AMER1 (APC Membrane Recruitment Protein 1)

This study is the first to investigate postoperative survival and chemotherapy resistance based on genomic panel testing using PleSSision-160 for resectable ESCC. The findings suggested that high CNA status was a risk factor for long-term survival. Compared to previous genomic sequencing studies in ESCC, further investigation using PleSSision-160 appears to be a promising approach.

This study provided a comprehensive molecular and genetic profiling of seminoma including key genetic alterations, affected pathways, and potential therapeutic strategies. Moreover, overlap between pathways and gene mutations provides the potential for alternative treatment options for seminoma via multiple pathways.

This case highlights the need for further research into AMER1's mechanistic role and its potential utility as a biomarker or therapeutic target in meningioma.

The fitness landscape of APC inactivation was consistent across microsatellite unstable and POLE-deficient colorectal cancers and tumors in patients with familial adenomatous polyposis. Together, these findings suggest a general "just-right" optimum for APC inactivation and WNT signaling, pointing to WNT hyperactivation as a potential vulnerability in cancer.

Our cohort of four patients, combined with the six patients with WT and AMER1 pathogenic variants previously reported, with 20% (two out of 10) collective incidence of bilateral tumors, support AMER1 as a WT predisposition gene warranting surveillance. Collectively, age of WT diagnosis ranged from 5 months to 12 years, which demonstrates potential for prolonged risk. Pathogenic AMER1 germline variants were previously thought to have 100% penetrance; however, one of four current cases did not exhibit an OSCS phenotype. We report the first documented case of a familial AMER1 germline variant and WT. We conclude that nephron-sparing surgery and familial genetic testing should be considered for children with AMER1 germline variants and WT.

The proposed intra-clustering analysis extracted statistically significant relationships within clusters, uncovering putative clinically relevant connections and disentangling mutational heterogeneity.

This study is the first to demonstrate that specific tumor mutations correlate with the incidence of high-grade irAEs in patients with NSCLC treated with an ICI, providing molecular guidance for treatment selection and drug monitoring.

We compared the genomic features of primary breast cancer tissues with their corresponding CM tissues and discussed potential genes and pathways that may contribute to the skin metastasis of advanced breast cancers patients. TP53, PIK3CA mutant, and TERT amplification may serve as biomarkers for poor prognosis for CM patients.

In particular, the DNA methylation status and/or mRNA expression levels of the four genes (AMER1, HSPA2, NCX1, and TNFRSF10C) may contribute to the clinical effects of azacitidine in MDS. Our study provides information on azacitidine resistance diagnostic genes in MDS patients, which can be of great help in monitoring the effectiveness of treatment in progressing azacitidine treatment for newly diagnosed MDS patients.

These data indicate that epigenetic silencing suppresses MLH1 transcription, induces the loss of MLH1 protein, abrogates mismatch repair, and drives genomic instability in naturally occurring CRC in rhesus macaques. We consider this spontaneous, uninduced CRC in immunocompetent, treatment-naïve rhesus macaques to be a uniquely informative model for human CRC.

Resistant gene mutations caused by anti-EGFR drugs in RAS/BRAF wild-type mCRC patients can be observed by dynamic ctDNA analysis. TP53 and AMER1 mutations, tumor mutational burden (TMB) levels, and TP53/AMER1 co-mutation may predict the efficacy of the first-line cetuximab-contained treatment. Situations of genetic mutations were differentiated from first-line PD to second-line PD, which indicated that mutation detection may contribute to predict prognosis of mCRC patients.

Our data show a strong association between LMTK3 gene expression and distinct molecular features and TME immune cell infiltration in CRC. These findings suggest that LMTK3 may be an important molecular factor that plays a role in determining the composition of the TME, thus targeting LMTK3 could represent a novel strategy in selected CRC subgroups.