Ask about this productRelated genes to: EPM2AIP1 antibody
- Gene:
- EPM2AIP1 NIH gene
- Name:
- EPM2A interacting protein 1
- Previous symbol:
- -
- Synonyms:
- KIAA0766, FLJ11207
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-03-26
- Date modifiied:
- 2016-10-05
Related products to: EPM2AIP1 antibody
Related articles to: EPM2AIP1 antibody
- Mismatch repair (MMR) status in endometrial carcinoma (EC) is crucial for diagnosis, prognosis, treatment, and Lynch syndrome pre-screening. MLH1 loss is the most frequent cause of MMR deficiency and usually by promoter hypermethylation. We tried to confirm the role of EPM2 AIP1 immunohistochemistry as a surrogate of MLH1 promoter methylation in EC. Case series from two different institutions were analyzed by comparable methods using immunohistochemistry for MMR proteins and EPM2 AIP1, and pyrosequencing for MLH1 methylation. In the first series of 70 cases, concordance was 100%, after reassessing three cases with methylation scores close to cut-off, by tumor cell enrichment. In the second series of 29 MLH1-deficient ECs, concordance was 96.5%, while in the control group of 30 MMR-proficient EC, one MLH1-positive case was EPM2 AIP1-negative. EPM2 AIP1 immunoreactivity was qualitatively superior in curettages and biopsies compared to hysterectomy. We conclude that EPM2 AIP1 immunohistochemistry is a good surrogate for MLH1 promoter methylation analysis, cost-effective with short turnaround time, but needs attention regarding preanalytical handling, normal tissue contamination, or low tumor percentage. - Source: PubMed
Publication date: 2025/06/05
Gatius SoniaVaquero MartaScheiber OliverVelasco AnaCuevas DolorsKashofer KarlSantacana MariaEritja NúriaLax SigurdMatias-Guiu Xavier - Disulfidptosis is a new type of regulatory cell death (RCD), but the pathophysiological functions and mechanisms of DRGs in CESC remain to be examined. - Source: PubMed
Kang MinJiang ShaChen HuihuiXu YouhuaMo Hui - MLH1 promoter hypermethylation (MPH) analysis is an essential step in the universal tumor testing algorithm for Lynch syndrome, the most common inherited predisposition to colorectal cancer (CRC). MPH usually indicates sporadic CRC. EPM2AIP1 gene shares the same promoter as MLH1, therefore MPH should also silence EPM2AIP1 transcription leading to loss of protein expression on immunohistochemistry (IHC). It has been previously reported that EPM2AIP1 IHC can be used as a surrogate for MPH in endometrial cancer. Our goal was to evaluate the feasibility of EPM2AIP1 IHC as a surrogate for MPH in CRC. 101 microsatellite instable CRC cases were selected, including 19 cases from whole tumor sections and 82 cases from tissue microarrays. 74 cases were with MPH and 27 without MPH. All 74 cases with MPH showed absent MLH1 by IHC, but only 47 (64%) exhibited loss of expression of EPM2AIP1. Of the 27 cases without MPH, 9 (33%) cases had unexpected loss of EPM2AIP1 expression. Of note, 10 cases were MLH1-mutated Lynch syndrome without MPH, and 2 of these cases showed unexpected loss of EPM2AIP1 staining. Of the 6 cases with double somatic mutations of MLH1 gene (without MPH), only 4 cases demonstrated intact expression of EPM2AIP1 as expected. Taken together, EPM2AIP1 loss was 64% sensitive and 67% specific for MPH, with an accuracy of 64%. We conclude that, unless stain quality improves with different clones or platforms, EPM2AIP1 IHC will likely not be useful as a surrogate test for MPH in CRC. - Source: PubMed
Publication date: 2024/06/28
Challa BinduFrankel Wendy LKnight DeborahPearlman RachelHampel HeatherChen Wei - The efficacy of pembrolizumab in patients with microsatellite instability (MSI)-high cancers has been reported; however, the differences in efficacy according to the subtypes of MSI-high endometrial cancers (ECs) remain unclear. MSI-high ECs are classified into at least 3 groups based on their molecular characteristics: hypermethylated, Lynch-like syndrome (LLS)-associated, and Lynch syndrome (LS)-associated cancers. This study aimed to investigate whether the efficacy of pembrolizumab differs among these 3 groups, and if so, whether EPM2AIP1 immunohistochemistry (IHC), which correlates with promoter methylation, can be used to rule out methylation cases. - Source: PubMed
Publication date: 2024/05/01
Ozawa RisakoNishikawa TadaakiYoshida HiroshiShiraishi KouyaShimoi TatsunoriKato TomoyasuYonemori Kan - Combining genome assembly with population and functional genomics can provide valuable insights to development and evolution, as well as tools for species management. Here, we present a chromosome-level genome assembly of the common brushtail possum (Trichosurus vulpecula), a model marsupial threatened in parts of their native range in Australia, but also a major introduced pest in New Zealand. Functional genomics reveals post-natal activation of chemosensory and metabolic genes, reflecting unique adaptations to altricial birth and delayed weaning, a hallmark of marsupial development. Nuclear and mitochondrial analyses trace New Zealand possums to distinct Australian subspecies, which have subsequently hybridised. This admixture allowed phasing of parental alleles genome-wide, ultimately revealing at least four genes with imprinted, parent-specific expression not yet detected in other species (MLH1, EPM2AIP1, UBP1 and GPX7). We find that reprogramming of possum germline imprints, and the wider epigenome, is similar to eutherian mammals except onset occurs after birth. Together, this work is useful for genetic-based control and conservation of possums, and contributes to understanding of the evolution of novel mammalian epigenetic traits. - Source: PubMed
Publication date: 2023/10/17
Bond Donna MOrtega-Recalde OscarLaird Melanie KHayakawa TakashiRichardson Kyle SReese Finlay C BKyle BruceMcIsaac-Williams Brooke ERobertson Bruce Cvan Heezik YolandaAdams Amy LChang Wei-ShanHaase BettinaMountcastle JacquelynDriller MaximilianCollins JoannaHowe KerstinGo YasuhiroThibaud-Nissen FrancoiseLister Nicholas CWaters Paul DFedrigo OlivierJarvis Erich DGemmell Neil JAlexander AlanaHore Timothy A