MLH1 Mouse Monoclonal Antibody
- Known as:
- MLH1 Mouse Monoclonal Antibody
- Catalog number:
- BIN-004292-M02
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Zyagen
- Gene target:
- MLH1 Mouse Monoclonal Antibody
Related genes to: MLH1 Mouse Monoclonal Antibody
- Gene:
- MLH1 NIH gene
- Name:
- mutL homolog 1
- Previous symbol:
- COCA2
- Synonyms:
- HNPCC, FCC2, HNPCC2
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-11-24
- Date modifiied:
- 2019-04-23
Related products to: MLH1 Mouse Monoclonal Antibody
Related articles to: MLH1 Mouse Monoclonal Antibody
- Lynch syndrome is an inherited autosomal dominant disease that predisposes to a broad spectrum of malignancies. This condition is driven by a germline pathogenic variant in one or more of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2, EPCAM) that results in genomic microsatellite instability (MSI-high). However, microsatellite-stable (MSS) tumors in Lynch syndrome patients may occur, but the relevant literature is scant. Our aim is to systematically identify, organize, and characterize the comprehensive available literature for Lynch syndrome-associated gynecological cancers (vulvar, vaginal, cervical, ovarian, endometrial) exhibiting a dMMR/MSS phenotype. Systematic review of the literature. Three medical databases, major related conferences and relevant oncology journals were scrutinized for relative evidence. Eleven reports were identified comprising 2351 patients, 774 had confirmed Lynch syndrome (LS), of whom MSI results were available for 299 patients. In total, 130 patients developed LS-associated gynecological cancers, for whom MSI results were available. Among them, 36 tumors (27.7%) exhibited a dMMR/MSS molecular phenotype (23 endometrial, 12 ovarian, one synchronous endometrial-ovarian). No data for vulvar, vaginal, or cervical cancers were found. For dMMR/MSS endometrial cancers, the mean age at diagnosis was 50.5 years (range 36-62). dMMR/MSS tumors arose predominantly in MSH6 and, to a lesser extent, PMS2 carriers. No data on selective response to immune checkpoint inhibitors treatment were available. Lynch syndrome-associated gynecological cancers with dMMR/MSS phenotype are strongly underrepresented in the literature. Endometrial and ovarian cancers with dMMR/MSS phenotype are early onset and arise in a small proportion of patients. Better characterization is demanding to unearth whether response to immunotherapy treatment vary across Lynch dMMR/MSS and dMMR/MSI-High phenotypes. - Source: PubMed
Publication date: 2026/06/26
Koktsidis GeorgiosMauri DavideElemes StylianosSaloustros EmmanouilPolychronidou GenovefaLazaridis GeorgiosDionysopoulos DimitriosPapaioannou AnnaTimotheadou Eleni T - HCT116 is a colorectal cancer cell line frequently used in anti-tumor drug development experiments as well as in studies of the molecular machinery of eukaryotic cells. It is well characterized by the presence of several single-nucleotide and short mutations in multiple oncogenes and tumor suppressor genes, including , , , , , , and . However, its landscape of large genomic rearrangements (LGRs) and copy number variants (CNVs) is still far from being fully understood. Therefore, the aim of this study was to identify LGRs and CNVs in several HCT116 cell line samples using Oxford Nanopore sequencing technology, including three samples from the SRA NCBI database, and to compare common and unique variants across all samples. Using the recently developed eLaRodON tool, we identified 22,666 common LGRs, among which more than 70% of tandem duplications and deletions larger than 80 kb were confirmed by CNV analysis. Among LGRs affecting protein-coding sequences, two in-frame rearrangements were identified: a deletion of exons 4-6 and a duplication of exon 10 in the gene, which encodes a cell division regulator protein. Given its high rearrangement rate in various tumors and the clinical significance of its overexpression, this finding may be potentially useful in future research on this cell line. Regarding differences between samples, we found that LGRs in the laboratory sample and in one of the three SRA NCBI samples occurred more frequently via ALR/Alpha repeats than via Alu repeats, in contrast to common LGRs and those unique to the other samples, a finding that may indicate the presence of unique mechanisms of genomic instability. Thus, this study reveals a broad spectrum of large genomic rearrangements and copy number variants that can be identified in the HCT116 cell line using Oxford Nanopore sequencing, including rearrangements specific to distinct cell line samples. - Source: PubMed
Publication date: 2026/06/26
Mikheeva ReginaLeonov PavelKoryukov MaksimRuleva EkaterinaKarabut EkaterinaKechin Andrey - It is not established whether melanoma and lung cancer are part of the tumor spectrum of the Lynch syndromes (LS). Our first hypothesis was that, if melanoma is associated with LS, most prospectively observed cases would be carriers of pathogenic MSH2 variants (), as for other LS non-endodermal tumors. Our second hypothesis, which was derived from findings of the first study, was that the pattern of differences in the incidence of lung cancer in carriers would mirror that for melanoma. We used the Prospective Lynch Syndrome Database (PLSD) data and methods. Firstly, consistent with hypothesis, ten of 3154 carriers followed for 26,309 years developed melanoma, compared with 6 of 5288 carriers followed for 45,081 years ( = 0.04). Secondly, although the incidence of melanoma in carriers of was 0.00041-similar to the populations in which the carriers resided-the average incidence rates for carriers was 0.00012, than the corresponding population rates. Thirdly, the average lung cancer incidence rates in PLSD were 0.00112 in carriers and 0.00032 in carriers ( = 0.02), both than the population rates. Melanomas and lung cancers-both of which are immunogenic through mechanisms independent of mismatch repair deficiency-may become even more immunogenic when they also exhibit microsatellite instability. This may lead to an increased likelihood that both tumors are eliminated by the immune system and, thus, show variable and lower incidence. These insights may help inform strategies for cancer prevention or treatment that are aimed at simultaneously interrupting multiple carcinogenic pathways. - Source: PubMed
Publication date: 2026/07/07
Potter John DMacrae Finlay ASampson Julian RHaupt SaskiaSeppälä Toni TCameron-Mackintosh SineadAhadova AyselKloor MatthiasMøller PålPlsd Collaborators - Colorectal neoplasia outcomes in Lynch syndrome are heterogeneous and limited by inconsistently reported quality metrics, while benchmarks for neoplasia detection rates remain undefined. This systematic review and meta-analysis evaluated neoplasia detection rates in Lynch syndrome and assessed demographic, genotype, and risk factors for neoplasia development. - Source: PubMed
Publication date: 2026/07/13
Poo Stephanie Xiu WernDai NickCross Amanda JMonahan Kevin J - The multifaceted oncogenic role of teratocarcinoma-derived growth factor 1 (TDGF1) in colon cancer remains incompletely understood. Through integrative bioinformatic and functional analyses, we identified a novel competing endogenous RNA (ceRNA) axis wherein the long non-coding RNA OLMALINC directly sponges hsa-miR-3614-5p, leading to the derepression of TDGF1. This OLMALINC/miR-3614-5p/TDGF1 axis promoted colon cancer cell proliferation, migration, invasion, and anti-apoptosis in vitro, whereas TDGF1 knockdown significantly suppressed tumor growth in vivo. Mechanistically, TDGF1 co-activated oncogenic signaling via the Thr88-dependent Nodal/Smad2 cascade and the Glypican-1-mediated MAPK/AKT pathway. Beyond cell-autonomous effects, transcriptomic and single-cell analyses revealed that elevated TDGF1 correlates with an immunosuppressive microenvironment, characterized by reduced immune infiltration and altered LGALS9-CD44 malignant-T cell communication. Clinically, high TDGF1 expression in a tissue microarray cohort was significantly associated with advanced T stage, reduced expression of specific mismatch repair proteins (MLH1/PMS2), and poor overall survival. Collectively, this study delineates the OLMALINC/miR-3614-5p/TDGF1 regulatory circuit and establishes TDGF1 as a multifaceted driver of tumor progression, highlighting its potential as a prognostic biomarker and therapeutic target in colon cancer. - Source: PubMed
Publication date: 2026/06/23
Gao FengLi XiaoliLi JiaweiYang ShuoZhang BoyuSun YingZheng LihuaWang GuannanLiu LeiBao YongliYang Xiaoguang