m1 strains and gastric cancer development. When the gastric epithelium and associated inflammation were examined for expression
of MLH1 and MGMT, an overall increase in expression was observed. On the other hand, these levels decrease significantly among gastric cancer
patients. The loss of MLH1 and MGMT expression in gastric cancer patients suggests that it is not an early event in H. pylori-associated gastric carcinogenesis. 相似文献
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Repeat induced point mutation (RIP) is a gene silencing mechanism present in fungal genomes. During RIP, duplicated sequences
are efficiently and irreversibly mutated by transitions from C:G to T:A. For the first time, we have identified traces of
RIP in transposable elements of Aspergillus niger and Penicillium chrysogenum, two biotechnologically relevant fungi. We found that RIP in P. chrysogenum has affected a large set of sequences, which also contain other mutations. On the other hand, RIP in A. niger is limited to only few sequences, but literally all mutations are RIP-like. Surprisingly, RIP occurred only in transposon
sequences that have disrupted open reading frames in A. niger, a phenomenon not yet reported for other fungi. In both fungal species, we identified two sequences with strong sequence
similarity to Neurospora crassa RID. RID is a putative DNA methyltransferase and the only known enzyme involved in the RIP process. Our findings suggest
that both A. niger and P. chrysogenum either had a sexual past or have a sexual potential. These findings have important implications for future strain development
of these fungi. 相似文献