PTEN mutation

Endometrial carcinomas with SB-GN represent a distinct and aggressive tumor group characterized by solid growth pattern, prominent necrosis, frequent basaloid morphology, high rates of CTNNB1 mutations, and aberrant β-catenin staining. Our results demonstrate that endometrial carcinomas with SB-GN and PiMHECs share similar clinicopathologic and molecular profiles, supporting a unified biological spectrum.

Early recognition of BRRS features, along with prompt referral and intervention, can significantly improve outcomes. The lack of diagnostic guidelines and limited treatment options highlights the need for further research to establish standardized diagnostic and therapeutic strategies.

Moreover, MutAnt prediction scores of deleteriousness improved somatic variant calling from RNA sequencing data compared to standard approaches. MutAnt's high performance in distinguishing neutral and protein-disrupting mutations highlights its potential clinical utility in variant classification.

FOLFOX (folinic acid, fluorouracil, and oxaliplatin) is a standard first-line therapy for microsatellite stable (MSS) CRC lacking actionable driver mutations; however, its efficacy and genomic impact in EOCRC, particularly in underrepresented groups, remain poorly understood. By integrating clinical, molecular, and treatment variables, the AI-HOPE and AI-HOPE-PI3K platforms enabled rapid, reproducible, and fine-grained analysis of complex datasets. These findings underscore the need for ancestry-informed molecular profiling to optimize therapeutic strategies and highlight AI-guided interrogation as a powerful tool for advancing precision oncology in underrepresented and disproportionately affected CRC populations.

Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.

Four clinical examples illustrated LB-guided therapies. This largest-to-date aSCC cohort reinforces molecular profiling-especially LB-as a key tool for guiding personalized therapy.

MTAP rearrangement defines a distinct and clinically adverse subset of pediatric ALL characterized by specific fusion architecture and an unfavorable co-mutation pattern. Beyond its diagnostic value, MTAP-r represents a promising biomarker for trial enrollment and future risk-adapted strategies. Confirmation of independent prognostic impact and therapeutic utility will require multivariable analyses and prospective, biomarker-driven studies.

The noteworthy observation is out of 7 Triple Negative Breast Cancer patients three patients were negative for any mutation. Hence, the association of genetic variation with clinicopathological parameters will be helpful in the selection of targeted treatment.

The model also showed significant clinical relevance, with bTRPC-positive patients exhibiting shorter survival times under ADT and doublet therapy, although this disparity diminished with triplet therapy. These findings highlight the potential of ctDNA-based gene mutation analysis to guide personalized treatment strategies for mHSPC, offering a non-invasive alternative to tissue-based analyses and improving prognostic accuracy.

However, they exhibit lymphoid hyperplasia, macrocephaly and brain abnormalities, associated with impaired nuclear functions of PTEN-R173C, demonstrated by reduced dsDNA damage repair. Integrating PHTS patient data with our mouse-model, we propose that defective nuclear functions of PTEN variants can predict the onset of PHTS phenotypes, and that late-onset cancer in these individuals may arise from secondary genetic alterations, facilitated by compromised dsDNA repair.

This article aims to discuss in depth the treatment landscape of HR+/HER2- advanced BC, the development of PI3K/AKT/PTEN signaling pathway inhibitors, and underscore the importance of mutation detection in promoting the precision diagnosis and treatment of HR+/HER2- BC. Understanding these aspects is critical to developing more effective personalized treatment strategies that can overcome CDK4/6i resistance and improve outcomes for patients with this challenging disease.

Most patients undergoing MPA therapy were classified as having NSMP. Genetic alterations, specifically mutations in PTEN and PIK3CA, were significantly associated with treatment outcomes, highlighting their potential as prognostic biomarkers.