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BIOMARKER:

BRCA2 deletion

i
Entrez ID:
2ms
Deletions Rate-Limit Breast and Ovarian Cancer Initiation. (PubMed, bioRxiv)
Single-cell analyses confirmed deletion rate differences in gBRCA1/2 vs. non-carrier tumors as well as cells engineered to harbor gBRCA1/2 . The centrality of deletion-associated chromosomal instability to tumorigenesis shapes interpretation of the somatic evolution of non-malignant tissue and guides strategies for precision prevention and early detection.
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 • BRCA2 deletion • BRCA1 deletion
2ms
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants. (PubMed, Hered Cancer Clin Pract)
The spectrum of pathogenic variants in the BRCA1/2 genes in La Rioja is similar to that in other Spanish regions, with some unique characteristics. The pathogenic c.6024dupG variant in the BRCA2 gene was detected in a large number of families and could have a founding effect in the Ebro riverside areas in the regions of La Rioja and Navarra.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
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MK-0752
2ms
Chromosome 13q deletion and lethal prostate cancer: Biomarker to cancer therapeutics (PCF 2024)
Our study aims to systematically evaluate how Chr13q deletion impacts the progression of PC and its susceptibility to treatment. We anticipate that our study will establish a solid foundation of knowledge that can be used to identify aggressive primary PC and the related risk of progressing to lethal CRPC. This will help develop more effective treatments for patients with aggressive and lethal PC, particularly those with Chr13q..
BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1)
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BRCA wild-type • RB1 deletion • BRCA2 deletion • BRCA1 deletion • RB deletion
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MSK-IMPACT
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
11ms
Multiomic profiling reveals predictive molecular characteristics of response to neoadjuvant anibody-drug conjugate versus chemotherapy and dual HER2 blockade in HER2 positive breast cancer (EBCC 2024)
Background : The PREDIX HER2 trial (n=202) compared neoadjuvant docetaxel, trastuzumab, and pertuzumab (DHP) vs. trastuzumab emtansine (T-DM1) in HER2-positive breast cancer, resulting in similar pathologic complete response (pCR) rates. Conclusion : Using multiomics analysis in a randomized trial, we show that T-DM1 and standard dual HER2 blockade harbor strikingly distinctive biomarkers of response. Further validation in prospective biomarker-driven studies, integrated multimodal predictive models and studies with novel antibody-drug conjugates are warranted.
Clinical • Tumor mutational burden • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset)
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HER-2 positive • TP53 mutation • HR positive • HER-2 expression • BRCA2 deletion • BRCA1 deletion • ER expression • PGR expression
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Prosigna™ Breast Cancer Prognostic Gene Signature Assay • HER2DX
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docetaxel • Perjeta (pertuzumab) • Kadcyla (ado-trastuzumab emtansine)
11ms
Cytopathological characteristics of SMARCA4-deficient thoracic undifferentiated tumors in serous effusion (PubMed, Zhonghua Bing Li Xue Za Zhi)
This tumor thus warrants careful consideration. Accurate diagnosis can greatly improve early diagnosis and treatment of these tumors.
Journal • PD(L)-1 Biomarker • BRCA Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD34 (CD34 molecule) • SALL4 (Spalt Like Transcription Factor 4) • SYP (Synaptophysin)
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TP53 mutation • HER-2 amplification • MET amplification • STK11 mutation • PD-L1 negative • CDKN2A mutation • MET mutation • BRCA2 deletion • SMARCA4 mutation • BRCA1 deletion
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PD-L1 IHC 22C3 pharmDx
11ms
Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor resistant advanced breast cancer. (PubMed, Ann Oncol)
These observations map the prevalence of candidate drivers of resistance across time in a clinical setting, information with implications for clinical management and trial design in HRD breast cancers.
Journal • BRCA Biomarker • PARP Biomarker • Metastases
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • RAD51 (RAD51 Homolog A) • RIF1 (Replication Timing Regulatory Factor 1) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
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TP53 mutation • HRD • PALB2 mutation • BRCA2 deletion • BRCA1 deletion • PARP1 mutation • RAD51 mutation
11ms
Enrollment change • Trial withdrawal • Metastases
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
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OncoPanel™ Assay
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Lynparza (olaparib)
1year
A prospective study of comprehensive genomic testing to identify actionable variants in patients (pts) with metastatic castration-resistant prostate cancer (mCRPC). (ASCO-GU 2024)
Of the 42 pts with a treatment recommendation, 23 pts (56%) have received an on-label treatment, 19 with a PARP inhibitor and 4 with pembrolizumab... In this prospective study, 38% of pts with mCRPC were identified to have variants with an on-label treatment recommendation, highlighting the value of comprehensive testing to identify a relatively high number of these pts. In pts with both cfDNA and tissue testing, cfDNA alone detected 68% of these pts, emphasizing the value of cfDNA as a complement or alternative to tissue testing. Repeat cfDNA testing in a cohort of pts detected a new on-label variant in almost half of the pts tested, emphasizing the potential value of serial testing with tumor progression.
Clinical • PD(L)-1 Biomarker • PARP Biomarker • MSi-H Biomarker • BRCA Biomarker • BRCA Companion diagnostic • MSi-H Companion diagnostic • PARP Companion diagnostic • PD(L)-1 companion diagnostic • Metastases
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2)
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MSI-H/dMMR • BRCA2 deletion • BRCA1 deletion
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PredicineCARE™
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Keytruda (pembrolizumab)
1year
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia. (PubMed, Adv Lab Med)
Furthermore, the founder effect of c.1918C>T (BRCA1) and c.8251_8254del (ATM) was verified in the Murcian population, whereas exon 2 deletion (BRCA2) was proven to be a Spanish founder mutation. Our algorithm enabled us to prioritize potentially pathogenic VUS that required further testing to determine their clinical significance and potential role in HBOC.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
1year
Landscape of ESR1 mutations in advanced breast cancer using circulating tumor DNA (ctDNA) next-generation sequencing (NGS) in Asia and Middle East (AME) (ESMO Asia 2023)
Two pts each had homozygous deletions in ATM, BRCA2 and CHEK2; another had FGFR2 fusion (FGFR2-KIAA1598). Conclusions Comprehensive ctDNA NGS can identify ESR1 mutations along with co-alterations that may inform therapeutic decisions for patients with ABC in AME.
BRCA Biomarker • Next-generation sequencing • Circulating tumor DNA • Metastases
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EGFR (Epidermal growth factor receptor) • 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) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • CCND1 (Cyclin D1) • CHEK2 (Checkpoint kinase 2) • GATA3 (GATA binding protein 3) • SHTN1 (Shootin 1)
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TP53 mutation • ER positive • HER-2 amplification • PIK3CA mutation • MET amplification • FGFR2 mutation • FGFR2 fusion • ER mutation • ATM deletion • ER D538G • BRCA2 deletion • ESR1 mutation • BRCA1 deletion
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Guardant360® CDx
1year
Determinants of Widespread Metastases and of Metastatic Tropism in Patients with Prostate Cancer: A Genomic Analysis of Primary and Metastatic Tumors. (PubMed, Int J Radiat Oncol Biol Phys)
We identified genomic alterations (TP53 mutations, FOXA1 and AR amplification, RB1 and BRCA2 deletions) from primary prostate tumors that are predictive of wide-spread metastases and poor outcomes.
Journal • BRCA Biomarker • Metastases
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • FOXA1 (Forkhead Box A1)
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TP53 mutation • RB1 deletion • BRCA2 deletion • BRCA1 deletion • AR amplification • FOXA1 mutation • RB deletion
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MSK-IMPACT
1year
Determinants of Widespread Metastases and of Metastatic Tropism in Patients with Prostate Cancer: A Genomic Analysis of Primary and Metastatic Tumors (ASTRO 2023)
We identified genomic alterations (TP53 mutations, FOXA1 and AR amplification, RB1 and BRCA2 deletions) from primary prostate tumors that are predictive of wide-spread metastases and poor outcomes.
Clinical • Genomic analysis • BRCA Biomarker • Metastases • Omic analysis
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • FOXA1 (Forkhead Box A1)
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TP53 mutation • RB1 deletion • BRCA2 deletion • BRCA1 deletion • AR amplification • FOXA1 mutation • RB deletion
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MSK-IMPACT
over1year
A transcriptional response to replication stress selectively expands a subset of Brca2-mutant mammary epithelial cells. (PubMed, Nat Commun)
Notably, CRISPR/Cas9-mediated deletion of Tspan8 or Thrsp prevents Brca2 HR- luminal cell expansion. Our findings indicate that Brca2 cells activate a transcriptional response after replication stress that preferentially favours outgrowth of HR- luminal cells through the expression of interferon-responsive and mammary alveolar genes.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset)
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BRCA2 mutation • BRCA2 deletion • BRCA1 deletion
over1year
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer. (PubMed, J Ovarian Res)
From 71 patients with HGCS, we performed targeted germline and tumor sequencing and provided a comprehensive analysis of these 557 genes. We identified germline and somatic genetic alterations including somatic copy number alterations and analyzed their associations with relapse-free and overall survival. This single-site long-term follow-up study provides additional information on genetic alterations related to occurrence and outcome of HGSC. Our findings suggest that targeted treatments based on both variant and SCNA profile potentially could improve relapse-free and overall survival.
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) • STK11 (Serine/threonine kinase 11) • HRD (Homologous Recombination Deficiency) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • CREBBP (CREB binding protein) • NOTCH3 (Notch Receptor 3) • MRE11A (MRE11 homolog, double strand break repair nuclease) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4) • PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2 ) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit) • ZKSCAN1 (Zinc Finger With KRAB And SCAN Domains 1)
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RB1 deletion • BRCA2 deletion • BRCA1 deletion
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)
over1year
Prevalence of BRCA1 and BRAC2 Mutations among Breast and Ovarian Cancer Patients in Northern Emirates, UAE. (EACR 2023)
The present data provide an evident contribution of BRCA1 and BRCA2 mutation in patients of breast and ovarian cancer. One limitation of this study is the low number of patients who underwent TNBC testing.
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 • BRCA2 deletion • BRCA1 deletion • BRCA1 mutation + BRCA2 mutation • BRCA mutation
over1year
Multi-omics analysis reveals distinct non-reversion mechanisms of PARPi resistance in BRCA1- versus BRCA2-deficient mammary tumors. (PubMed, Cell Rep)
Moreover, we find that 53BP1 loss is the prevalent resistance mechanism in HR-proficient BRCA1-deficient tumors, whereas resistance in BRCA2-deficient tumors is mainly induced by PARG loss. Furthermore, combined multi-omics analysis identifies additional genes and pathways potentially involved in modulating PARPi response.
Journal
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
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BRCA2 deletion • BRCA1 deletion
over1year
Small-scale variants and large deletions in BRCA1/2 genes in Slovak high-grade serous ovarian cancer. (PubMed, Pathol Res Pract)
A mutation in the BRCA1/2 genes was confirmed in 50% of the examined patients. In the study, we focused on the identification of mutated BRCA genes by a commercially available Sophia DDM™ system to identify a pathogenic or probable pathogenic variant in a cohort of patients with HGSOC in the Slovak population, which could result in better management and stratification of the individual.
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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BRCA2 mutation • BRCA1 mutation • HRD • BRCA2 deletion • BRCA1 deletion • HRD + BRCA1 mutation • BRCA mutation
over1year
Impact of concurrent tumour events on the prostate cancer outcomes of germline BRCA2 mutation carriers. (PubMed, Eur J Cancer)
gBRCA2-related prostate tumours are enriched for aggressive genomic features, such as BRCA2-RB1 co-deletion and MYC amplification. The presence or absence of these events modify the outcomes of gBRCA2 carriers.
Journal • BRCA Biomarker
|
BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1)
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BRCA2 mutation • MYC amplification • RB1 deletion • BRCA2 deletion • BRCA1 deletion • RB deletion
over1year
Targeting homologous recombination deficiency in uterine leiomyosarcoma. (PubMed, J Exp Clin Cancer Res)
Our work demonstrates the value of identifying HRD for therapeutic targeting by PARPi and platinum in individuals with the aggressive rare malignancy, uLMS and suggests that individuals with HRD uLMS should be included in trials of PARP1-specific PARPi.
Journal • BRCA Biomarker • PARP Biomarker
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BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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HRD • BRCA2 deletion • BRCA1 deletion
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Lynparza (olaparib) • cisplatin • saruparib (AZD5305)
over1year
Determinants of widespread metastases and of metastatic tropism in patients with prostate cancer: A genomic analysis of primary and metastatic tumors. (ASCO 2023)
We identified genomic alterations (TP53 mutations, FOXA1 and AR amplification, RB1 and BRCA2 deletions) from primary prostate tumors that are predictive of wide-spread metastases and poor outcomes.
Clinical • BRCA Biomarker • Metastases • Omic analysis
|
TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • FOXA1 (Forkhead Box A1)
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TP53 mutation • RB1 deletion • BRCA2 deletion • BRCA1 deletion • AR amplification • FOXA1 mutation • RB deletion
|
MSK-IMPACT
over1year
Olaparib in Unresectable/Metastatic Melanoma With BRCA1/2 (clinicaltrials.gov)
P2; Not yet recruiting --> Recruiting | Initiation date: Feb 2023 --> Oct 2022
Enrollment open • Trial initiation date • Metastases
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
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BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
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OncoPanel™ Assay
|
Lynparza (olaparib)
over1year
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. (PubMed, Mol Oncol)
In this study, we demonstrated the prevalence of pathogenic germline LGRs beyond breast and ovarian cancer. The profiles of these pathogenic or likely-pathogenic alterations will fuel further investigations and highlight new understanding of LGRs across multiple cancer types.
Journal • Tumor mutational burden • BRCA Biomarker • Pan tumor
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TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • FANCA (FA Complementation Group A) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • KDM5A (Lysine Demethylase 5A) • HNF1A (HNF1 Homeobox A)
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TMB-H • BRCA2 deletion • BRCA1 deletion
over1year
Determinants of widespread metastases and of metastatic tropism in patients with prostate cancer: A genomic analysis of primary and metastatic tumors. (PubMed, Urol Oncol)
We identified genomic alterations (TP53 mutations, FOXA1/AR amplification, RB1/BRCA2 deletion) from primary prostate carcinomas that are predictive of wide-spread metastases and poor outcome.
Journal • BRCA Biomarker • Metastases
|
TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • FOXA1 (Forkhead Box A1)
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TP53 mutation • RB1 deletion • BRCA2 deletion • BRCA1 deletion • AR amplification • BRCA2 amplification • FOXA1 mutation • RB deletion
|
MSK-IMPACT
over1year
Evaluation of copy number and allelic imbalance of BRCA2 by next-generation sequencing to predict prognosis and drug sensitivity in prostate cancer (AUA 2023)
Of the 8 patients, 4 patients with BRCA2 CN less than 0.8 had an OR to the PARP inhibitor olaparib, while the other 4 patients with BRCA2 CN greater than 0.8 did not have an OR to olaparib... Our findings show that estimating CN decrease in BRCA2 using NGS can predict the prognosis of localized PC. Furthermore, our results may provide new insight into the utility of assessing both CN and AI of BRCA2 to accurately predict response to PARP inhibitors in mCRPC patients with BRCA2 alterations.
Next-generation sequencing • 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 • BRCA2 deletion • BRCA1 deletion • BRCA1 mutation + BRCA2 mutation
|
Lynparza (olaparib)
almost2years
Determination of BRCA2 deletion status by copy number estimation using next generation sequencing to predict prognosis of clinically localized prostate cancer (AACR 2023)
Our results suggest that a decrease in BRCA2 CN may be used as a biomarker for predicting recurrence after surgery in localized PC. Early screening for somatic alterations in BRCA2 using NGS may help to broadly predict the risk of PC progression.
Clinical • Next-generation sequencing • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 deletion • BRCA1 deletion
almost2years
Longitudinal analysis of PARP inhibitor and platinum resistance in BRCA1/2m breast cancer using liquid biopsy (AACR 2023)
Liquid biopsy profiling of PARPi-resistance breast cancer patients indicates that many patients develop multiple reversion mutations, and that alterations in the 53BP1-Shieldin pathway are present but less frequent. The co-occurrence of 53BP1-Shieldin pathway mutations and reversion mutations suggests parallel mechanisms of resistance can operate in the same patient.
Liquid biopsy • BRCA Biomarker • PARP Biomarker • Biopsy
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
|
BRCA2 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion • BRCA1 rearrangement
almost2years
Integrated analysis of gene expression signatures and AI-based detection of tertiary lymphoid structures and stromal tumor-infiltrating lymphocytes in breast cancer H&E samples (AACR 2023)
RNA-based methods used were concordant with AI-based methods of TLS and sTIL detection. Our CNN-based method of identifying immune structures in the TME with morphological features on H&E WSIs may automate traditional pathology workflows with additional validation.
Tumor-infiltrating lymphocyte • BRCA Biomarker • IO biomarker • Stroma
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BRCA2 (Breast cancer 2, early onset) • NRG1 (Neuregulin 1) • CD8 (cluster of differentiation 8) • IFNG (Interferon, gamma) • NOTCH2 (Notch 2) • CXCL9 (Chemokine (C-X-C motif) ligand 9) • CD4 (CD4 Molecule) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • CCL19 (C-C Motif Chemokine Ligand 19) • CD79A (CD79a Molecule) • TGFB1 (Transforming Growth Factor Beta 1) • IGLL5 (Immunoglobulin Lambda Like Polypeptide 5)
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BRCA2 mutation • BRCA2 deletion • BRCA1 deletion
almost2years
Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response. (PubMed, Cells)
The choice of chemotherapeutic treatment regimens involving gemcitabine and FOLFIRINOX is currently solely based on the patient's performance status, but, ideally, it should be based on the tumors' individual biology...In summary, both patient-derived cell lines show distinct molecular phenotypes reflecting their individual tumor biology, with a unique clinical annotation of the respective patients. These preclinical ex vivo models can be further explored for potential new treatment strategies and might help in developing personalized (targeted) therapy regimens.
Preclinical • Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDH1 (Cadherin 1) • CREBBP (CREB binding protein) • VIM (Vimentin) • TGFB1 (Transforming Growth Factor Beta 1) • SMAD2 (SMAD Family Member 2)
|
TP53 mutation • CDKN2A mutation • BRCA2 deletion • BRCA1 deletion • CDH1 expression • VIM expression
|
gemcitabine • 5-fluorouracil • irinotecan • leucovorin calcium
almost2years
Estimating copy number to determine BRCA2 deletion status and to expect prognosis in localized prostate cancer. (PubMed, Cancer Med)
Our results suggest that a decrease in BRCA2 CN may be used as a biomarker for predicting recurrence after surgery in localized PC. Early screening for somatic alterations in BRCA2 using NGS may help to broadly predict the risk of PC progression.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 deletion • BRCA1 deletion
over2years
Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients. (PubMed, Front Oncol)
This is the first study to reveal the BRCA1/2 LGR profile of a Chinese pan-cancer cohort by using an NGS-based assay. Two breast and ovarian cancer patients harboring NGS-determined BRCA1/2 LGR benefited from PARPi, indicating that NGS-based detection of BRCA1/2 LGR has the potential to guide PARPi treatment.
Journal • Next-generation sequencing • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA2 mutation • BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
over2years
Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer. (PubMed, Cancer Med)
There were no women with TP53 or PALB2 germline alterations. Genetic analysis of non-selected HGSOC patients is an efficient tool for the identification of ethnicity-specific BRCA1/2 pathogenic variants.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
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ATM mutation • BRCA2 deletion • BRCA1 deletion
over2years
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania. (PubMed, Cancer Med)
Our study provides first insight into BC genetic landscape by the use of NGS in the under-represented East African Tanzanian populations. Our findings support the importance of genetic risk factors in BC etiology in Tanzania and showed a relatively high overall prevalence (6%) of germline BRCA1/2 pathogenic variants in BC patients. Therefore, our results indicate that BRCA1/2 pathogenic variants may well contribute to BC incidence in Tanzania. Thus, the identification of frequent variants in BRCA1/2 genes will enable implementation of rapid, inexpensive population-specific BRCA1/2 genetic testing, particularly for triple-negative BC patients known for their high prevalence in Tanzania. This will, in turn, greatly contributes to provide effective therapeutic strategies.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA2 deletion • BRCA1 deletion
over2years
Olaparib in Unresectable/Metastatic Melanoma With BRCA1/2 (clinicaltrials.gov)
P2, N=15, Not yet recruiting, Dana-Farber Cancer Institute
New P2 trial • Metastases
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA1 mutation • BRCA2 deletion • BRCA1 deletion
|
OncoPanel™ Assay
|
Lynparza (olaparib)
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
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 deletion • BRCA1 deletion • BRCA mutation • BRCA deletion
over2years
Retrospective Analysis of BRCA1/2 Alterations in Advanced NSCLC Using An Amplicon-based NGS Liquid Biopsy Assay (IASLC-WCLC 2022)
Ultrasensitive liquid biopsy enables detection of pathogenic BRCA1/2 alterations in plasma cfDNA of lung adenocarcinomas, despite low VAFs. Retrospective analysis suggests a difference in cfDNA mutational profiles in BRCA1/2 mutants, warranting further investigation on the role of BRCA1/2, HRD, and correlation with ICI treatment response in lung adenocarcinoma.
Retrospective data • BRCA Biomarker • IO biomarker • Liquid biopsy • Next-generation sequencing
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
|
KRAS mutation • BRCA2 mutation • BRCA1 mutation • EGFR mutation • BRAF mutation • HRD • BRCA wild-type • MET mutation • BRCA2 deletion • BRCA1 deletion • HRD + BRCA1 mutation • BRCA mutation • BRCA1 positive • BRCA2 positive
|
LiquidHALLMARK®
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
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey. (PubMed, Cancer Genet)
Our study presents the cost effectiveness of the gene panel approach. We suggest that gene panels should be the first-tier genetic testing for hereditary breast cancer and MLPA analysis of BRCA1/2 genes should be investigated as a complementary method of NGS analysis.
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 • BRCA2 deletion • BRCA1 deletion
over2years
Characterization of Aberrations in DNA Damage Repair Pathways in Gastrointestinal Stromal Tumors: The Clinicopathologic Relevance of γH2AX and 53BP1 in Correlation with Heterozygous Deletions of CHEK2, BRCA2, and RB1. (PubMed, Cancers (Basel))
However, higher risk levels, epithelioid histology, and KITex11-del retained prognostic independence. Conclusively, IHC is a useful surrogate of laborious IF in the combined assessment of 53BP1 and γ-H2AX to identify potential DDR-defective GISTs, which were frequently aberrated by HetDels and a harbinger of progression.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1) • CHEK2 (Checkpoint kinase 2) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
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KIT exon 11 mutation • RB1 deletion • BRCA2 deletion • BRCA1 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
Analytical validation of the Resolution HRD plasma assay used to identify mCRPC patients with mutations, including homozygous deletions, in DNA repair genes as a companion diagnostic for niraparib (AACR 2022)
The Resolution HRD assay offers highly sensitive, specific, and robust test results, and meets analytical requirements for clinical applications. It is intended as a companion diagnostic to niraparib in combination with abiraterone acetate plus prednisone (AAP) for the treatment of mCRPC patients.
Clinical • Companion diagnostic • BRCA Biomarker • PARP Biomarker • BRCA Companion diagnostic • PARP Companion diagnostic
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • HDAC2 (Histone deacetylase 2)
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HRD • ATM deletion • BRCA2 deletion • BRCA1 deletion
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Zejula (niraparib) • abiraterone acetate