PPP2R5C (Protein Phosphatase 2 Regulatory Subunit B'Gamma)

The main aim is to explain why and how the different Houge-Janssens syndrome subtypes biochemically and clinically overlap, providing a framework for understanding new variants and new subtypes that will be found in the future. Hypothetically, small molecules that alleviate substrate blockade by affected B subunits or correct misfolding of affected A subunit, could represent treatment options, but these remain to be found.

Functional enrichment analysis revealed that several pathways were altered in tumour and immune cells. In conclusion, distinctive changes in gene expression patterns were observed as AK progressed to SCC.

Fecal SDC2, ADHFE1, and PPP2R5C gene methylation detection methods can serve as primary screening tools, supplemented by colonoscopy, to effectively detect colorectal cancer and precancerous lesions. This strategy may prove to be an effective approach for conducting large-scale colorectal cancer screening in average-risk populations.

This study provides comprehensive insights into the epigenetic landscape of NPC, underscoring the role of CpG methylation in tumour suppressor gene silencing. These findings pave the way for targeted therapies and highlight the need for region-specific approaches in NPC management.

The impact of ATM on secretory granules confirms previous ATM-null cerebellar transcriptome findings. This study provides the first link of A-T neural atrophy to growth cone collapse and aberrant microtubule dynamics.

Multitarget stool DNA testing is highly sensitive and specific for CRC detection in Thai individuals. This testing could represent as a viable non-invasive alternative to colonoscopy especially in settings where colonoscopy is less accessible or less accepted by patients.

These DMRs hold promise as biomarkers for CRC detection, offering promise for non-invasive CRC diagnosis. Further research is warranted to validate these findings in larger cohorts.

MGMT encodes a DNA repair enzyme, and PPP2R5C encodes the B56γ subunit of the PP2A tumour suppressor. Our results link heritable variation at these two loci with resection status in HGSOC.

B56α mRNA had stronger than predicted secondary structure at their 5' end, and the B56δ/γ splice variants had long regions of weaker than predicted secondary structure at their 5' end. The data suggest that B56α is expressed at relatively low levels as compared to the other B56 isoforms and that the B56δ/γ splice variant is expressed more highly than B56γ/γ.

Early detection biomarkers for LS cancers could reduce the needs for invasive screening and surgery. Methylated DNA markers previously identified in sporadic endometrial cancer and colorectal cancer discriminate between benign and cancer tissue in LS.

The results of this study verified that the methylation levels of SDC2, ADHFE1 and PPP2R5C in stool DNA were significantly increased in CRC patients. Combined detection of SDC2/ADHFE1/PPP2R5C methylation is a potential non-invasive diagnostic method for CRC and precancerous lesion screening.

Compared to a national CRC program implemented in Hubei Province between 2018 and 2019 using fecal immunochemical tests and CRC risk assessment questionnaires, current program showed a lower initial positive rate (4.4% vs. 17.4%), higher PPVs for CRC (1.3% vs. 0.08%) in the age-matched group, and a higher adherence rate for colonoscopy (71.3% vs. 18.2%). Conclusions Preliminary prospective evidence suggested that fecal DNA tests had promising diagnostic yield in population-based CRC screening, outperforming FIT/risk assessment questionnaire-based screening strategy.