MSH6 (MutS homolog 6)

Tumor sequencing confirmed both germline variants but showed microsatellite stability and no loss of heterozygosity, arguing against a causal role of MSH6. This case illustrates how PRS, in combination with moderate-risk variants, like those in CHEK2, may drive early-onset MBC and highlights the need to incorporate polygenic models into risk assessment and counseling.

This study identifies a proteomics-derived multi-omics signature associated with platinum resistance and prognosis in OC and highlights MSH6 as a candidate marker linked to chemoresistant and immune-related features. Further mechanistic and clinical validation is needed.

Our hypothesis-generating findings suggest that dMMR/MSI-H may serve as a biomarker of sensitivity to single-agent ICIs in advanced UTUC. External validation in larger, ideally prospective, studies is needed to confirm the effectiveness and durability of immune checkpoint blockade in this molecular subgroup.

Combined loss of MSH6 and PMS2 (MSI-H) was found in 30% of cases, particularly in poorly differentiated tumors, T3 stage tumors, stage II and III cancers, and node-positive groups. Thus, understanding of microsatellite instability (MSI) detection in colorectal carcinomas (CRCs) using immune histochemical markers MSH6 and PMS2, improving diagnostic and prognostic approaches for CRC.

Identifying high-risk individuals is crucial for effective genetic counseling, testing, and potential screening programs to facilitate early diagnosis and improve outcomes. Future research should prioritize large prospective cohorts, screening programs, and the integration of emerging technologies, such as AI-assisted imaging.

These findings suggest that a small subset of non-syndromic PTC cases may carry germline PVs/LPVs in cancer predisposition genes, highlighting the need for broader genetic screening frameworks. Unbiased whole-exome analysis in unselected cohorts can uncover under-recognized genetic risk and guide screening strategies to address the unique hereditary landscape of thyroid cancer in underrepresented populations.

A composite score integrating p53 binary status (aberrant vs. wild) with Wnt3 and whole β-CTN indices predicted survival beyond stage; each 1-point increase conferred a 2.56- and 1.77-fold higher risk of cancer-specific and overall mortality (p = 0.004 and 0.04). These findings suggest that p53 dysfunction is associated with alterations in Wnt/β-CTN signaling and that integrating signaling markers with staging may improve prognostic assessment in colorectal cancer.

Notably, the presence of MMRd subtype in such synchronous tumors does not inherently indicate Lynch syndrome. This case underscores the importance of integrating molecular testing and clinical manifestations to accurately diagnose multiple primary malignancies and formulate tailored treatment plans.

Genetics has been shown to affect several aspects of disease, including carcinogenesis, onset age, clinicopathological features, prognosis, and therapy response. In this review, we will investigate the impact of germline PVs in different genes on genetic susceptibility to the development of inherited EC, discussing the potential cancer risk in mutation carriers as well as prognostic implications and current therapeutic approaches, also evaluating the possibility of carrying out a more extensive routine genetic analysis for EC women, in order to increase the diagnostic power, improve prevention and surveillance strategies in genetically predisposed subjects, and implement tailored therapies.

P2, N=51, Recruiting, First Affiliated Hospital of Zhejiang University | N=102 --> 51

To our knowledge, this is the first report of appendiceal GCA with dMMR and MSI-high status. Our findings underscore the necessity of incorporating MMR/MSI testing into the diagnostic workup of rare tumors such as GCA, particularly in young patients or those with a family history suggestive of Lynch syndrome, to optimize personalized treatment strategies.

dMMR status, especially dMutL, might be associated with clinicopathologic characteristics, which might support decision-making in clinical practice. These findings require validation in larger cohorts but may inform clinical screening practices in resource-limited settings.