The results confirm watch-and-wait as standard of care for early-stage CLL patients, especially in high-risk CLL characterized by del(17p) and/or mutated TP53. EudraCT Number: 2013-003211-22.

4 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NOTCH1 (Notch 1) • RAS (Rat Sarcoma Virus) • POT1 (Protection of telomeres 1) • NFKBIE (NFKB Inhibitor Epsilon)

TP53 mutation • KRAS mutation • BRAF mutation • NRAS mutation • ATM mutation • Chr del(11q) • TP53 mutation + Chr del(17p)

Imbruvica (ibrutinib)

From Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision Therapy. (PubMed, Hum Mutat)

Moreover, DDR-associated vulnerabilities provide opportunities for precision therapies, including PARP inhibitor-based synthetic lethality strategies. This review summarizes the mechanistic and clinical significance of germline DDR alterations in MM and highlights their translational potential in precision oncology.

5 days ago

Review • Journal • BRCA Biomarker • PARP Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2)

BRCA2 mutation • BRCA1 mutation • ATM mutation • CHEK2 mutation

Hereditary Cancer Genetic Testing for All? A Retrospective Analysis on Genetic Mutations Found in Individuals Not Meeting NCCN® Guidelines. (PubMed, Eur J Breast Health)

These findings support the potential value of expanded or universal genetic testing strategies, particularly in populations with limited family history or those outside current clinical criteria.

5 days ago

Retrospective data • Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • MSH3 (MutS Homolog 3) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • FLCN (Folliculin) • POT1 (Protection of telomeres 1) • MITF (Melanocyte Inducing Transcription Factor) • SDHD (Succinate Dehydrogenase Complex Subunit D) • HOXB13 (Homeobox B13) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

ATM mutation • CHEK2 mutation • BRIP1 mutation • BARD1 mutation

CancerNext-Expanded®

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.

8 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

12d

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

12 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

14d

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.

14 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

17d

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.

17 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)

27d

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.

27 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

27d

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

27 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)