PMS2 (PMS1 protein homolog 2)

In this Portuguese cohort, nearly 12% of consecutive real-world MGPT-tested gastric cancer patients had germline pathogenic or likely pathogenic variants, predominantly in mismatch repair genes but also in CHEK2 and BLM. These findings further illustrate the heterogeneity of hereditary gastric cancer beyond classical CDH1 mutations and support the integration of MGPT into clinical care to identify at-risk individuals not captured by current criteria. Larger multicentre studies are warranted to validate these results and clarify the role of emerging susceptibility genes.

However, differences in TIL rate and CD45RO expression indicate that each of the SGT tumor types may have distinguished immune microenvironments. Malignant SGTs have higher infiltration of activated immune cells, and, thereby, these cells can be considered as good indicators of patient's status.

We also highlight the added value of complementing DNA-only testing with RNA and tumor sequencing. Furthermore, we explore LRS-based approaches and discuss opportunities for their implementation in routine genetic testing for hereditary cancer.

Our data thus suggest that p.(Asp286Gly) and p.(Arg799Trp) are benign, while the tumor risk in the other two variants remains to be established. Taken together, we suggest roadmaps for the individualized evaluation of difficult uncertain variants by comprising information from all available sources.

Our study classified the clinicopathological features between sporadic CRC patients and LS patients. More importantly, the molecular profiling of the MMR gene germline variant was experimentally elucidated, which deepens the knowledge of MMR genes and provides a new perspective for the subsequent studies on the landscape of germline variants of Chinese LS patients.

In this retrospective, single-center cohort, dual assessment of MMR status by IHC and PCR was associated with near-perfect inter-method agreement and reduced the likelihood of technical misclassification. These findings support the practical value of reflex retesting as a quality-assurance step within a workflow-oriented diagnostic strategy.

Improving adherence and endoscopic quality, considering adjunctive techniques (eg, faecal immunochemical testing between surveillance intervals, chromoendoscopy/AI (artificial intelligence) assistance), and exploring complementary strategies (eg, aspirin chemoprevention, biomarker-guided risk) are priorities. This narrative review synthesises current evidence, highlighting the need for robust future studies to optimise patient surveillance.

The yield of MGPT in Israel, after exclusion of predominant founder PSVs, was modest. The identification of recurring PSVs warrants further investigation and potential inclusion in updated first-pass genotyping schemes.

Thus, dedicated HCCs could improve early detection and intervention of premalignant and malignant skin lesions. Additional studies that include a larger number of minority patients are required to confirm these findings.

MMR genes, especially MSH2, are critical in STAD development and prognosis. The image-based model effectively predicts MSH2 expression, supporting the integration of genomic and histopathologic data for personalized GC care.

We represent a molecularly validated case of dMMR duodenal adenocarcinoma, suggesting a somatic molecular pathogenesis distinct from classic intestinal cancer. The findings highlight the critical importance of comprehensive molecular characterization in rare tumors, as accurate identification of these phenotypes are important for optimal treatment selection, particularly immune checkpoint inhibitor therapies for gastrointestinal malignancies.

We propose with a review of case in the literature an algorithm for investigating LS upon discovering a GBM. These exploratory results need to be confirmed by a larger cohort.