BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)

BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • RAD54L mutation

berzosertib (M6620) • Trodelvy (sacituzumab govitecan-hziy)

11d

Risk of Radiation-Associated Contralateral Breast Cancer in Germline Mutation Carriers: A Meta-Analysis and Systematic Review. (PubMed, Cancers (Basel))

Rate ratio (RR) analysis showed a significant risk for ATM (2.98), while overall RR indicated more than a two-fold increased CBC risk with radiotherapy (RR = 2.70 common-effect; 2.53 random-effects). Radiotherapy significantly increases contralateral breast cancer risk, particularly in ATM and CHEK2 carriers, emphasizing the importance of personalized genetic risk stratification in treatment decisions.

11 days ago

Retrospective data • Review • Journal • BRCA Biomarker

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

BRCA1 mutation • ATM mutation • CHEK2 mutation

14d

Berry-derived gold nanoparticles induce integrated ROS-mediated apoptosis, immune modulation, and transcriptomic remodeling in 4T1 triple-negative cancer cells. (PubMed, Cell Death Discov)

Further assessment of immunohistochemical, immunofluorescent, and flow cytometric data revealed that berry-derived nanoparticles are associated with the modulation of oncogenic transcription factors and linked to induced caspase-dependent execution-phase ROS-mediated apoptosis through pPAK1Thr212 dephosphorylation, downregulation of pPI3Kp85αγ(Tyr467/199)/pAKT1Thr450/mTOR signaling, and modulation of pJAK3Tyr785/STAT3 pathway supporting transcriptomic and transcriptional reprogramming of 4T1 treated cells. Together, our findings uncover a new strategy to capture berry-derived polyphenols required to regulate apoptosis, autophagy, immune response, and metastasis-related gene networks in breast cancer, thereby underscoring the therapeutic potential of functionalized AuNPs as delivery platforms for dietary phytochemicals.

14 days ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • NF1 (Neurofibromin 1) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • PIK3CG (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma) • JAK3 (Janus Kinase 3) • BARD1 (BRCA1 Associated RING Domain 1) • TGFB1 (Transforming Growth Factor Beta 1) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1) • WWOX (WW Domain Containing Oxidoreductase)

TP53 mutation • CHEK2 mutation • BARD1 mutation

24d

CHEK2 germline variants in B-cell precursor acute lymphoblastic leukemia: findings in Mexican pediatric patients. (PubMed, Front Oncol)

Our findings and those described in the literature suggest that CHEK2 may play a role in the germline origin of childhood pre-B ALL in specific populations. However, this study provides preliminary evidence of pre-B ALL predisposition in Mexican children with CHEK2 GVs that needs replication in a larger cohort to obtain accurate estimations.

24 days ago

Journal

CHEK2 (Checkpoint kinase 2)

CHEK2 mutation

28d

Our study, which makes use of the largest Chinese breast cancer sequencing cohort, sought to characterize the age-related genomic profile of breast cancer patients and identify novel therapeutic opportunities for individuals with breast cancer.

28 days ago

Clinical data • Journal • BRCA Biomarker • IO 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) • CHEK2 (Checkpoint kinase 2) • FOXA1 (Forkhead Box A1)

TP53 mutation • PIK3CA mutation • CHEK2 mutation

Niraparib in Patients With Pancreatic Cancer (clinicaltrials.gov)

P2, N=32, Completed, Dana-Farber Cancer Institute | Active, not recruiting --> Completed

1 month ago

Trial completion

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)

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

Zejula (niraparib)

P1/2, N=120, Recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2027 --> Mar 2029 | Trial primary completion date: Mar 2026 --> Mar 2028

1 month ago

Trial completion date • Trial primary completion date

berzosertib (M6620) • Trodelvy (sacituzumab govitecan-hziy)

2ms

Metastatic Granular Cell Tumor of the Vulva With CHEK2 Mutation: A Case Report and Molecular Insights. (PubMed, Int J Gynecol Pathol)

Our findings underscore the importance of integrating molecular profiling into the diagnostic and prognostic workup of GCTs and raise the question about the potential role of CHEK2 alterations as additional molecular determinants of aggressiveness beyond conventional histology. Long-term follow-up is warranted given the unpredictable clinical behavior of malignant GCTs.

2 months ago

Journal

MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • CHEK2 (Checkpoint kinase 2) • CD68 (CD68 Molecule)

HRD • CHEK2 mutation

2ms

Differential Response to 177Lu-PSMA-617 in Patients with Tumor Suppressor Gene-Mutated Metastatic Castration-Resistant Prostate Cancer. (PubMed, J Nucl Med)

TP53, PTEN, and RB1 mutations were linked to inferior overall survival in LuPSMA-treated patients and may serve as prognostic biomarkers. Prospective validation is required to establish their predictive value.

2 months ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • PTEN mutation • PALB2 mutation • RB1 mutation • CHEK2 mutation

Pluvicto (lutetium Lu 177 vipivotide tetraxetan)

2ms

Artificial Intelligence-Enabled Integration Suggests TP53 Pathway Alterations as Prognostic Biomarkers in Populations with Disproportionate Health Burdens. (PubMed, Int J Mol Sci)

Missense mutations were the predominant alteration type across groups. These findings suggest that TP53 pathway alterations may be associated with ancestry- and treatment-specific clinical patterns in EOCRC and illustrate how AI-enabled integrative analytic frameworks can facilitate hypothesis generation and prioritize candidate biomarkers for future validation in precision oncology.

2 months ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • ATM mutation • CHEK2 mutation

5-fluorouracil • leucovorin calcium

3ms

Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS. (PubMed, Can J Ophthalmol)

Mutations in BAP1, CHEK2, and DICER1 are independently associated with poorer prognosis in UM, while SF3B1 defines a distinct histologic subgroup. Routine mutational profiling by targeted NGS may aid in risk stratification and follow-up of UM patients.

3 months ago

Journal • Next-generation sequencing

SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • LRP1B (LDL Receptor Related Protein 1B) • CHEK2 (Checkpoint kinase 2) • DICER1 (Dicer 1 Ribonuclease III)

SF3B1 mutation • CHEK2 mutation

3ms

Olaparib and ASTX727 in BRCA1/2- and Homologous Recombination Deficient (HRD)-Mutated Tumors (clinicaltrials.gov)

P1, N=18, Recruiting, Pamela Munster | Trial completion date: Feb 2027 --> Jan 2028 | Trial primary completion date: Jan 2026 --> Jan 2028

3 months ago

Trial completion date • Trial primary completion date

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

PALB2 mutation • CHEK2 mutation

Lynparza (olaparib) • Inqovi (decitabine/cedazuridine)