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    BIOMARKER:

    BRCA1 promoter methylation

    i
    Other names: BRCA1, BRCC1, PPP1R53, RNF53, Breast cancer 1, early onset
    Entrez ID:
    672
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    8ms
    Prognostic significance of BRCA1 and BRCA2 methylation status in circulating cell-free DNA of Pancreatic Cancer patients. (PubMed, J Cancer)
    BRCA1 and BRCA2 methylation was significant and correlated with decreased survival in patients with operable pancreatic cancer. A larger cohort of patients is required to further explore the potential of these findings as well as to investigate whether BRCA1/2 methylation in plasma could serve as a potential prognostic biomarker in pancreatic cancer.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    BRCA1 negative • BRCA1 promoter methylation
    1year
    Exploring homologous recombination deficiency threshold for predicting response to PARP inhibitor in prostate cancer (ESMO Asia 2023)
    Conclusions HRD positive, defined as GIS score >9, may be an appropriate threshold to predict the likelihood of response to PARPi in prostate cancer. Prospective, and large sample clinical trials will be needed to confirm our findings.
    BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    |
    BRCA2 mutation • BRCA1 mutation • HRD • HRD + BRCA1 mutation • BRCA1 promoter methylation • High HRD score
    over1year
    Olaparib (O) in advanced triple negative breast cancer (aTNBC) patients (pts) with BRCA1/2 promoter methylation: GEICAM/2015-06 study (COMETA-Breast). (ASCO 2023)
    In this proof-of-concept study, O did not show clinically nor statistically significant antitumor activity in pretreated aTNBC pts with BRCA1/2-meth. Clinical trial information: NCT03205761. >*7 pts had ≥3 CT lines.
    Clinical • PARP Biomarker • BRCA Biomarker • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PMS2 (PMS1 protein homolog 2) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 promoter methylation
    |
    Tempus xE • Tempus xF Assay
    |
    Lynparza (olaparib)
    almost2years
    COMETABreast: Analysis of Olaparib Response in Patients With BRCA1 and/or 2 Promoter Methylation Diagnosed of Advanced Breast Cancer (clinicaltrials.gov)
    P2, N=11, Completed, Spanish Breast Cancer Research Group | Active, not recruiting --> Completed
    Trial completion • Metastases
    |
    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) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 expression • PGR expression • BRCA1 promoter methylation • BRCA2 expression
    |
    Lynparza (olaparib)
    almost3years
    COMETABreast: Analysis of Olaparib Response in Patients With BRCA1 and/or 2 Promoter Methylation Diagnosed of Advanced Breast Cancer (clinicaltrials.gov)
    P2, N=11, Active, not recruiting, Spanish Breast Cancer Research Group | Recruiting --> Active, not recruiting | N=34 --> 11 | Trial completion date: Dec 2021 --> Dec 2022 | Trial primary completion date: Dec 2021 --> Dec 2022
    Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date
    |
    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) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 expression • PGR expression • BRCA1 promoter methylation • BRCA2 expression
    |
    Lynparza (olaparib)
    over3years
    Examination of ATM, BRCA1, and BRCA2 promoter methylation in patients with pancreatic cancer. (PubMed, Pancreatology)
    We found no evidence of germline promoter methylation for the pancreatic susceptibility genes ATM, BRCA1 and BRCA2 in patients with pancreatic cancer. This study reveals that constitutive germline methylation of promoter CpG islands is rare in pancreatic cancer.
    Clinical • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase)
    |
    BRCA1 promoter methylation
    almost4years
    COMETABreast: Analysis of Olaparib Response in Patients With BRCA1 and/or 2 Promoter Methylation Diagnosed of Advanced Breast Cancer (clinicaltrials.gov)
    P2, N=34, Recruiting, Spanish Breast Cancer Research Group | Trial completion date: Dec 2020 --> Dec 2021 | Trial primary completion date: Dec 2020 --> Dec 2021
    Clinical • Trial completion date • Trial primary completion date • BRCA Biomarker • PARP Biomarker
    |
    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) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 expression • BRCA1 promoter methylation • BRCA2 expression
    |
    Lynparza (olaparib)
    almost4years
    BRCA Methylation Testing Identifies a Subset of Ovarian Carcinomas without Germline Variants That Can Benefit from PARP Inhibitor. (PubMed, Int J Mol Sci)
    Remarkably, a considerable subset of germline BRCA-negative EOCs showed somatic methylation and, likely, HRD. A subpopulation of women with BRCA methylation, even without BRCA mutations, could potentially benefit from PARP-inhibitors; further clinical studies are needed to clarify the predictive role of somatic BRCA methylation of PARP-therapy response.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HRD • HRD + BRCA1 mutation • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 promoter methylation
    over4years
    COMETABreast: Analysis of Olaparib Response in Patients With BRCA1 and/or 2 Promoter Methylation Diagnosed of Advanced Breast Cancer (clinicaltrials.gov)
    P2, N=34, Recruiting, Spanish Breast Cancer Research Group | Trial completion date: May 2020 --> Dec 2020 | Trial primary completion date: May 2020 --> Dec 2020
    Clinical • Trial completion date • Trial primary completion date • BRCA Biomarker • PARP Biomarker
    |
    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) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 expression • BRCA1 promoter methylation • BRCA2 expression
    |
    Lynparza (olaparib)
    over4years
    The association between the methylation frequency of BRCA1/2 gene promoter and occurrence and prognosis of breast carcinoma: A meta-analysis. (PubMed, Medicine (Baltimore))
    Fifty-eight articles including 19,084 individuals met full eligibility criteria. We observed that the frequency of BRCA1 gene promoter methylation was higher in breast cancer tissues compared with normal tissues, and the prognostic analysis suggested that BRCA1 gene promoter methylation was significantly associated with poor overall survival and poor disease-free survival. This study also verified that there was no statistically significant difference in the methylation frequency of BRCA1 gene promoter between peripheral blood and tumor tissues in breast cancer patients, which suggests that the detection of BRCA1 promoter methylation in peripheral blood may be a non-invasive and rapid way to monitor the occurrence breast cancer.
    Retrospective data • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset)
    |
    BRCA1 promoter methylation
    almost5years
    COMETABreast: Analysis of Olaparib Response in Patients With BRCA1 and/or 2 Promoter Methylation Diagnosed of Advanced Breast Cancer (clinicaltrials.gov)
    P2, N=34, Recruiting, Spanish Breast Cancer Research Group | Trial completion date: Jan 2020 --> May 2020 | Trial primary completion date: Dec 2019 --> May 2020
    Clinical • Trial completion date • Trial primary completion date • BRCA Biomarker • PARP Biomarker
    |
    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) • BRCA (Breast cancer early onset)
    |
    BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 expression • BRCA1 promoter methylation • BRCA2 expression
    |
    Lynparza (olaparib)