News - BRCA2 mutation + ATM mutation

3ms

Germline DNA Damage Response Gene Mutations in Localized Prostate Cancer. (PubMed, Medicina (Kaunas))

However, the number of cISUP > 1-grade patients with a CHEK2 mutation was significantly higher in advanced PCa than in localized PCa: 66.67% vs. 23.08% (p = 0.047). The results of our study suggest the potential of genetic screening for selected DDR gene mutations for early identification of cases at risk of aggressive PCa.

3 months ago

Journal • Tumor mutational burden • BRCA Biomarker

TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))

ATM mutation • CHEK2 mutation • NBN mutation • BRCA2 mutation + ATM mutation

4ms

Combined Cabazitaxel and Carboplatin Treatment of Metastatic Castration Resistant Prostate Cancer Patients, With Innate or Acquired Resistance to Cabazitaxel Monotherapy. (PubMed, Clin Genitourin Cancer)

In this study we showed that patients with PSA progression during cabazitaxel monotherapy could benefit from the addition of carboplatin to cabazitaxel, while prospective identification of these patients remains a clinical challenge.

4 months ago

Preclinical • Journal • BRCA Biomarker • Metastases

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • RB1 (RB Transcriptional Corepressor 1) • BRCA (Breast cancer early onset)

TP53 mutation • BRCA2 mutation • BRCA1 mutation • ATM mutation • PTEN mutation • RB1 mutation • BRCA mutation • BRCA2 mutation + ATM mutation

carboplatin • cabazitaxel

5ms

Efficacy of olaparib (O) plus abiraterone (A) versus placebo (P) plus A in patients (pts) with metastatic castration-resistant prostate cancer (mCRPC) with single homologous recombination repair gene mutations (HRRm) in the PROpel trial. (ASCO-GU 2024)

BRCA2, ATM and CDK12 were the most prevalent single gene mutations and clinical benefit was observed with O + A. Other single gene mutations were rare, limiting interpretation. The greatest treatment benefit was observed in pts with BRCA mutations. Clinical trial information: NCT03732820.NR, not reached; BRIP1, RAD51B, RAD51D n=1; CHEK1, RAD51C n=0.

5 months ago

Clinical • PARP Biomarker • BRCA Biomarker • Metastases

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) • 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)

ATM mutation • CDK12 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BRCA mutation • CHEK1 mutation • BRCA2 mutation + ATM mutation • CHEK1 expression

FoundationOne® CDx • FoundationOne® Liquid CDx

Lynparza (olaparib) • abiraterone acetate

6ms

The mutational pattern of homologous recombination repair genes in urothelial carcinoma and its correlation with immunotherapeutic response. (PubMed, Cancer Med)

Our findings provide valuable insights into the genomic landscape of Chinese UC patients and underscore the molecular rationale for utilizing immunotherapy in UC patients with HRR mutations.

6 months ago

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

PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • RAD51C (RAD51 paralog C)

PD-L1 expression • BRCA1 mutation • ATM mutation • CDK12 mutation • RAD51C mutation • BRCA2 mutation + ATM mutation • RAD51 mutation

MSK-IMPACT

1year

Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand. (PubMed, Asian Pac J Cancer Prev)

This is the first study on the frequency of germline mutations in BRCA1/2 and other breast cancer-predisposing genes in the southernmost provinces of Thailand. At least one pathogenic germline mutation was identified in 12.5% of the study patients, which suggests that genetic testing in this population has a high potential to provide benefits.

1 year 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) • STK11 (Serine/threonine kinase 11) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1)

BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • BRCA2 mutation + ATM mutation

over1year

ELIMUSERTIB, AN ORAL ATAXIA TELANGIECTASIA AND RAD3-RELATED INHIBITOR, IN ADVANCED GYNECOLOGIC CANCERS WITH DNA DAMAGE RESPONSE DEFECTS (IGCS 2022)

Elimusertib demonstrated clinical benefit in heavily pretreated gynecologic cancers with DDR defects, including platinum-resistant ovarian cancer with previous PARPi treatment. A Phase I study of elimusertib plus niraparib is ongoing (NCT04267939).

over 1 year ago

BRCA Biomarker • PARP Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • MUC16 (Mucin 16, Cell Surface Associated) • ATR (Ataxia telangiectasia and Rad3-related protein)

ATM mutation • BRCA2 mutation + ATM mutation

Zejula (niraparib) • elimusertib (BAY 1895344)