News - BRCA2 amplification

3ms

Presence of RB1 or Absence of LRP1B Mutation Predicts Poor Overall Survival in Patients with Gastric Neuroendocrine Carcinoma and Mixed Adenoneuroendocrine Carcinoma. (PubMed, Cancer Res Treat)

The presence of LRP1B mutation was significantly associated with longer overall survival (OS), whereas RB1 mutation and advanced TNM stage were associated with shorter OS. We identified frequently mutated genes and potential predictors of survival in patients with gastric NECs and MANECs.

3 months ago

Journal • BRCA Biomarker

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • CCNE1 (Cyclin E1) • LRP1B (LDL Receptor Related Protein 1B) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDH1 (Cadherin 1) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • GNAS (GNAS Complex Locus) • NFKBIA (NFKB Inhibitor Alpha 2) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)

HER-2 mutation • LRP1B mutation • RB1 mutation • BRCA2 amplification • KRAS deletion • NOTCH mutation

1year

THE ASSOCIATION OF TUMOR MOLECULAR PROFILING AND CLINICAL TRIAL ENROLLMENT IN AN ADVANCED/RECURRENT ENDOMETRIAL CANCER COHORT (IGCS 2023)

Of 1099 patients included in this study, 45 (4.1%) patients were enrolled in a trial. 31 (68.9%) of those who were enrolled in a clinical trial had undergone CGP, compared to 14 (31.1%) who had not undergone CGP (p <0.001). Those who had CGP were more likely to be enrolled in a clinical trial compared to those who did not have CGP (OR 13.55, CI 5.82 - 31.56).

1 year ago

Clinical • BRCA Biomarker • MSi-H Biomarker • Metastases

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability)

HER-2 positive • TMB-H • MSI-H/dMMR • HER-2 amplification • CCNE1 amplification • BRCA2 amplification

over1year

Determinants of widespread metastases and of metastatic tropism in patients with prostate cancer: A genomic analysis of primary and metastatic tumors. (PubMed, Urol Oncol)

We identified genomic alterations (TP53 mutations, FOXA1/AR amplification, RB1/BRCA2 deletion) from primary prostate carcinomas that are predictive of wide-spread metastases and poor outcome.

over 1 year ago

Journal • BRCA Biomarker • Metastases

TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • FOXA1 (Forkhead Box A1)

TP53 mutation • RB1 deletion • BRCA2 deletion • BRCA1 deletion • AR amplification • BRCA2 amplification • FOXA1 mutation • RB deletion

MSK-IMPACT

2years

Evaluation of clinical benefit and progression-free survival ratio of targeted treatments in a prospective cohort study of patients with biliary tract cancers. (ASCO-GI 2023)

Targeted therapy was actually started for 48 pts (14 %), with 9 pts treated with ivosidenib, 32 with FGFR2 inhibitors, 2 with PD-L1 inhibitor, 6 with BRAF+MEK inhibitor and 1 with an HER2 inhibitor)... Expanded sequencing for BTCs is feasible in real-life and can improve treatment strategy. Analysis of PFS ratio and of treatment outcomes shows clinically meaningful benefit of targeted treatment in pretreated patients.

2 years ago

Clinical • PD(L)-1 Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)

BRAF V600E • BRCA2 mutation • BRCA1 mutation • MSI-H/dMMR • HER-2 amplification • BRAF V600 • IDH1 mutation • FGFR2 mutation • FGFR2 fusion • BRCA2 amplification

FoundationOne® CDx • Oncomine™ Comprehensive Assay Plus

Tibsovo (ivosidenib)

over2years

Comprehensive Analysis of Genomic Alterations in Hepatoid Adenocarcinoma of the Stomach and Identification of Clinically Actionable Alterations. (PubMed, Cancers (Basel))

A total of 10.53% of HAS patients harbored TMB > 10 muts/Mb. These findings improve our understanding of the genomic features of HAS and provide potential therapeutic targets.

over 2 years ago

Journal • BRCA Biomarker

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR1 (Fibroblast growth factor receptor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • TNFA (Tumor Necrosis Factor-Alpha)

TP53 mutation • BRCA2 mutation • BRCA1 mutation • HER-2 amplification • MET amplification • FGFR1 amplification • MDM2 amplification • MDM2 mutation • BRCA2 amplification

over3years

A transcription-based mechanism for oncogenic β-catenin-induced lethality in BRCA1/2-deficient cells. (PubMed, Nat Commun)

Importantly, we find that upregulated p21 expression is essential for the survival of BRCA2-deficient cells and tumours. Thus, our work demonstrates that β-catenin toxicity in cancer cells with compromised BRCA1/2 function is driven by transcriptional alterations that cause aberrant replication and inflict DNA damage.

over 3 years ago

Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

BRCA2 mutation • BRCA1 mutation • BRCA2 amplification

almost4years

Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses. (PubMed, BMC Cancer)

Targeted sequencing of actionable genes is believed to provide clinical applicability and substantial benefits for Taiwanese breast cancer patients. A valid scale of clinical actionability should be adopted for precision medicine practice under multidisciplinary molecular tumor board.

almost 4 years ago

Journal • BRCA Biomarker

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • MDM2 (E3 ubiquitin protein ligase) • NTRK (Neurotrophic receptor tyrosine kinase)

HER-2 amplification • PIK3CA mutation • MDM2 amplification • ER mutation • AKT1 mutation • ERBB3 mutation • BRCA2 amplification

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