News - ATM mutation - LARVOL VERI

Recurrent Glioblastoma with Turcot Syndrome. (PubMed, Turk Neurosurg)

Molecular diagnostics play a crucial role in guiding appropriate care and management for patients with TS. Early diagnosis, genetic testing, and preventive measures are essential for the effective management of this condition.

4 days ago

Journal

TP53 (Tumor protein P53) • MSI (Microsatellite instability)

TP53 mutation • ATM mutation

DDRiver Solid Tumours 301: Tuvusertib (M1774) in Participants With Metastatic or Locally Advanced Unresectable Solid Tumors (DDRiver Solid Tumors 301) (clinicaltrials.gov)

P1, N=161, Active, not recruiting, EMD Serono Research & Development Institute, Inc. | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> Jan 2027

5 days ago

Trial completion date • Trial primary completion date • First-in-human

ARID1A (AT-rich interaction domain 1A) • ATRX (ATRX Chromatin Remodeler)

ATM mutation • ARID1A mutation

Zejula (niraparib) • tuvusertib (M1774)

Harnessing AACR Project GENIE to Define the Molecular Features of Desmoplastic Small Round Cell Tumor. (PubMed, Curr Issues Mol Biol)

Our data highlights mutational variation across demographic cohorts. These patterns are vital to future studies into identifying diagnostic markers or therapeutic targets.

7 days ago

Journal

TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • FGFR4 (Fibroblast growth factor receptor 4) • KMT2C (Lysine Methyltransferase 2C) • WT1 (WT1 Transcription Factor) • EP300 (E1A binding protein p300) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1) • ANKRD1 (Ankyrin Repeat Domain 1) • TRAF1 (TNF Receptor Associated Factor 1) • PCLO (Piccolo Presynaptic Cytomatrix Protein)

TP53 mutation • ATM mutation • ARID1A mutation

Comprehensive Genomic Characterization of 102 Cervical Adenocarcinoma Tumors. (PubMed, Medicina (Kaunas))

This study validates the primary drivers of cervical adenocarcinoma and reveals novel findings, including notable racial disparities in TP53 mutation frequency and unique patterns of co-occurring mutations. These findings highlight the genomic heterogeneity of the disease and suggest that ancestry and tumor evolution may influence its molecular pathogenesis, offering potential avenues for the development of targeted therapies and personalized biomarkers.

9 days ago

Journal

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) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • BCL6 (B-cell CLL/lymphoma 6) • MSH2 (MutS Homolog 2)

TP53 mutation • KRAS mutation • HER-2 amplification • PIK3CA mutation • ATM mutation • ARID1A mutation • STK11 mutation

Precision Medicine in Prostate Cancer with a Focus on Emerging Therapeutic Strategies. (PubMed, Biomedicines)

Integrating multi-omics technologies, liquid biopsy platforms, and AI-assisted imaging offers new opportunities for dynamic disease monitoring and biology-driven treatment selection. By consolidating current clinical practices with emerging experimental directions, this review provides clinicians and researchers with a comprehensive perspective on the evolving landscape of precision medicine in prostate cancer and highlights future opportunities to improve patient outcomes.

9 days ago

Review • Journal • BRCA Biomarker • MSi-H Biomarker • PARP Biomarker • IO biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • SPOP (Speckle Type BTB/POZ Protein)

MSI-H/dMMR • ATM mutation

Caffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells. (PubMed, Biomolecules)

This effect is significant in radioresistant cells. Conversely, in the AD and NF1 cells, the DSB recognition is already so low that caffeine does not provide any additional molecular effect.

9 days ago

Journal

NF1 (Neurofibromin 1)

ATM mutation

13d

Niraparib in Tumors Metastatic to the CNS (clinicaltrials.gov)

P2, N=20, Active, not recruiting, Massachusetts General Hospital | Trial primary completion date: Dec 2025 --> Dec 2026

13 days ago

Trial primary completion date

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BAP1 (BRCA1 Associated Protein 1) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • XRCC2 (X-Ray Repair Cross Complementing 2) • RAD54B (RAD54 Homolog B) • XRCC3 (X-Ray Repair Cross Complementing 3)

HRD • ATM mutation • PALB2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation

Zejula (niraparib)

14d

A Study of Reduced-dose Radiation in People With Metastatic Tumors With a Genetic Change (clinicaltrials.gov)

P2, N=40, Recruiting, Memorial Sloan Kettering Cancer Center | N=29 --> 40 | Trial completion date: Aug 2026 --> Aug 2027 | Trial primary completion date: Aug 2026 --> Aug 2027

14 days ago

Enrollment change • Trial completion date • Trial primary completion date

ATM (ATM serine/threonine kinase)

ATM mutation

15d

PARTNER: Prospective Familial Registry for Pancreas Research (clinicaltrials.gov)

P=N/A, N=3000, Enrolling by invitation, Mayo Clinic

15 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)

TP53 mutation • ATM mutation • STK11 mutation • PALB2 mutation

26d

ATM kinase phosphorylates HSP90 on T297 changing its conformation dynamics and promoting its interaction with HER2 receptor tyrosine kinase. (PubMed, Biochim Biophys Acta Mol Cell Res)

T297 is located in the middle domain of HSP90, a region that is involved in the interaction of HSP90 with clients. Consistently, structural studies indicate that T297 phosphorylation can indeed favor the chaperone's interaction with HER2, further supporting our hypothesis.

26 days ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1)

HER-2 positive • HER-2 overexpression • ATM mutation • HER-2 positive + HER-2 overexpression

Multiple myeloma risk linked to DNA damage response genes. (PubMed, J Hematol Oncol)

Our results suggest expansion of the phenotypic spectrum of some of these DDRG to include MM. The identification of these germline predisposition genes opens the avenue for targeted screening of higher risk individuals especially those with young-onset or a family history of plasma cell gammopathies.

1 month ago

Journal

TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • ATM mutation • ARID1A mutation • CHEK2 mutation

Long-Term Survival With Olaparib Maintenance Therapy in Metastatic Pancreatic Carcinoma of a Patient Harboring Germline BRIP1 and ATM Mutations. (PubMed, Case Rep Oncol Med)

Following a diagnosis of metastatic PDAC, the patient achieved complete remission after retreatment with FOLFIRINOX and has maintained remission for over 40 months on olaparib maintenance therapy...Our findings advocate for further clinical studies to assess the broader applicability of PARP inhibitors in PDAC patients with HRD mutations, including ATM and BRIP1, which could enhance survival outcomes in this high-risk population. Expanding the standard of care to include PARP inhibitors for HRD-positive PDAC could address a critical gap in treatment and improve patient prognosis.

1 month ago

Journal • BRCA Biomarker • PARP Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)

HRD • ATM mutation • BRIP1 mutation • BRCA mutation

Lynparza (olaparib) • 5-fluorouracil • irinotecan • leucovorin calcium