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BIOMARKER:

BRCA deletion

i
Related biomarkers:
8ms
Spatial and single-cell explorations uncover prognostic significance and immunological functions of mitochondrial calcium uniporter in breast cancer. (PubMed, Cancer Cell Int)
Our findings suggest that MCU alterations may be linked to BRCA progression, unveiling new diagnostic and prognostic implications for MCU in BRCA. The study underscores MCU's role in the tumor immune microenvironment and cell cycle progression, positioning it as a potential tool for BRCA precision medicine and drug screening.
Journal • BRCA Biomarker
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CD8 (cluster of differentiation 8) • BRCA (Breast cancer early onset)
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BRCA mutation • BRCA deletion
10ms
Brain metastasis in a patient with BRCA2-mutated treatment-related neuroendocrine prostate carcinoma and long-term response to radiotherapy and Olaparib: A case report and literature review. (PubMed, Medicine (Baltimore))
The patient received docetaxel chemotherapy and pelvic radiotherapy. In a literature review, this case demonstrated the longest duration of effectiveness with olaparib alone without platinum-based chemotherapy. Additionally, the occurrence of relatively rare, fatal brain metastases in prostate cancer after a long period of CR suggests the necessity of regular brain imaging examinations.
Review • Journal • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BRCA (Breast cancer early onset) • ERG (ETS Transcription Factor ERG) • TMPRSS2 (Transmembrane serine protease 2)
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BRCA2 mutation • BRCA2 deletion • BRCA1 deletion • AR amplification • TMPRSS2-ERG fusion • BRCA deletion
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Lynparza (olaparib) • docetaxel
over1year
Talazoparib in Treating Patients With Recurrent, Refractory, Advanced, or Metastatic Cancers and Alterations in the BRCA Genes (clinicaltrials.gov)
P2, N=150, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2023 --> Dec 2025 | Trial primary completion date: Dec 2022 --> Dec 2025
Trial completion date • Trial primary completion date • Tumor mutational burden • Metastases
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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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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA mutation • BRCA deletion
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Talzenna (talazoparib)
almost2years
Detection of intraductal carcinoma of the prostate (IDCP) cases focusing on high-grade prostatic intraepithelial neoplasia (PIN) findings regarding invasive carcinoma of the prostate (AACR 2023)
We were able to establish IDCP cases from past high-grade PIN cases. As a number of HRR gene mutations of unknown pathological significance were detected, IDCP cases could be retrieved from past cases and genetic abnormalities could be identified efficiently. The findings of the study provide a possible approach to diagnose prostate cancer cases with genetic mutations at an early stage.
Clinical • 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) • HRD (Homologous Recombination Deficiency) • RB1 (RB Transcriptional Corepressor 1) • BRCA (Breast cancer early onset) • ERG (ETS Transcription Factor ERG) • TMPRSS2 (Transmembrane serine protease 2) • USH2A (Usherin) • FANCC (FA Complementation Group C)
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PTEN deletion • PTEN mutation • RB1 deletion • BRCA mutation • TMPRSS2-ERG fusion • BRCA deletion
almost2years
Clinical
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
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TP53 mutation • BRCA2 mutation • TP53 expression • TP53 overexpression • BRCA mutation • BRCA deletion
2years
Prognosis of ovarian cancer patients with the Mexican founder mutation (a BRCA1 long genomic rearrangement) compared with other BRCA1/2 mutations (ESMO-GC 2023)
Conclusions Patients with the Mexican founder BRCA1 mutation treated with first line platinum-based chemotherapy have better survival compared with patients with other BRCA1/2 mutations. Legal entity responsible for the study J.A. Bahena.
Clinical • 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 • BRCA deletion
over2years
Genotype-phenotype correlation in diverse pathogenic variants in BRCA genes in patients with ovarian cancer: Focusing in prognosis and predictive role of each one (ESMO 2022)
In general, in our population ovarian cancer associated to BRCA mutation has worse prognosis than sporadic ovarian cancer (BRCA negative). In the other hand, the cases with the large deletion in exons 9-12 in BRCA1 gene has almost the double risk of primary resistance to platinum treatment versus any other pathogenic variant.
Clinical • 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 deletion • BRCA1 deletion • BRCA mutation • BRCA deletion
over2years
TALAPRO-1: Talazoparib monotherapy in metastatic castration-resistant prostate cancer (mCRPC) with DNA damage response alterations (DDRm) – Exploration of tumor genetics associated with prolonged benefit (ESMO 2022)
Conversely, TP53 alterations were less common for men with rPFS ≥12 months vs <2 months (2/16 vs 14/27; P=0.02 Fisher's exact test, 2-tails), potentially reflecting negative prognosis or a subgroup less sensitive to PARP inhibition. Conclusions Based on these retrospective, exploratory analyses of TALAPRO-1, men exhibiting prolonged benefit typically exhibited BRCA2 copy number loss or homozygous alterations, and lacked TP53 alterations.
PARP Biomarker • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
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BRCA2 mutation • BRCA deletion
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FoundationOne® CDx
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Talzenna (talazoparib)
over2years
Integrated analysis of pivotal biomarker of LSM1, immune cell infiltration and therapeutic drugs in breast cancer. (PubMed, J Cell Mol Med)
Most importantly, pharmacogenetic analysis of BRCA cell lines revealed that LSM1 inactivation was associated with increased sensitivity to refametinib and trametinib. However, both drugs could mimic the effects of LSM1 inhibition and their drug sensitivity was associated with MEK molecules. Therefore, we investigated the clinical application of LSM1 to provide a basis for sensitive diagnosis, prognosis and targeted treatment of breast cancer.
Journal • BRCA Biomarker
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BRCA (Breast cancer early onset) • LSM1 (LSM1 Homolog, MRNA Degradation Associated)
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BRCA deletion
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Mekinist (trametinib) • refametinib (BAY86-9766)
over2years
Exposure to escalating olaparib does not induce acquired resistance to PARPi and to other chemotherapeutic compounds in ovarian cancer cell lines. (PubMed, Int J Oncol)
Poly (ADP‑ribose) polymerase (PARP)‑inhibitors (PARPi) such as olaparib and niraparib are currently used as a treatment option for BRCA‑deficient tumors and also show efficacy in platinum‑sensitive tumors...In the present study, it was investigated whether stepwise exposure of ovarian cancer cells to escalating concentrations of olaparib produced subcells with acquired resistance to PARPi and/or acquired cross‑resistance to platinum compounds, paclitaxel, and doxorubicin...Moreover, PARPi sensitivity associated with cross‑sensitivity not only to platinum compounds but also to anthracylines, paclitaxel, and inhibitors of histone deacetylases. These in vitro data indicated that olaparib exposure is unlikely to produce an acquired resistance phenotype and that PARPi‑sensitive ovarian cancer cells are also cross‑sensitive to non‑platinum and even to compounds not directly interacting with the DNA.
Preclinical • Journal • BRCA Biomarker • PARP Biomarker
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BRCA (Breast cancer early onset)
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TP53 mutation • BRCA mutation • BRCA deletion
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Lynparza (olaparib) • paclitaxel • doxorubicin hydrochloride • Zejula (niraparib)
over2years
Germline mutations in ATM, CHEK2, and other known/potential breast cancer susceptibility genes among BRCA-negative Uruguayan patients with breast cancer. (ASCO 2022)
Of the 42 BRCA-negative cases, 4 (9.5%) carried a PV in a cancer susceptibility gene. The negative results obtained with MLPA in cases negative for BRCA and the extended genetic panel suggest that large deletions of BRCA are not a relevant cause of cancer susceptibility in this cohort. Otherwise, whole exome sequencing of 22 cases negatives for the previous genetic test showed pathogenic or probably PV in genes with no current evidence of association with breast and ovarian cancer.
Clinical • 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) • BRCA (Breast cancer early onset) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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ATM mutation • BRCA2 deletion • CHEK2 mutation • BRCA1 deletion • BRCA deletion • BRCA1 negative
over2years
SET8 Inhibition Potentiates Radiotherapy by Suppressing DNA Damage Repair in Carcinomas. (PubMed, Biomed Environ Sci)
Our results demonstrated that SET8 inhibition enhanced radiosensitivity by suppressing DNA damage repair, thus suggesting that SET8 potentiated radiotherapy of carcinomas. As new inhibitors of SET8 are synthesized and tested in preclinical and clinical settings, combining SET8 inhibitors with radiation warrants consideration for precise radiotherapy.
Journal • BRCA Biomarker
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BRCA (Breast cancer early onset) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
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BRCA deletion
almost3years
Tissue specificity of chromosome aneuploidy correlates with BRCA-associated cancer risk (AACR 2022)
Consistent with TCGA results, OV and BRCA showed higher frequencies of 17q and 13q deletion compared to other cancer types. To conclude, we identified a correlation between cross-cancer difference in arm-level and focal chromosome aneuploidy affecting BRCA1/2 and BRCA-associated cancer risk, and how chromosome aneuploid may give rise to tissue-specific risks of cancer remain to be investigated.
BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • DRD (DNA Repair Deficiency)
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DDR • BRCA wild-type • BRCA2 deletion • BRCA1 deletion • BRCA deletion • DRD
almost3years
High prevalence and heterogeneity of emergence of BRCA reversion mutations at progression on niraparib treatment in BRCA-mutant metastatic castration-resistant prostate cancer (mCRPC) patients (AACR 2022)
Additionally, patients with reversions trended to have longer median radiographic progression-free survival compared to those without or low reversions (8.1 vs 5.5 mo, p=0.12). In conclusion, the high prevalence of patients with BRCA reversion mutations and the displayed longer benefit from niraparib underscores the dependence of these tumors on BRCA mutation as an oncogenic driver and reversion mutations as a marker of secondary resistance to niraparib treatment.
Clinical • 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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BRCA2 mutation • BRCA1 mutation • BRCA mutation • BRCA deletion
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Zejula (niraparib)
almost3years
Talazoparib in Treating Patients With Recurrent, Refractory, Advanced, or Metastatic Cancers and Alterations in the BRCA Genes (clinicaltrials.gov)
P2, N=150, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting
Enrollment closed
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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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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA mutation • BRCA deletion
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Talzenna (talazoparib)
3years
Structural and functional analysis of somatic coding and UTR indels in breast and lung cancer genomes. (PubMed, Sci Rep)
More importantly, these somatic indels in cancer genomes tend to locate in sequences with important functions, which can affect the core secondary structures of proteins and have a bigger overlap with predicted TFBSs in coding regions than the germline indels. The somatic CDS indels are also enriched in highly conserved nucleotides when compared with germline CDS indels.
Journal • BRCA Biomarker
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BRCA (Breast cancer early onset)
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BRCA deletion
3years
Serially biopsied BRCA1/2 mutant breast tumors frequently acquire alterations in BRCA1, BRCA2, and CREBBP (SABCS 2021)
Conclusions Analysis of serially biopsied BRCA m breast cases revealed frequent acquisition of BRCA1/2 reversion mutations and CREBBP alterations that are not frequently observed in BRCA wt samples. Additional studies are warranted to investigate the possible role of CREBBP in PARPi therapy resistance.
PARP Biomarker • BRCA Biomarker
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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) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • BRCA (Breast cancer early onset) • CREBBP (CREB binding protein)
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BRCA2 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • CREBBP mutation • BRCA mutation • BRCA deletion
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FoundationOne® CDx • FoundationOne® Liquid CDx
over3years
[VIRTUAL] Ovarian cancer onset across different BRCA mutation type (ESGO 2021)
If confirmed in larger series, it might have a relevant clinical impact, leading to a more tailored approach for risk-reducing surgery strategies for OC prevention. Moreover, as we initially include only advanced stages in our analysis, further investigation on the time of onset of early BRCA mutated OC is currently ongoing.
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 • BRCA deletion
over3years
Talazoparib in Treating Patients With Recurrent, Refractory, Advanced, or Metastatic Cancers and Alterations in the BRCA Genes (clinicaltrials.gov)
P2, N=150, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2020 --> Dec 2023 | Trial primary completion date: Dec 2020 --> Dec 2022
Clinical • 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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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA mutation • BRCA deletion
|
Talzenna (talazoparib)
over3years
Biomarkers Associating with PARP Inhibitor Benefit in Prostate Cancer in the TOPARP-B Trial. (PubMed, Cancer Discov)
BRCA1/2 germline and somatic pathogenic mutations associated with similar benefit from olaparib; greater benefit was observed with homozygous BRCA deletion...RAD51 foci loss identified tumors with biallelic BRCA and PALB2 alteration while most ATM- and CDK12-altered APCs had higher RAD51 foci levels. Overall, APCs with homozygous BRCA2 deletion are exceptional responders; PALB2 biallelic loss and loss of ATM immunohistochemical expression associated with clinical benefit.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • RAD51 (RAD51 Homolog A)
|
BRCA2 deletion • BRCA1 deletion • ATM expression • BRCA deletion
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Lynparza (olaparib)
over3years
Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis. (PubMed, Glob Med Genet)
Conclusion  The BRCA MASTR Plus assay on the MiSeq platform is accurate and reproducible for germline BRCA genetic testing, making it suitable for use in a clinical diagnostic laboratory. However, Sanger sequencing may still serve as a confirmatory method to improve diagnostic capability of the MPS assay.
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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BRCA deletion
4years
Sarcomatoid Mesothelioma: A CDKN2A molecular analysis of 53 cases with immunohistochemical correlation with BAP1. (PubMed, Pathol Res Pract)
Our findings showed that even though the use of BAP1 and p16 are important tools in the diagnosis of mesothelioma, a proportion of cases still remains negative with approximately 30 % of the cases in which the concordance of BAP1 loss and p16 homozygous deletion will not be present. We consider that the final diagnosis of mesothelioma is best accomplished by a global interpretation of clinical, radiographic, and pathological features including immunohistochemistry and molecular studies.
Clinical • Journal • BRCA Biomarker
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • BRCA (Breast cancer early onset)
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CDKN2A deletion • BAP1 deletion • BRCA deletion
4years
Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients. (PubMed, Saudi J Biol Sci)
Among the mutations detected in our study, TP53 (p.R81X), VHL (p.E52X), and BRCA2 (p.K3326X) mutations, which lead to an aberrant transcript with a premature stop codon, were reported for the first time in breast cancer patients from Saudi Arabia. Our study will help in identifying the damaging mutations and predisposing genes in Saudi breast cancer patients.
Clinical • Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • RAD50 (RAD50 Double Strand Break Repair Protein)
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TP53 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • RAD50 mutation • BRCA mutation • BRCA deletion
almost5years
Clinical • P2 data • Combination therapy • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • BRCA (Breast cancer early onset) • FANCA (FA Complementation Group A) • ATR (Ataxia telangiectasia and Rad3-related protein) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • HDAC2 (Histone deacetylase 2) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
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PD-L1 expression • ARID1A mutation • BAP1 mutation • BRIP1 mutation • FANCA mutation • BAP1 deletion • RAD50 mutation • BARD1 mutation • BLM mutation • BRCA mutation • NBN mutation • BRCA deletion
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Opdivo (nivolumab) • Talzenna (talazoparib)
almost5years
[VIRTUAL] Characterization of patients (pts) with long-term responses to rucaparib in recurrent ovarian cancer (OC). (ASCO 2020)
Long-term responders to rucaparib include OC with BRCA mutation, particularly homozygous deletion or rearrangements, which would not be susceptible to somatic reversion mutations, as well as BRCA1 hypermethylation, and RAD51C/D mutations. Research Funding: Clovis Oncology, Inc.
Clinical • 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) • RAD51C (RAD51 paralog C)
|
BRCA1 mutation • HRD • RAD51C mutation • BRCA mutation • BRCA deletion • BRCA1 hypermethylation
|
Rubraca (rucaparib)
5years
Talazoparib in Treating Patients With Recurrent, Refractory, Advanced, or Metastatic Cancers and Alterations in the BRCA Genes (clinicaltrials.gov)
P2, N=150, Recruiting, M.D. Anderson Cancer Center | Trial primary completion date: Dec 2019 --> Dec 2020
Clinical • Trial primary completion date • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA mutation • BRCA deletion
|
Talzenna (talazoparib)
almost7years
Clinical • Trial completion • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
|
BRCA2 mutation • BRCA1 mutation • BRCA deletion