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GENE:

BRCA1 (Breast cancer 1, early onset)

i
Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
21h
A prospective observational study of pancreatic cancer risk in men and women with pathogenic variants in BRCA1 or BRCA2. (PubMed, BJC Rep)
BRCA1/2 carriers had three times more cases of PC than expected, suggestively higher among female BRCA2 and male BRCA1 carriers. Cumulative risk of PC at 70 years in the latter two groups was less than 3% (0.5% and 0.7% in all Norwegian males and females observed until age 70 based on population data).
Observational data • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
21h
Imaging Surveillance and Risk-Based Management of Known Genetic Mutations in Breast Cancer: A Radiologist's Guide. (PubMed, J Breast Imaging)
Radiologists play a central role in longitudinal surveillance and in counseling about risk-reducing options in coordination with genetics and surgery. These points translate the evidence into practical, gene-informed imaging care for patients with inherited breast cancer risk.
Review • Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
1d
Germline Pathogenic Variants Among Women Without a History of Breast Cancer: A Secondary Analysis of the WISDOM Randomized Clinical Trial. (PubMed, JAMA Intern Med)
These findings support broader access to genetic testing as part of personalized breast cancer risk assessment. ClinicalTrials.gov Identifier: NCT02620852.
Clinical • Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2)
1d
Rucaparib in refractory pleural mesothelioma harboring somatic pathogenic BRCA1 and BRCA2 mutation. A report of two cases. (PubMed, Lung Cancer Manag)
Targeted agents did not demonstrate a significant clinical benefit in mesothelioma treatment, nevertheless a small group of patients might harbor potentially actionable somatic mutations, as in homologous repair recombination genes. In this paper we report two cases of patients with heavily pretreated pleural mesothelioma that had a relevant clinical benefit with rucaparib treatment based on somatic BRCA 1 and BRCA 2 mutations detected through next generation sequencing.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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BRCA mutation
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Rubraca (rucaparib)
1d
Integrating molecular targeting and immune modulation in triple-negative breast cancer: from mechanistic insights to therapeutic innovation. (PubMed, Front Immunol)
Therapies targeting DNA repair pathways, angiogenesis, and androgen receptor signaling-particularly via PARP inhibitors and antibody-drug conjugates like sacituzumab govitecan-have demonstrated clinical benefit...This review delineates recent developments in targeted and immunotherapeutic strategies, emphasizing the role of TILs in shaping treatment response and highlighting combinatorial approaches that synergize molecular targeting with immunomodulation. Through a comprehensive understanding of TNBC's molecular and immune landscape, we propose new therapeutic trajectories to improve clinical outcomes in this challenging malignancy.
Review • Journal • BRCA Biomarker • PARP Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • mTOR (Mechanistic target of rapamycin kinase) • PI3K (Phosphoinositide 3-kinases)
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HER-2 amplification
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Trodelvy (sacituzumab govitecan-hziy)
1d
P076 Breast cancer screening in patients with frontal fibrosing alopecia. (PubMed, Br J Dermatol)
The results of this study support possible correlation of FFA with breast cancer. The main benefit will be early screening of patients with FFA at risk of breast cancer along with the potential for new therapies.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset)
2d
Enhancing PARP inhibitor efficacy in ovarian cancer: targeting the PI3K/AKT/mTOR pathway. (PubMed, J Ovarian Res)
Furthermore, emerging data from biomarker-driven clinical trials highlight the importance of molecular stratification in optimizing treatment outcomes. Integrating PI3K/AKT/mTOR inhibition with PARP blockade represents a promising strategy to expand the therapeutic reach of PARP inhibitors and improve clinical outcomes in ovarian cancer.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
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HRD • BRCA wild-type
2d
Olaparib in the Treatment of BRCA1/2 Unmutated and BRCA1 Promoter Methylated Recurrent and Metastatic Triple-negative Breast Cancer (clinicaltrials.gov)
P2, N=30, Not yet recruiting, Hebei Medical University Fourth Hospital | Trial completion date: Sep 2024 --> Sep 2031 | Trial primary completion date: Sep 2023 --> Sep 2030
Trial completion date • Trial primary completion date
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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HER-2 negative
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Lynparza (olaparib)
3d
Processed Transcript Insertion as a Novel Germline Mutational Mechanism in BRCA1-Associated Hereditary Breast Cancer. (PubMed, Cancers (Basel))
This study identifies, for the first time, a heritable processed transcript insertion as a pathogenic event in BRCA1. Such variants are undetectable by conventional diagnostic workflows lacking structural variant analysis, highlighting the importance of comprehensive approaches for accurate diagnosis and genetic counselling in hereditary cancer syndromes.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset)
3d
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient. (PubMed, Cancers (Basel))
Rare variants in immune-related genes, such as PRF1 p.Ala91Val, may influence BRCA1 penetrance. Broader exome-wide analyses comparing affected vs. unaffected BRCA1/2 mutation carriers, or women stratified by age at cancer onset, could help identify additional genetic modifiers of cancer risk.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PRF1 (Perforin 1)
3d
Therapeutic Advances in Metastatic Prostate Cancer: A Journey from Standard of Care to New Emerging Treatment. (PubMed, Int J Mol Sci)
We detail the evidence supporting the integration of systemic agents like abiraterone, enzalutamide, and darolutamide into both hormone-sensitive and castration-resistant settings. Furthermore, we highlight the expanding role of radioligand therapies, including radium-223 and Lutetium-177-labeled PSMA-617 (Lu-PSMA-617), as well as the growing impact of PARP inhibitors in genomically selected patients. The emergence of theranostic strategies and next-generation sequencing has paved the way for personalized treatment algorithms, moving toward a truly precision oncology model in PCa. This comprehensive review synthesizes current therapeutic strategies, clinical trial evidence, and future directions aimed at optimizing outcomes and quality of life for patients with advanced prostate cancer.
Review • Journal • BRCA Biomarker • PARP Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog)
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TP53 mutation • PTEN mutation
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Xtandi (enzalutamide) • abiraterone acetate • Nubeqa (darolutamide) • apalutamide • Pluvicto (lutetium Lu 177 vipivotide tetraxetan) • Xofigo (radium Ra-223 dichloride)
3d
SLX1 Inhibition Enhances Olaparib Sensitivity by Impairing Homologous Recombination Repair in Breast Cancer. (PubMed, Int J Mol Sci)
In vivo, SLX1 knockdown synergizes with Olaparib to suppress tumor growth in xenograft models. These findings establish SLX1 as a critical regulator of HR function in BRCA1-proficient breast cancer and a promising target for restoring PARP inhibitor sensitivity through induced HR deficiency.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A)
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Lynparza (olaparib)