News - TP53 mutation + ATM mutation

3ms

Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers. (PubMed, Rev Assoc Med Bras (1992))

Pathogenic variations confirming the diagnosis of synchronous endometrial ovarian cancer with genetic alterations were identified in all but one case. ATM gene mutation emerged as the most common alteration and has a potential association with a favorable prognosis.

3 months ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54)

TP53 mutation • HRD • RAD51D mutation • BARD1 mutation • RAD54L mutation • TP53 mutation + ATM mutation

almost2years

Exploiting PRMT5 as a target for combination therapy in mantle cell lymphoma characterized by frequent ATM and TP53 mutations. (PubMed, Blood Cancer J)

Co-targeting PRMT5, and ATR or CDK4 by using their inhibitors showed synergistic antitumor effects both in vitro and in vivo. Our results have provided a rational combination therapeutic strategy targeting multiple PRMT5-coordinated tumor-promoting processes for the treatment of R/R MCL with high mutation burdens.

almost 2 years ago

Journal • Combination therapy • Tumor mutational burden

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase) • CD19 (CD19 Molecule) • PRMT5 (Protein Arginine Methyltransferase 5)

TP53 mutation • TMB-H • ATM mutation • TP53 mutation + ATM mutation

2years

Integrative Analysis of Genetic and Tumor Microenvironment Topology to Delineate Prognostic Subtypes in Mantle Cell Lymphoma (ASH 2022)

Thus, this study suggests a new angle of ATM mutations in MCL pathogenesis which could improve risk stratification. Overall, this study may unravel distinct mechanisms of tumorigenesis with relevant clinical and biological implications.

2 years ago

TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • CD8 (cluster of differentiation 8) • CCND1 (Cyclin D1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CD4 (CD4 Molecule) • NFKB1 (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1)

TP53 mutation • ATM mutation • CCND1 overexpression • ATM expression • ATM positive • TP53 mutation + ATM mutation

2years

Clinical Implications of BRCA Mutations in Advanced Biliary Tract Cancer. (PubMed, Oncology)

This study demonstrated that BRCA mutations might have a role as predictive biomarkers for palliative first-line platinum-based chemotherapy in patients with advanced BTC.

2 years ago

Journal • BRCA Biomarker

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • ATM (ATM serine/threonine kinase) • NOTCH1 (Notch 1) • BRCA (Breast cancer early onset)

TP53 mutation • ATM mutation • BRCA mutation • TP53 mutation + ATM mutation

over2years

SUBCLONAL ARCHITECTURE OF CHROMOSOMES REVEALED BY SINGLE-CELL ANALYSIS OF GENE EXPRESSION IN A PATIENT WITH CLONAL EVOLUTION OF RELAPSING/REFRACTORY CLL (EHA 2022)

Such fact can be exploited to reconstruct chromosomal disruptions in individual cells using scRNAseq and to uncover the subclonal architecture of the disease. Grants: MH-CZ_AZV_NU20-08-00314, MH-CZ_AZV_NV19-03-00091, MEYS-CZ_MUNI/A/1330/2021, MH-CZ_RVO_65269705.

over 2 years ago

Clinical • IO biomarker

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • BIRC3 (Baculoviral IAP repeat containing 3) • XPO1 (Exportin 1) • PIM1 (Pim-1 Proto-Oncogene) • ZMYM3 (Zinc Finger MYM-Type Containing 3)

TP53 mutation • ATM mutation • NOTCH1 mutation • Chr del(11q) • PIM1 mutation • TP53 mutation + ATM mutation

over2years

Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease. (PubMed, Mol Genet Genomic Med)

This highlights that common pro-oncogenic signals are present between ADPKD and sRCC providing insights into their shared pathobiology.

over 2 years ago

Journal

TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • ARID1B (AT-Rich Interaction Domain 1B) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)

TP53 mutation • ATM mutation • CTNNB1 mutation • NF2 mutation • TP53 mutation + ATM mutation

almost3years

Clinicopathologic, genomic and immunophenotypic landscape of ATM mutations in non-small cell lung cancer (AACR 2022)

Deleterious ATM mutations defined a subset of NSCLC with unique clinicopathologic, genomic, and immunophenotypic features.

almost 3 years ago

Clinical • PD(L)-1 Biomarker • IO biomarker

EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8) • PD-1 (Programmed cell death 1) • RBM10 (RNA Binding Motif Protein 10) • KDM5C (Lysine Demethylase 5C) • FOXP3 (Forkhead Box P3)

PD-L1 expression • TP53 mutation • KRAS mutation • EGFR mutation • ATM mutation • TP53 wild-type • STK11 mutation • CDKN2A mutation • TP53 expression • ATM expression • TP53 mutation + ATM mutation

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