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BIOMARKER:

BRCA1 mutation

i
Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
Entrez ID:
Related tests:
20h
Correlation of BRCA and homologous recombination deficiency status with clinical and survival outcomes in patients with advanced-stage ovarian cancer undergoing frontline therapy. (PubMed, Int J Gynecol Cancer)
g/sBRCA+/HRD+ ovarian cancer status is associated with improved survival regardless of primary tumor reductive surgery or neoadjuvant chemotherapy. BRCA-/HRD- status is an adverse prognostic factor for survival.
Journal • BRCA 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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BRCA2 mutation • BRCA1 mutation • HRD
1d
The Effects of BRCA1 and BRCA2 Promoter Methylation on Clinicopathological Characteristics and Clinical Outcomes in HGSOC. (PubMed, Cells)
Full BRCA1/2 promoter methylation was significantly associated with younger age of onset (55 and 58 years, respectively) compared to BRCA1/2-mutated cases, suggestive of BRCAness phenotype. However, in the exploratory analysis of 68 patients with clinical follow-up, we did not find a strong survival advantage for BRCA1/2 methylated over BRCA1/2-intact cases, yet more moderate effects cannot be ruled out due to the cohort size.
Clinical data • 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)
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BRCA2 mutation • BRCA1 mutation
1d
Prevalence of BRCA1 and BRCA2 Germline Mutations in Vietnamese Patients With Triple-Negative Breast Cancer. (PubMed, Cancer Control)
BRCA1/2 mutation carriers were also more frequently premenopausal (78.6% vs 43.9%, P = .025).ConclusionsThere is a high prevalence of BRCA1/2 mutations among TNBC patients in Vietnam. Women with TNBC in Vietnam should be screened for mutations in BRCA1/2.
Journal • BRCA 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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BRCA2 mutation • BRCA1 mutation • BRCA mutation
1d
BRCA and CDK4/6: allies or antagonists?-efficacy of CDK4/6 inhibitors in HR+/HER2- breast cancer with germline BRCA1/2 mutations: a narrative review. (PubMed, Transl Breast Cancer Res)
Future research should focus on biomarker-driven strategies, including combinations to optimize outcomes. These insights may refine clinical guidelines, advocate for personalized treatment algorithms, and stimulate research into resistance mechanisms, ultimately improving care for BRCA-mutated BC patients.
Review • Journal • BRCA Biomarker • PARP Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • BRCA (Breast cancer early onset) • PI3K (Phosphoinositide 3-kinases)
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BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 negative • BRCA mutation
2d
Unique perspectives about men's awareness of BRCA1/2 genetic testing in primary care. (PubMed, Sci Rep)
While 52% perceived prostate cancer as a high-risk condition for men in general, only 22% viewed their own personal risk for prostate cancer as high. Most participants reported not knowing about BRCA1/2 gene mutations, and that they receive health related information from healthcare providers, therefore, primary care providers play a critical role in identifying those at risk by thorough assessment of patients' family cancer history and providing guidance for screening and surveillance.
Journal • BRCA 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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BRCA2 mutation • BRCA1 mutation • BRCA mutation
2d
Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients. (PubMed, Adv Biomed Res)
Young age at onset and having a positive family history of cancer are among the most important criteria to perform genetic testing. Identification of the carriers of pathogenic variants in high-risk families and also recurrent variants in the population will contribute to prevent of HBC.
Journal • BRCA 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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BRCA2 mutation • BRCA1 mutation
3d
Usefulness of Video-Based Intervention in Helping Participants Encourage Their Families to Get Tested for BRCA Gene Mutations (clinicaltrials.gov)
P=N/A, N=58, Completed, Ohio State University Comprehensive Cancer Center | Active, not recruiting --> Completed | Trial completion date: Dec 2025 --> Jun 2025 | Trial primary completion date: Dec 2025 --> Jun 2025
Trial completion • Trial completion date • Trial primary completion date
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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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BRCA2 mutation • BRCA1 mutation • BRCA mutation
4d
POSITIVE: Pregnancy Outcome and Safety of Interrupting Therapy for Women With Endocrine Responsive Breast Cancer (clinicaltrials.gov)
P=N/A, N=518, Active, not recruiting, ETOP IBCSG Partners Foundation | Trial primary completion date: Dec 2025 --> May 2025
Trial primary completion date
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PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA1 mutation • PGR positive
4d
Temporary intraperitoneal breast implant spacer to facilitate safe stereotactic body radiotherapy for recurrent high-grade serous ovarian carcinoma. (PubMed, Gynecol Oncol Rep)
This is the first report, to our knowledge, of the use of a breast implant as a temporary spacer to facilitate safe SBRT in recurrent ovarian cancer. This removable, cost-effective approach offers a feasible solution for anatomically constrained upper abdominal recurrences in close proximity to the bowel.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset)
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BRCA1 mutation
4d
Comprehensive profiling of somatic alterations and HRD characteristics in Chinese germline BRCA-mutated breast cancer patients. (PubMed, Am J Cancer Res)
These findings provide a biological rationale to explore AKT1/HER2-targeted combinations with PARP inhibition in future studies for gBRCA-mutated breast cancer and provide the first evidence of PIK3CA-gBRCA mutual exclusivity in Chinese patients. The elevated HRD scores further underscore the presence of homologous recombination deficiency in the gBRCA group.
Journal • BRCA Biomarker • PARP Biomarker
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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) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • FGFR1 (Fibroblast growth factor receptor 1) • HRD (Homologous Recombination Deficiency) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • MDM2 (E3 ubiquitin protein ligase) • BRCA (Breast cancer early onset)
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TP53 mutation • BRCA2 mutation • BRCA1 mutation • HER-2 amplification • PIK3CA mutation • HRD • PTEN mutation • BRCA mutation
1year
New P2 trial
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HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation • HER-2 negative
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AiRuiYi (fluzoparib)
1year
Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing. (PubMed, Am J Transl Res)
Our comprehensive findings underscore the clinical significance of BRCA1/2 mutations in gastric cancer, advocating for further research to elucidate their mechanistic implications and therapeutic opportunities.
Journal • Next-generation sequencing • 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 • BRCA1 expression • BRCA2 expression