Lastly, we evaluate its feasibility for multi-cancer early detection in population-scale screening using pooled plasma samples. The EC-SNV-Seq assay can enable highly sensitive and specific identification of low-frequency mutations, facilitating early cancer diagnosis and personalized treatment strategies.

1 day ago

Journal

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

KRAS mutation • EGFR mutation • PIK3CA mutation

Addition of ipatasertib to dual anti-HER2 maintenance therapy in HER2-positive metastatic breast tumors with PIK3CA mutations: the phase 1b SOLTI-1507 IPATHER trial. (PubMed, Clin Cancer Res)

These results support ipatasertib plus HP as a safe and promising maintenance strategy for HER2-positive breast tumors harboring PIK3CAmut.

4 days ago

P1 data • Journal

HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

HER-2 positive • PIK3CA mutation

Herceptin (trastuzumab) • Perjeta (pertuzumab) • ipatasertib (RG7440)

A Case of Uterine Serous Carcinoma in a Patient with a Germline BRCA1 Mutation: Genomic Profiling Reveals an Ovarian Cancer-Like Molecular Signature. (PubMed, Case Rep Oncol)

This finding suggests that BRCA1-associated USC may be sensitive to poly ADP-ribose polymerase inhibitors, and also raises the question of whether risk-reducing hysterectomy should be considered for patients with BRCA1 mutation. USC with a BRCA1 mutation may have molecular characteristics distinct from those of sporadic USC, and further accumulation and analysis of such cases are needed to evaluate the clinical implications.

4 days ago

Journal • BRCA Biomarker • PARP Biomarker

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • RB1 (RB Transcriptional Corepressor 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1)

TP53 mutation • PIK3CA mutation

Morpheus-TNBC: A Study Evaluating the Efficacy and Safety of Multiple Treatment Combinations in Patients With Metastatic or Locally Advanced Breast Cancer (clinicaltrials.gov)

P1/2, N=792, Recruiting, Hoffmann-La Roche | N=580 --> 792 | Trial completion date: May 2028 --> Sep 2030 | Trial primary completion date: May 2028 --> Sep 2030

7 days ago

Enrollment change • Trial completion date • Trial primary completion date

HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

PD-L1 expression • PIK3CA mutation

VENTANA PD-L1 (SP142) Assay

Avastin (bevacizumab) • Tecentriq (atezolizumab) • Ibrance (palbociclib) • carboplatin • gemcitabine • Enhertu (fam-trastuzumab deruxtecan-nxki) • capecitabine • Verzenio (abemaciclib) • albumin-bound paclitaxel • Kisqali (ribociclib) • fulvestrant • Halaven (eribulin mesylate) • letrozole • ipatasertib (RG7440) • Trodelvy (sacituzumab govitecan-hziy) • Itovebi (inavolisib) • Actemra IV (tocilizumab) • atirmociclib (PF-07220060) • ladiratuzumab vedotin (SGN-LIV1A) • selicrelumab (RG7876)

Tumor necrosis associates with aggressive breast cancer features, increased hypoxia signaling and reduced patient survival. (PubMed, Sci Rep)

Mutational profiling pointed to enrichment of TP53 and PIK3CA mutations in tumors with and without necrosis, respectively. This study confirms the association of breast cancer necrosis with aggressive tumor features and reduced survival, and points to the BCNS score as a potential biomarker that should be further explored and validated to improve breast cancer diagnosis and management.

8 days ago

Journal

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

TP53 mutation • PIK3CA mutation

Clinicopathological features and mutational landscape of colorectal cancer subgroups defined by MSI and EMAST status. (PubMed, Pathol Res Pract)

MSS/EMAST-L tumors aligned with chromosomally stable, KRAS/Wnt-driven CRC. In conclusion, MSS/EMAST-H tumors represent an underrecognized CRC subtype with intermediate genomic instability and a distinctive molecular profile, with potential implications for prognostic assessment and personalized therapeutic strategies.

8 days ago

Journal • MSi-H Biomarker

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

TP53 mutation • KRAS mutation • MSI-H/dMMR • BRAF mutation • PIK3CA mutation

Artificial Intelligence-Guided Molecular Determinants of PI3K Pathway Alterations in Early-Onset Colorectal Cancer Among High-Risk Groups Receiving FOLFOX. (PubMed, Biomedicines)

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.

8 days ago

Journal

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • INPP4B (Inositol polyphosphate-4-phosphatase type II B) • PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2 )

PIK3CA mutation • PTEN mutation

5-fluorouracil • oxaliplatin • leucovorin calcium

Genomic and Demographic Characteristics of Angiosarcoma as Described in the AACR Project GENIE Registry. (PubMed, Cancers (Basel))

In one of the largest genomic analyses of angiosarcoma to date, we identified recurrent alterations, suggesting potential future therapeutic targets.

8 days ago

Journal

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • KDR (Kinase insert domain receptor) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler) • NOTCH2 (Notch 2) • FAT1 (FAT atypical cadherin 1) • FLT4 (Fms-related tyrosine kinase 4) • CRKL (CRK Like Proto-Oncogene, Adaptor Protein) • POT1 (Protection of telomeres 1) • MSI2 (Musashi RNA Binding Protein 2) • ZFHX4 (Zinc Finger Homeobox 4)

TP53 mutation • PIK3CA mutation • CDKN2A deletion

SPEAR: Study of PIK3CA Mutations and Effectiveness and Tolerability Outcomes of Alpelisib in Real-world (clinicaltrials.gov)

P=N/A, N=600, Completed, Novartis Pharmaceuticals | Recruiting --> Completed | N=200 --> 600 | Trial completion date: Sep 2025 --> Feb 2025 | Trial primary completion date: Sep 2025 --> Feb 2025

9 days ago

Trial completion • Enrollment change • Trial completion date • Trial primary completion date • Real-world evidence

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

HR positive • HER-2 negative • PIK3CA mutation

Piqray (alpelisib) • fulvestrant

Descriptive Genomic Analysis of Ampullary Carcinoma Utilizing the AACR Project GENIE Dataset. (PubMed, Curr Issues Mol Biol)

Reduced survival rates were seen in populations with the TP53 or KRAS mutation. This study provides a detailed descriptive genomic landscape of ampullary carcinoma, highlighting frequent mutations between patient groups and the mutational burden of the DNA damage response pathway in ampullary cancer, laying important groundwork for the development of therapeutic targets and more individualized treatment regimens.

9 days ago

Journal • Tumor mutational burden

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • SMAD4 (SMAD family member 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • APC (APC Regulator Of WNT Signaling Pathway)

TP53 mutation • KRAS mutation • PIK3CA mutation • HER-2 mutation • ARID1A mutation

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region. (PubMed, Cells)

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.

9 days ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • RAD51C (RAD51 paralog C) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • GATA3 (GATA binding protein 3)

TP53 mutation • PIK3CA mutation • ATM mutation • PTEN mutation

10d

Predicting PIK3CA mutation in breast cancer with machine learning based multimodal image radiomics. (PubMed, Eur J Med Res)

US-based radiomics showed better predictive ability than MMG-based radiomics model. The hybrid clinicopathological and US + MMG + LR model with improved performance can assist tailored therapeutic strategies.

10 days ago

Retrospective data • Journal

ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor)

PIK3CA mutation