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BIOMARKER:

BRCA1 mutation

i
Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
Entrez ID:
Related tests:
1d
Discovery and optimization of 1H-pyrazolo[3,4-d]pyrimidine-3-carboxamide derivatives as USP1 inhibitors for BRCA1-mutant cancer treatment. (PubMed, Bioorg Chem)
Moreover, molecular docking and dynamics studies were performed to elucidate the detailed binding mechanism of compound 18 with USP1. Taken together, this study presents a promising class of 1H-pyrazolo[3,4-d]pyrimidine-3-carboxamide derivatives as novel USP1 inhibitors with significant therapeutic potential for the treatment of BRCA1-mutant cancers.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • USP1 (Ubiquitin Specific Peptidase 1)
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BRCA1 mutation • BRCA wild-type
1d
A rare case of uterine carcinosarcoma in a 21-year-old woman with hereditary breast and ovarian cancer syndrome: A case report. (PubMed, Oncol Lett)
The patient was treated with four cycles of paclitaxel and carboplatin, followed by an additional four cycles of combination chemotherapy with durvalumab...Maintenance therapy with durvalumab and olaparib was initiated, and the patient has remained progression-free for 10 months...The case highlights the value of genomic profiling and germline testing for personalized treatment strategies. The successful use of platinum-based chemotherapy, immune checkpoint blockade and poly (ADP-ribose) polymerase inhibition to treat this HRD-positive, mismatch repair-proficient tumor demonstrates the potential of biomarker-driven therapy for UCS.
Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency)
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TP53 mutation • BRCA1 mutation • PIK3CA mutation • HRD
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Lynparza (olaparib) • carboplatin • Imfinzi (durvalumab) • paclitaxel
3d
NRG-GY023: Comparison of Standard of Care Treatment With a Triplet Combination of Targeted Immunotherapeutic Agents (clinicaltrials.gov)
P2, N=120, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Nov 2026 --> Mar 2027
Trial completion date • Platinum resistant
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation
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Avastin (bevacizumab) • Lynparza (olaparib) • Imfinzi (durvalumab) • paclitaxel • pegylated liposomal doxorubicin • topotecan • Recentin (cediranib) • Myocet (non-pegylated liposomal doxorubicin) • Duomeisu (pegylated liposomal doxorubicin)
4d
TRIFOUR: Nadunolimab in Combination With Gemcitabine Plus Carboplatin in Patients With Advanced Triple Negative Breast Cancer. (clinicaltrials.gov)
P1/2, N=117, Active, not recruiting, Cantargia AB | Trial primary completion date: Jun 2025 --> Apr 2026
Trial primary completion date • BRCA Companion diagnostic • PARP Companion diagnostic
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CD4 (CD4 Molecule)
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BRCA2 mutation • BRCA1 mutation • HER-2 negative • HER-2 negative + HR negative • HER-2 negative + HR negative + BRCA mutation
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PD-L1 IHC 22C3 pharmDx • Prosigna™ Breast Cancer Prognostic Gene Signature Assay
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carboplatin • gemcitabine • nadunolimab (CAN04)
4d
Distinct biological and molecular characteristics of breast cancer in young women: a narrative review. (PubMed, Ann Med Surg (Lond))
This review synthesizes current knowledge on the unique tumor biology of breast cancer in young women, highlighting the need for precision oncology approaches that account for age-related tumor behavior. Enhanced characterization of this population may ultimately improve survival outcomes and quality of life for young women affected by breast cancer.
Review • Journal • BRCA Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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HER-2 positive • TP53 mutation • BRCA2 mutation • BRCA1 mutation
5d
Comparative Analysis of Homologous Recombination Repair Status Across Gynecologic and Breast Cancers in Chinese Populations. (PubMed, Curr Cancer Drug Targets)
The mutational patterns affecting homologous recombination repair differ across gynecologic and breast cancers. Further research into cancer-specific HRD mechanisms is warranted.
Journal • Tumor mutational burden • BRCA Biomarker • PARP Biomarker
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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) • HRD (Homologous Recombination Deficiency) • JAK2 (Janus kinase 2) • PALB2 (Partner and localizer of BRCA2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • BRCA (Breast cancer early onset) • EPHA5 (EPH Receptor A5)
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TP53 mutation • BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HRD • PALB2 mutation • BRCA mutation
5d
Clinically actionable alterations in Indian breast cancer patients derived through whole transcriptome sequencing. (PubMed, Indian J Med Res)
Fusion transcript analysis identified 91 recurrent fusions, including novel partners with ERBB2, MED1, and CDK12, suggesting the possibility of unique molecular events. Interpretation and conclusions This study demonstrates that Indian breast cancer patients exhibit molecular subtypes and actionable mutations comparable to Caucasian cohorts.
Review • Journal • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDK12 (Cyclin dependent kinase 12) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase)
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HER-2 positive • TP53 mutation • BRCA2 mutation • ER positive • BRCA1 mutation • PIK3CA mutation • HER-2 expression • PTEN mutation • FGFR2 mutation • AKT1 mutation
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Prosigna™ Breast Cancer Prognostic Gene Signature Assay
7d
NCI-2018-00115: Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability (clinicaltrials.gov)
P2, N=21, Active, not recruiting, Rutgers, The State University of New Jersey | Recruiting --> Active, not recruiting | N=40 --> 21 | Trial completion date: Oct 2023 --> Sep 2027
Enrollment closed • Enrollment change • Trial completion date • Pan tumor
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PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • POLE (DNA Polymerase Epsilon) • POLD1 (DNA Polymerase Delta 1)
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BRCA1 mutation • POLD1 mutation
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Keytruda (pembrolizumab)
7d
Invasive lobular and ductal breast cancers: a systematic review and metanalysis in association with BRCA1/2 mutation status. (PubMed, Eur J Cancer)
In studies with lower risk of bias, germline BRCA2 mutations were more frequent in patients with ILC than IDC. Conversely, BRCA1 mutations are more frequently observed in IDC, particularly among younger patients and those with a positive family history of BC.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation
7d
Mutant p53 Directs PARP to Regulate Replication Stress and Drive Breast Cancer Metastasis. (PubMed, bioRxiv)
The PARP inhibitor talazoparib (TAL) combined with the alkylating agent temozolomide (TMZ) produces synergistic cytotoxicity selectively in mtp53, but not wild-type p53 (wtp53), breast cancer cells and organoids. These findings reveal a previously unrecognized mechanism by which the mutant p53-PARP axis enables replication stress tolerance and drives cancer metastasis. We show mutation of p53 in TNBC provides an additional biomarker-guided framework to improve PARPi therapeutic outcomes.
Journal • BRCA Biomarker • PARP Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • PARP1 (Poly(ADP-Ribose) Polymerase 1)
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TP53 mutation • BRCA1 mutation • TP53 wild-type
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temozolomide • Talzenna (talazoparib)
7d
Cancer Genomic Medicine for Urological Malignancies in Japan. (PubMed, Int J Urol)
In the field of urological malignancies, the approval of olaparib for metastatic castration-resistant prostate cancer with BRCA1/2 mutations has led to the practical application of cancer genomic medicine in many cases. However, various challenges exist in its implementation and clinical utilization. This review outlines cancer genomic medicine in urological malignancies, focusing on the types and characteristics of genetic tests performed in clinical settings, as well as the accessibility of treatments based on their results.
Review • Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation
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Lynparza (olaparib)
7d
Albumin Nanoparticle-Based Delivery of Oxaliplatin-Oleic Acid Prodrug for Enhanced Breast Cancer Therapy. (PubMed, AAPS PharmSciTech)
In vivo, OXA-OA Alb NPs achieved ~ 90% tumor inhibition in a TNBC mouse model, with minimal systemic toxicity, stable liver and kidney function, and reduced organ damage compared with other treatment groups. These findings suggest that OXA-OA Alb NPs offer a promising and safer approach for TNBC, with potential for further exploration in preventing metastasis and recurrence.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation
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oxaliplatin