News - ATM mutation - LARVOL VERI

Amplification and Overexpression of Cyclin D1 in Epstein-Barr Virus-Positive Inflammatory Follicular Dendritic Cell Sarcoma: A Targeted Next-Generation Sequencing Study. (PubMed, Mod Pathol)

In addition, tumor cells exhibited a type II EBV latency pattern (LMP1+/EBNA2-) in 84.6% of cases, and LMP1 expression correlated with larger tumor size (p=0.021). Taken together, these findings support a role for EBV-driven activation of the cyclin D1 pathway and suggest that EBV-LMP1-CCND1 signaling may contribute to the pathogenesis of IFDCS.

2 days ago

Journal • Next-generation sequencing

MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ATM (ATM serine/threonine kinase) • CCND1 (Cyclin D1)

ATM mutation • EZH2 mutation

TruSight Oncology 500 Assay

Targeted Early Detection Program in Men at High Genetic Risk for Prostate Cancer (clinicaltrials.gov)

P=N/A, N=200, Recruiting, University of Michigan Rogel Cancer Center

6 days ago

New trial

BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease) • HOXB13 (Homeobox B13)

TP53 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BRCA mutation

The influence of the secretome from human amniotic mesenchymal stem cells on p53 and MDM2 expression in MDA-MB-231 breast cancer cell line. (PubMed, Discov Oncol)

These findings suggest that hAMSCs secretome promotes cell death and induces S phase cell cycle arrest in MDA-MB-231 cells, suggesting its potential as a novel approach in cancer therapy.

8 days ago

Preclinical • Journal

MDM2 (E3 ubiquitin protein ligase) • CHEK2 (Checkpoint kinase 2) • CASP3 (Caspase 3) • CDKN1A (Cyclin-dependent kinase inhibitor 1A)

TP53 mutation • ATM mutation

11d

Uterine inflammatory myofibroblastic tumor: a clinicopathological and molecular genetic analysis of eight cases (PubMed, Zhonghua Bing Li Xue Za Zhi)

The patient was treated with the oral targeted drug crizotinib and died of multiple organ failure 18 months after surgery...UIMT and EIMS that exhibit aggressive behavior typically possess a greater number of genetic alterations. The abnormal expression of p53 or p16 protein, when combined with clinicopathological parameters, can serve as indicators for predicting the adverse biological behavior of tumors.

11 days ago

Journal

ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • CCNE1 (Cyclin E1) • ANK2 (Ankyrin 2)

TP53 mutation • ALK positive • ATM mutation • ALK rearrangement • ALK fusion

Xalkori (crizotinib)

21d

A Presentation of Meckel's Diverticulum With Malignancy. (PubMed, Cureus)

Undifferentiated carcinoma should be considered in the differential diagnosis of large mesenteric masses. This case emphasizes the importance of recognizing atypical presentations of MD and the critical role of molecular characterization in guiding personalized therapy when conventional management strategies are limited.

21 days ago

Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase)

TMB-H • MSI-H/dMMR • ATM mutation

22d

A Study of Magnetic Resonance Imaging of the Pancreas for Cancer Screening (clinicaltrials.gov)

P=N/A, N=79, Recruiting, Memorial Sloan Kettering Cancer Center

22 days ago

New trial

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • EPCAM (Epithelial cell adhesion molecule) • PRSS1 (Serine Protease 1) • CTRC (Chymotrypsin C)

TP53 mutation • BRCA1 mutation • ATM mutation • STK11 mutation • PALB2 mutation

Comparing Genetic Testing Completion among Breast Cancer Patients When Ordered by a Surgeon Versus a Genetic Specialist. (PubMed, Kans J Med)

Offering genetic testing directly within the breast surgeon's clinic was associated with significantly higher completion rates compared with referral-based testing. Integrating genetic testing into surgical consultations may reduce logistical barriers and enable earlier use of genetic information in treatment planning.

1 month ago

Journal • BRCA Biomarker

BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2)

ATM mutation • CHEK2 mutation

Olaparib in Treating Patients With Metastatic Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations (clinicaltrials.gov)

P2, N=32, Active, not recruiting, Academic and Community Cancer Research United | Recruiting --> Active, not recruiting | Trial completion date: Mar 2025 --> Aug 2026

1 month ago

Enrollment closed • Trial completion date

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • ATR (Ataxia telangiectasia and Rad3-related protein) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)

BRCA2 mutation • BRCA1 mutation • ATM mutation • PTEN mutation • ARID1A mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation • BRCA mutation

Lynparza (olaparib)

Liquid Biopsy in Advanced Prostate Cancer. (PubMed, Cancers (Basel))

Emerging approaches, including fragmentomics and methylation profiling, offer improved tumor specificity and may help overcome these limitations. Together, these advances support the integration of liquid biopsy into clinical practice for personalized management and longitudinal monitoring in prostate cancer.

1 month ago

Review • Journal • Liquid biopsy • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)

ATM mutation

Molecular profile of residual triple-negative breast cancer: opportunities for post-neoadjuvant therapeutic interventions. (PubMed, NPJ Breast Cancer)

Moreover, 208 potential neo-peptide targets (median per patient n = 3) were detected across recurrently mutated genes such as ATM, CREBBP, IRS2, KEAP1, MSH6, NOTCH1, NOTCH2, POLD1, TP53, and TSC2. Molecular profiling of residual disease in extensively poor responding TNBC post-NAC revealed multiple potentially targetable variant, supporting the use of next-generation sequencing to guide personalized strategies for these high-risk TNBC patients.

1 month ago

Journal • BRCA Biomarker

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • KEAP1 (Kelch Like ECH Associated Protein 1) • MSH6 (MutS homolog 6) • TSC2 (TSC complex subunit 2) • NOTCH2 (Notch 2) • CREBBP (CREB binding protein) • POLD1 (DNA Polymerase Delta 1) • IRS2 (Insulin receptor substrate 2)

TP53 mutation • ATM mutation

Cabozantinib and Pamiparib for the Treatment of Advanced of Refractory Solid Tumors (clinicaltrials.gov)

P1, N=44, Completed, M.D. Anderson Cancer Center | Active, not recruiting --> Completed

1 month ago

Trial completion

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)

BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • CHEK1 mutation

Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)