PMS2 (PMS1 protein homolog 2)

Six PMS2 variants were associated with either early or later-onset CMMRD. Future validation through larger prospective cohort studies is necessary to confirm our findings and better understand the natural history of PMS2-CMMRD to inform clinical decision-making in PMS2-Lynch syndrome (PMS2-LS).

These data highlight the importance of dMMR testing in patients with advanced solid tumors in China to optimize biomarker testing and treatment decisions.

IHC testing can discriminate between sporadic and MTS-associated sebaceous neoplasms, but diagnostic utility is limited by low specificity. Most MMR-deficient cases are not due to MTS.

In the studied population, dMMR tumors more frequently exhibited adverse prognostic features of EC, such as advanced stage of disease and lymphovascular space invasion. This suggests the potential for effective immunotherapy in this patient group.

Updated testing enabled more accurate diagnoses and personalized surveillance recommendations as well as identification of at-risk relatives. Given the improved diagnostic yield, it is crucial to consider genetic testing for individuals with unexplained polyposis who have previously undergone limited testing, due to small gene lists and/or outdated technology, ensuring alignment with current standards.

Most cases lack germline MMR mutations in normal tissues but harbor somatic MMR mutations in tumor tissues. Germline or somatic mutations in other genes related to MMR function may be observed in some cases.

Only 30 cases of NETs in LS have been described in the literature, most of them of gastrointestinal origin. We describe the first bronchopulmonary NET in a patient with LS, broadening the spectrum of LS tumours, and the first ACTH-producing tumour in LS.

The new deep-learning model accurately identified MMR status using macroscopic specimen images and showed potential for MMR screening among CRC patients, particularly in a rapid-response scenario.

This study provides critical insights for clinical guidelines on the associations between cancer types, age at diagnosis, and carrier frequency.

Our findings demonstrate that MSH2 LGRs occur at a notable frequency among Pakistani CRC patients, with a recurrent 5' upstream deletion representing a potential Punjabi founder variant. Inclusion of this deletion into targeted genetic testing panels may enhance diagnostic yield and improve risk stratification for CRC in Pakistan.

Our study shows upregulated CAIX in lymph-node metastasis frequently occurs in aggressive and highly proliferative tumors. However, none of the examined biomarkers could predict nodal response to therapy. Further research is necessary to better identify patients most likely to achieve nodal response through neoadjuvant chemotherapy.

P=N/A, N=150, Not yet recruiting, Centre Hospitalier Universitaire de Nīmes | Trial completion date: Dec 2026 --> Dec 2027 | Initiation date: Sep 2025 --> Dec 2025 | Trial primary completion date: Mar 2026 --> Nov 2026