Ask about this productRelated genes to: MSH2 antibody
- Gene:
- MSH2 NIH gene
- Name:
- mutS homolog 2
- Previous symbol:
- COCA1
- Synonyms:
- HNPCC, HNPCC1
- Chromosome:
- 2p21-p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 1993-07-28
- Date modifiied:
- 2019-04-23
Related products to: MSH2 antibody
Related articles to: MSH2 antibody
- AdrenoCortical Carcinoma (ACC) is an aggressive, rare and heterogenous malignancy, that requires diverse preclinical models. For this reason, the development of new cell lines is pivotal. Here we describe the development and characterization of two of them, SMAC-2 and SMAC-3, established from surgical specimens of ACC patients. The characterization included their mutational profiling, the evaluation of steroidogenic enzymes expression, secretory activity and the expression of steroid hormone receptors. The proliferative ability of these cells within a zebrafish embryos xenograft was also evaluated. SMAC-2 originated from a metastatic EDP-M-treated ACC in a female patient with hypercortisolism and hyperandrogenism, while SMAC-3 derived from a male patient with a mitotane-treated local recurrence, with no sign of hypercortisolism. TP53 was mutated in both lines. SMAC-2 cells were characterized by a pathogenic alteration on CTTNB1 gene and a deletion of CDKN2A gene, while SMAC-3 on MSH2 gene. Basal hormonal status analysis showed a cell model-specific fingerprint either in the hormonal secretion and gene and protein expression of steroid hormone receptors. SMAC-2 secreted high levels of cortisol. SMAC-3 secreted low basal level of cortisol. Mitotane displayed in both cell lines a low potency. Under the experimental conditions used, the xenografted area did not increase for both cell models. Experiments were carried out to study the stability of the two cell lines. SMAC-2 and SMAC-3 display unique molecular and functional features, expanding the repertoire of experimental ACC models and representing valuable tools for preclinical research alongside established cell lines. - Source: PubMed
Publication date: 2026/05/04
Abate AndreaTamburello MariangelaBonera ClaudiaMassimo Tiberio Guido AlbertoBaldelli SaraCarini MattiaInglesi AlessiaScatolini MariaCosentini DeborahLaganà MartaLeporati MartaPoliani Pietro LuigiCosseddu DomenicoBrugnoni DuilioBerruti AlfredoSigala Sandra - This study aimed to investigate Lynch Syndrome (LS)-related germline variants among Southern Thai patients with colorectal cancer (CRC) and other LS-associated cancers who met the revised Bethesda guidelines. A total of 132 probands suspected of LS underwent whole genome sequencing (WGS). Eleven germline variants including pathogenic variants (PVs), likely pathogenic variants (LPVs), and potential variants of uncertain significance (VUSs) in DNA mismatch repair (MMR) genes were identified in twenty-six individuals (20%). Among these, six PVs/LPVs/VUSs were detected in MLH1, three in MSH2, and two in PMS2. Notably, the MSH2 c.1237C > T PV was detected in ten probands who were determined to share a common ancestry. Subsequent targeted sequencing of 56 relatives revealed fifteen additional carriers, four had already developed CRC or ampullary cancer, while colonoscopy surveillance detected polyps in two others. The benefit-cost ratio (BCR) analysis demonstrated the greater cost-effectiveness of genetic testing compared to endoscopic surveillance to all relatives at risk. Although our cohort is clinically enriched and does not reflect the population prevalence of LS in Southern Thailand, these findings highlight the substantial LS burden within high-risk families and underscore the importance of incorporating genetic screening, counseling, and tailored surveillance strategies into clinical practice. - Source: PubMed
Publication date: 2026/05/11
Wanitsuwan WorrawitKanjanapradit KanetJearanai SupakoolSuphasynth YuthasakSupaattagorn PongsatornVijasika SukanyaWanram SurasakNgamphiw ChumpolNakhonsri VorthunjuTongsima SissadesSatsue PalakornSangkeaw NatnareeHorpaopan Sukanya - This study provides a molecular characterization of precancerous colorectal lesions in Lynch syndrome (LS) carriers to assess the preventive potential of Nous-209 immunotherapy against colorectal cancer development. A total of 50 adenomas and 12 advanced adenomas (AA) were collected from 26 LS carriers with pathogenic variants in either MLH1 or MSH2. Molecular analyses included assessment of mismatch repair (MMR) status, microsatellite instability (MSI), and detection of mutations targeted by Nous-209. We found that 83% of AAs and 58% of adenomas were MMR-deficient (dMMR). Notably, although all dMMR AA were MSI-high (MSI-H), only 66% of dMMR adenomas showed MSI-H. The presence of Nous-209 mutations correlated strongly with MSI status, with mutation counts ranging from 15 to 57 in dMMR/MSI-H lesions. dMMR adenomas classified as MSI-low carried a limited number of mutations (6-19), whereas microsatellite-stable lesions harbored very few (0-2) Nous-209 mutations, regardless of MMR proficiency. These findings confirm the molecular heterogeneity of precancerous lesions and support the potential of Nous-209 immunotherapy to prevent MSI colorectal cancer in LS by targeting the adenoma-carcinoma sequence at the time of MSI acquisition. - Source: PubMed
Publication date: 2026/05/11
Micarelli ElisaDe Marco LorenzoSpaggiari PaolaD'Alise Anna MorenaDal Buono AriannaMenini MaddalenaGiatti ValentinaD'Aprano AlessandroScarselli ElisaHassan CesareRepici Alessandro - Plants synchronize metabolism with the day-night cycle, yet the interplay between circadian rhythms and nitrogen metabolism in leafy vegetables remains unexplored. We profiled spinach (Spinacia oleracea L.) grown under high-nitrogen and low-nitrogen during four diel phases (end of dark, middle of light, end of light, middle of dark), integrating data from RNA-sequencing with measurements of gas exchange, chlorophyll fluorescence, nitrogen forms, amino acids, and enzyme activities. Nitrogen sufficiency enhanced biomass, CO assimilation, chlorophyll content, and photosynthetic efficiency, with maxima in the middle of the light phase. Transcriptome analysis revealed that the greatest gene reprogramming occurred at the dark-to-light transition, where the expression of the morning oscillator component LHY peaked and coincided with the accumulation of dawn-biased nitrate-assimilation transcripts (NIA and NiR) and transporters. Peaks enzyme activities lagged transcript peaks by nearly one phase, suggesting transcriptional priming followed by daytime nitrogen assimilation, aligned with photosynthetic energy and carbon skeleton synthesis. Amino acid profiles reflected this coordination, with glutamine elevated during the day and glutamate enriched at night. Nitrogen deficiency suppressed growth, caused accumulation of reactive oxygen species, and activated circadian-regulated DNA repair genes (e.g., MSH2 and RPA2A, indicating genotoxic stress. Together, these findings support a model in which a diel/clock program, amplified by nitrogen sufficiency, gates nitrogen transport and reduction at dawn to couple daytime assimilation with photosynthesis while adjusting oxidative and DNA repair responses. This mechanistic framework clarifies how temporal regulation and nutrient status interact to shape nitrogen use efficiency and stress resilience in leafy vegetables. - Source: PubMed
Publication date: 2026/05/07
Analin BenedictJoshi Vijay - To explore uptake of risk-reducing gynecologic surgery in a diverse patient population with Lynch syndrome. - Source: PubMed
Publication date: 2026/05/07
Waggoner Rebecca MRicker Charité NNie QiGuo X MonaComeaux Jacob GChang Emmeline YGutierrez NataliaHernandez DaisyNguyen AveriGarcia IvanIto FumitoBrunette Laurie LRoman Lynda DSpicer DarcyCulver Julie O