Ask about this productRelated genes to: POLQ Blocking Peptide
- Gene:
- POLK NIH gene
- Name:
- DNA polymerase kappa
- Previous symbol:
- DINB1
- Synonyms:
- POLQ, DINP
- Chromosome:
- 5q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-08-11
- Date modifiied:
- 2016-10-05
- Gene:
- POLQ NIH gene
- Name:
- DNA polymerase theta
- Previous symbol:
- -
- Synonyms:
- POLH
- Chromosome:
- 3q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1999-04-15
- Date modifiied:
- 2016-10-05
Related products to: POLQ Blocking Peptide
Related articles to: POLQ Blocking Peptide
- Adaptive mutagenesis observed in colorectal cancer (CRC) cells upon exposure to EGFR inhibitors contributes to the development of resistance and recurrence. Multiple investigations have indicated a parallel between cancer cells and bacteria in terms of exhibiting adaptive mutagenesis. This phenomenon entails a transient and coordinated escalation of error-prone translesion synthesis polymerases (TLS polymerases), resulting in mutagenesis of a magnitude sufficient to drive the selection of resistant phenotypes. - Source: PubMed
Das AnubrataGkoutos Georgios VAcharjee Animesh - DNA methylation has its distribution influenced by DNA demethylation processes with the catalytic conversion of 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC). Myelodysplastic syndrome (MDS) has been associated with epigenetic dysregulation of genes related to DNA repair system, chronic immune response and cell cycle. - Source: PubMed
Publication date: 2020/11/24
Cavalcante Gabrielle MeloBorges Daniela Paulade Oliveira Roberta Taiane GermanoFurtado Cristiana Libardi MirandaAlves Ana Paula Negreiros NunesSousa Alceu Machadode Paula Dayrine SilveiraFilho Francisco Dário RochaMagalhães Silvia Maria MeiraRibeiro-Jr Howard LopesPinheiro Ronald Feitosa - Myelodysplastic syndromes (MDS) are a heterogeneous group of hematological malignancies characterized by dysplasias, ineffective hematopoiesis and risk of acute myeloid leukemia transformation. Approximately 90% of MDS patients present mutations in genes involved in various cell signaling pathways. Specialized DNA polymerases, such as POLN, POLI, POLK, POLQ, POLH, POLL and REV3L, insert a nucleotide opposite replication-blocking DNA lesions in an error-prone manner and, in this way, sometimes can actively promote the generation of mutation. For the best of our knowledge, has not been described the mutations of these genes in MDS. DNA target sequencing CDS regions of the REV3L gene was performed in a 58-year-old man diagnosed as High Risk Myelodysplastic Syndrome. The patient presented very low hemoglobin, increased number of blasts, karyotype:47,XY,+8[6]/47,XY,del(7)(q32),+8[7], no response to hypomethylating therapy (decitabine), all markers of poor prognosis. Target sequencing identified a mutation c.9253-6T>C REV3L (Substitution - intronic) with VAF (variant allele frequency)=16% considered pathogenic according to Functional Analysis through. Hidden Markov Models (FATHMM). This is the first evidence of REV3L mutation in MDS and, of utmost importance, associated with poor prognosis. - Source: PubMed
Publication date: 2020/06/27
Oliveira Roberta Taiane G deFrança Ivo Gabriel FJunior Howard L RRiello Giovanna B CBorges Daniela de PaulaCavalcante Gabrielle MeloMagalhães Silvia M MPinheiro Ronald F - DNA repair is a new and important pathway that explains colorectal carcinogenesis. This study will evaluate the prognostic value of molecular modulation of double-strand break repair (XRCC2 and XRCC5); DNA damage tolerance/translesion synthesis (POLH, POLK, and POLQ), and interstrand crosslink repair (DCLRE1A) in sporadic colorectal cancer (CRC). - Source: PubMed
Publication date: 2019/10/25
Laporte Gustavo ALeguisamo Natália MGloria Helena de Castro EAzambuja Daniel BKalil Antonio NSaffi Jenifer - While up to 25% of ovarian cancer (OVCA) cases are thought to be due to inherited factors, the majority of genetic risk remains unexplained. To address this gap, we sought to identify previously undescribed OVCA risk variants through the whole exome sequencing (WES) and candidate gene analysis of 48 women with ovarian cancer and selected for high risk of genetic inheritance, yet negative for any known pathogenic variants in either BRCA1 or BRCA2. In silico SNP analysis was employed to identify suspect variants followed by validation using Sanger DNA sequencing. We identified five pathogenic variants in our sample, four of which are in two genes featured on current multi-gene panels; (RAD51D, ATM). In addition, we found a pathogenic FANCM variant (R1931*) which has been recently implicated in familial breast cancer risk. Numerous rare and predicted to be damaging variants of unknown significance were detected in genes on current commercial testing panels, most prominently in ATM (n = 6) and PALB2 (n = 5). The BRCA2 variant p.K3326*, resulting in a 93 amino acid truncation, was overrepresented in our sample (odds ratio = 4.95, p = 0.01) and coexisted in the germline of these women with other deleterious variants, suggesting a possible role as a modifier of genetic penetrance. Furthermore, we detected loss of function variants in non-panel genes involved in OVCA relevant pathways; DNA repair and cell cycle control, including CHEK1, TP53I3, REC8, HMMR, RAD52, RAD1, POLK, POLQ, and MCM4. In summary, our study implicates novel risk loci as well as highlights the clinical utility for retesting BRCA1/2 negative OVCA patients by genomic sequencing and analysis of genes in relevant pathways. - Source: PubMed
Publication date: 2017/06/07
Stafford Jaime LDyson GregoryLevin Nancy KChaudhry SophiaRosati RitaKalpage HasiniWernette CourtneyPetrucelli NancieSimon Michael STainsky Michael A