APC (APC Regulator Of WNT Signaling Pathway)

P=N/A, N=1000, Recruiting, Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) | Trial completion date: Nov 2025 --> Nov 2027 | Trial primary completion date: Nov 2025 --> Nov 2026

Overall, this case highlights the phenotypic variability and diagnostic challenges associated with noncoding APC mutations and underscores the importance of including distal regulatory regions in genetic testing panels for patients with FAP lacking coding-region mutations. Further research is required to elucidate the exact molecular mechanisms and broader clinical implications of these noncoding variants.

In this exploratory analysis, we found that Black men have improved survival in the first line mCRPC setting with ARPI therapy, but that SPOP mutations do not explain these differential outcomes despite improved short term PSA declines. Thus, other factors may explain the disparity in outcomes we confirmed in men with CRPC.

Adherence to an anti-inflammatory dietary pattern is significantly associated with improved metabolic, inflammatory, molecular, and gut microbiota profiles, all of which are linked to colorectal cancer risk. These findings support anti-inflammatory dietary strategies as cost-effective and non-invasive approaches for colorectal cancer prevention and adjunctive management.

P2, N=18, Terminated, Recursion Pharmaceuticals Inc. | N=60 --> 18 | Trial completion date: Jan 2027 --> Feb 2025 | Active, not recruiting --> Terminated | Trial primary completion date: Jan 2027 --> Feb 2025; Study was terminated due to sponsor decision. This decision was not related to safety concerns.

Persons who have a more pro-inflammatory lifestyle may have an increased recurrence risk (IRR 1.21, 95% CI 0.97-1.52), which was most pronounced for persons with MSS and KRAS or PIK3CA wildtype tumours (IRR 1.31, 95% CI 0.90-1.90 and IRR 1.30, 95% CI 0.98-1.71, respectively). Our results suggest that associations between the LIS and recurrence might differ based on molecular tumour characteristics.

P=N/A, N=77, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Feb 2026 --> Feb 2027 | Trial primary completion date: Feb 2026 --> Feb 2027

Eighty-three percent of CR-NEC received first-line platinum-etoposide, while 98% of CR-AC patients received first-line fluorouracil-based chemotherapy. Metastatic CR-NEC and CR-AC are clinically distinct, with NEC demonstrating more aggressive features, limited treatment effect, and worse prognosis. Although they share important driver mutations, the underlying reason for their marked clinical differences remains unclear.

Differentiated thyroid carcinoma in children is characterized by a number of clinical and molecular genetic features, which determines the need for a specialized multidisciplinary approach to their management. The high risk of malignancy in nodules, frequent regional dissemination and peculiarities of the molecular profile argue for the necessity of early diagnosis, integration of molecular testing and personalized choice of the volume of surgical intervention in the conditions of specialized centers.

An exploratory approach consisting of unmasking the results of the NGS analysis of 123 « research » genes involved in the carcinogenesis was applied to the 447 patients tested negative for the different genes of our diagnostic panel. This approach failed to identify other susceptibility genes to pancreatic adenocarcinoma.

The APC gene variant (NM_000038.6: c.1620_1624delinsT) exhibits a dual transcriptional effect, revealing its pathogenic role in AFAP. This study highlights the diagnostic value of combined DNA-RNA germline testing for improving the clinical classification of novel APC gene variants and their genotype-phenotype correlations in FAP.

Genetic interactions based on co-occurring mutations identified cell lines representative of particularly aggressive subtypes of CRC, including concurrent BRAF p.V600 and truncating APC mutations, as well as APC/TP53/RAS triple mutations with double hits of APC. This study provides a resource to guide the selection of cell lines for functional studies of CRC, and detailed mutation data including classifications of pathogenicity, variant allele frequencies and illustrations of the mutation distribution along the length of encoded proteins are included.