^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners
BIOMARKER:

BRCA1 negative

i
Entrez ID:
3ms
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing - A modeling study based on real-world data. (PubMed, Eur J Med Genet)
Where existing NGS data for cancer susceptibility genes is stored to diagnostic standard in UK laboratories, this study suggests it is cost-effective to analyse, report and clinically manage patients and relatives by extended analysis to an 8-gene panel compared to the historical genetic testing.
Journal • HEOR • Real-world evidence • BRCA Biomarker • Real-world
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C)
|
BRCA1 negative
9ms
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
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA1 negative • BRCA1 promoter methylation
10ms
Immunohistochemical and molecular pattern of p53 in epithelial ovarian cancers negative for germline BRCA1/2 variants. (PubMed, Pathol Res Pract)
Also in this series, STIC is associated with an abnormal p53 pattern in fallopian tubes of high-grade EOCs. In summary, TP53 aberrations are the most frequent and early molecular events in EOC carcinogenesis independently from BRCA mutation status.
Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
TP53 mutation • BRCA2 mutation • TP53 expression • BRCA mutation • BRCA1 negative
10ms
BTCRC-BRE18-337: Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast Cancers (clinicaltrials.gov)
P1/2, N=37, Active, not recruiting, Kari Wisinski | Trial completion date: Dec 2023 --> Mar 2024 | Trial primary completion date: Dec 2023 --> Mar 2024
Trial completion date • Trial primary completion date • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 negative • BRCA1 negative
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
1year
BRCA1 expression, its correlation with clinicopathological features, and response to neoadjuvant chemotherapy in high-grade serous ovarian cancer. (PubMed, J Obstet Gynaecol Res)
Our findings show the utility of the BRCA1/ID4 ratio in predicting neoadjuvant therapy response, which needs further evaluation in larger cohorts with long-term outcomes.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset)
|
BRCA1 mutation • BRCA mutation • BRCA1 expression • BRCA1 negative
1year
A Case of Bilateral Breast Cancer in a patient on Ocrelizumab (SABCS 2023)
Women with MS have lower all-cause survival after breast cancer diagnosis than women without MS. Hence it is important to identify any risk factors or therapies that might be associated with increased risk of cancer.
Clinical • BRCA Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • MSH3 (MutS Homolog 3)
|
BRCA1 negative
|
Oncotype DX Breast Recurrence Score®Test
|
Ocrevus (ocrelizumab)
1year
Clinical Impact of Multigene Panel Testing in Patients with a Personal or Family History of Breast or Ovarian Cancer Previously Negative for BRCA1/2 Genes (SABCS 2023)
The completion of multigene panel testing did not lead to a significant increase in MICRA or CWS scores. Key limitations of this study include a small sample size and an all Caucasian population.
Clinical • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CHEK2 (Checkpoint kinase 2)
|
BRCA2 mutation • CHEK2 mutation • BRCA1 negative
1year
Phase 2 Trial with Safety Run-In of Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast CancersBig Ten Cancer Research Consortium BTCRC-BRE18-337 (SABCS 2023)
Although this study did not meet its primary endpoint, there were 2 TNBC patients without a gBRCA1/2 mutation who achieved a partial response to this non-chemotherapy regimen. Future biomarker testing may help elucidate these findings and possible predictors of response.
Clinical • P2 data • BRCA Biomarker • PARP Biomarker • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 mutation • BRCA1 mutation • HER-2 negative • PIK3CA mutation • BRCA mutation • BRCA1 positive • BRCA1 negative • BRCA2 positive
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
1year
Malignant mesothelioma cells with characteristic intracytoplasmic vacuolization and lipids. (PubMed, Diagn Cytopathol)
In immunocytochemical analysis, tumor cells were positive for calretinin, podoplanin, epithelial membrane antigen, and methylthioadenosine phosphorylase; tumor cells were negative for BRCA1-associated protein 1, CD68, and desmin. The intracytoplasmic vacuoles were positive for adipophilin expression.
Journal • BRCA Biomarker
|
MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1) • CD68 (CD68 Molecule) • PLIN2 (Perilipin)
|
BRCA1 negative • PLIN2 expression
1year
Use of newly approved drugs for patients with early breast cancer (stage I-III) in Germany – data of the prospective, intersectoral research platform OPAL (DGHO 2023)
Our data show that abemaciclib and pembrolizumab were quickly implemented into routine care. Olaparib is used for pts with BRCA1/2 mutated tumors, but only few BRCA1/2 tests were documented so far. Future analysis will show whether BRCA1/2 testing increases, now that olaparib has been approved.
Clinical • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 negative • HR positive + HER-2 negative • BRCA1 negative
|
Keytruda (pembrolizumab) • Lynparza (olaparib) • Verzenio (abemaciclib)
over1year
Metastatic Breast Cancer Presenting as Obstructive Jaundice (ACG 2023)
Figure: Figure 1a/1b Liver core biopsy H&E 20X objective, blue arrows revealing clusters of pleomorphic tumor cells. 1c: Liver Core biopsy with CK7 immunohistochemical stain 10X objective, a blue arrow indicating presence of tumor cells 1d: cross-sectional imaging of MRI abdomen/pelvis with and without contrast demonstrating normal signal and morphology, no suspicious lesions are seen.
Metastases
|
BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset)
|
BRCA1 negative
over1year
Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast Cancers (clinicaltrials.gov)
P1/2, N=37, Active, not recruiting, Kari Wisinski | Recruiting --> Active, not recruiting
Enrollment closed • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 negative • BRCA1 negative
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
over1year
Targeted Therapies and the Evolving Standard of Care for Triple-Negative and Germline BRCA1/2-Mutated Breast Cancers in the High-Risk, Early-Stage Setting. (PubMed, JCO Precis Oncol)
Clinical trial results demonstrate the pronounced clinical benefits of pembrolizumab combined with chemotherapy for high-risk, early-stage TNBC and adjuvant olaparib for high-risk, early-stage HER2-negative BRCA1/2-mutated breast cancer.
Review • Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA mutation • BRCA1 negative
|
Keytruda (pembrolizumab) • Lynparza (olaparib)
over1year
BRCA1-methylated triple negative breast cancers previously exposed to neoadjuvant chemotherapy form RAD51 foci and respond poorly to olaparib. (PubMed, Front Oncol)
We interrogated the sensitivity to olaparib vs. carboplatin of 8 TNBC Patient-Derived Xenografts (PDX) models. These results were consistent with observations in cell lines showing a significant increase of RAD51-foci in olaparib-resistant subclones compared with sensitive parental cells, suggesting HR restoration in these models. Our results thus support the notion that the actual HRD status of BRCA1-Me TNBC, especially if previously exposed to chemotherapy, may be questioned and should be verified using the BRCA1- and RAD51-foci assay.
Journal • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A)
|
BRCA1 mutation • HRD • BRCA wild-type • BRCA1 negative
|
Lynparza (olaparib) • carboplatin
almost2years
The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases. (PubMed, Ann Hum Genet)
The examination of signaling genes in patients who met the established criteria for hereditary breast cancer but were negative for BRCA1/2 pathogenic variants provided additional information for approximately 8% of the families. The results of the present study suggest that NGS is a powerful tool for investigating the underlying genetic causes of occurrence and progression of breast cancer.
Journal • Next-generation sequencing • BRCA Biomarker
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RET (Ret Proto-Oncogene) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • NOTCH1 (Notch 1) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2)
|
BRCA1 negative
almost2years
The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women. (PubMed, Cancers (Basel))
In younger BRCA1/BRCA2/PALB2-negative women, the aggregated burden of PGVs in breast cancer risk genes was associated with the increased risk of CBC and was inversely proportional to the age at onset.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
|
BRCA1 negative
almost2years
Predictors of Women's Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members. (PubMed, Public Health Genomics)
Attitudes and subjective norms were predictors of intention to communicate updated genetic information to at-risk biological relatives, and predictors may vary by degree of relationship.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA1 negative
2years
Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast Cancers (clinicaltrials.gov)
P1/2, N=37, Recruiting, Kari Wisinski | N=54 --> 37 | Trial completion date: Dec 2023 --> Jun 2023 | Trial primary completion date: Dec 2022 --> Jun 2023
Enrollment change • Trial completion date • Trial primary completion date • Metastases
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 negative • BRCA1 negative
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
2years
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population. (PubMed, Gene)
The genes identified by exomiser (phenotype score >0.75) are associated with various biological processes such as DNA integrity maintenance, transcription regulation, cell cycle regulation, and apoptosis. Our findings provide novel and prevalent gene variants associated with the HBOC condition in the West Indian population which could be further studied for early diagnosis and better prognosis of HBOC.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA1 negative
2years
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 100 high risk families with breast cancer: A single center study (EBCC 2022)
Under the employed selection criteria, detection rate of mutation was low (1.74%). Most of family member of breast cancer with unknown BRCA ness was negative under criteria. If BRCA mutation screening for BrCa/OvCa families could be necessary, further larger scaled studies for useful criteria should be investigated.
Clinical • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA2 mutation • BRCA1 mutation • BRCA mutation • BRCA1 negative
2years
ER+ HER2-negative mBRCA1/2 carriers breast cancer patients (n=81): Clinical outcomes and molecular characterization via the 21-gene Breast Recurrence Score (RS) test vs the general RS-tested population (799,986 samples) (SABCS 2022)
Both mBRCA1 and mBRCA2 carriers are characterized by higher RS results that stem from a distinct gene expression profile of most genes in the RS assay. Single Gene Expression and Gene Group Scores vs the Commercial Use DB
Clinical data • Clinical • BRCA Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • MYBL2 (MYB Proto-Oncogene Like 2)
|
BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA1 expression • BRCA1 negative
|
Oncotype DX Breast Recurrence Score®Test
2years
Identification of Shared Neoantigens in BRCA1-Related Breast Cancer. (PubMed, Vaccines (Basel))
For germline BRCA1-mutated breast cancer, TP53 R175H was unanimously the most frequent mutation among the three germline cohorts. Our study provides lists of potential shared neoantigens among BRCA1-related breast cancer, which may be used in developing off-the-shelf neoantigen-based vaccines.
Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset)
|
TP53 mutation • BRCA1 mutation • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • TP53 R175H • PIK3CA E545 • PIK3CA E542 • BRCA1 positive • PIK3CA N345K • BRCA1 negative
2years
Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel. (PubMed, Exp Mol Pathol)
Germline analysis of actionable genes revealed 4 patients carrier of pathogenic germline variants respectively of RAD51C (2 patients), RAD51D, and PALB2. Molecular profiling of EOCs using our custom NGS panel has enabled the detection of both somatic and germline variants, allowing the selection of patients suitable for targeted therapies, and the identification of high-risk OC families that can benefit from genetic counseling and testing.
Journal • BRCA Biomarker • PARP Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • RAD51C (RAD51 paralog C) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • RAD51D (RAD51 paralog D)
|
BRCA2 mutation • BRCA1 mutation • BRCA wild-type • BRCA1 negative
2years
Clinical • BRCA 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)
|
ER positive • BRCA1 negative
|
Oncotype DX Breast Recurrence Score®Test
over2years
Trial termination
|
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) • MUC16 (Mucin 16, Cell Surface Associated)
|
BRCA2 mutation • BRCA1 mutation • BRCA mutation • BRCA1 negative
|
prexasertib (ACR-368)
over2years
large genome rearrangement of BRCA1/2 in BRCA mutation negative ovarian cancer patients (AACR-NCI-EORTC 2022)
The detection of more BRCA1/2 mutations in patients of ovarian cancer is important for efforts to provide targeted therapy. No
Clinical • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
BRCA2 mutation • BRCA1 mutation • BRCA mutation • BRCA2 rearrangement • BRCA1 negative • BRCA1 rearrangement
over2years
Ethical, legal, and sociocultural challenges of genomic research in Jordan: a mixed methods study in patients with breast cancer with Jordanian-Palestinian heritage. (PubMed, Lancet)
Our cohort showed an important incidence of deleterious and suspected deleterious BRCA1 and BRCA2 mutations, suggesting that genetic testing should be discussed and offered to patients with high-risk features. Many high-risk patients tested negative for BRCA1 and BRCA2 mutations, therefore future studies should aim to test for mutations in other breast cancer susceptibility genes (eg, CHEK2, PALB2, and BRIP1). Running culturally sensitive genetic research in a country with limited resources is a challenging exercise and highlights the urgent need for guiding regulations. We recommend establishing a clinical cancer genetics programme, through which unaffected family members would benefit from early breast cancer screening and appropriate risk-reduction measures.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
|
BRCA2 mutation • BRCA1 mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 negative
over2years
TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes. (PubMed, Biomolecules)
In conclusion, four (4.8%) early-onset breast cancer patients fulfilling the HBOC and LFL syndromes presented TP53 pathogenic variants, confirming the relevance of genetic tests in this group of patients. In contrast to other Brazilian regions, TP53 p.R337H variant appeared with low prevalence.
Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
TP53 mutation • BRCA2 mutation • BRCA1 mutation • TP53 deletion • BRCA1 mutation + BRCA2 mutation • BRCA1 negative
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
|
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))
|
ATM mutation • BRCA2 deletion • CHEK2 mutation • BRCA1 deletion • BRCA deletion • BRCA1 negative
over2years
Results of the safety run-in of gedatolisib plus talazoparib in advanced triple negative or BRCA 1/2 positive HER2 negative breast cancer. (ASCO 2022)
The safety run-in indicated that this combination is safe and well tolerated with mostly grade 1-2 AEs. This combination therapy has moved into the phase II trial, with 2 cohorts. Cohort A includes BRCA-wildtype patients with TNBC and cohort 2 includes those with a BRCA mutation and HER2-negative disease.
Clinical • BRCA Biomarker • PARP Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 positive • BRCA2 mutation • BRCA1 mutation • HER-2 negative • BRCA wild-type • BRCA mutation • BRCA1 positive • BRCA1 negative
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
over2years
MALIGNANT PERIPHERAL NERVE SHEATH TUMOR FOLLOWING RADIATION IN A PATIENT WITH SMARCB1 ALTERATION (ASPHO 2022)
SMARCB1 alterations can be associated with schwannomatosis, along with several malignancies, and radiation increases the risk for lifetime malignancy. This case highlights the importance of full genetic work up for pediatric patients, particularly in the setting of radiation treatment.
Clinical • BRCA Biomarker
|
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) • CDH1 (Cadherin 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
|
BRCA1 negative
almost3years
Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast Cancers (clinicaltrials.gov)
P1/2, N=54, Recruiting, Kari Wisinski | Trial completion date: Dec 2022 --> Dec 2023 | Trial primary completion date: Dec 2021 --> Dec 2022
Clinical • Trial completion date • Trial primary completion date
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 negative • BRCA1 negative
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
3years
Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients. (PubMed, Hered Cancer Clin Pract)
TP53 germline mutation screening detects a clinically meaningful risk of early onset BC from this ethnicity and should be considered in all early onset BC regardless of the family history of cancer, especially in young patients that are negative for BRCA mutations.
Clinical • Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
TP53 mutation • BRCA2 mutation • BRCA1 mutation • BRCA1 mutation + BRCA2 mutation • BRCA mutation • BRCA1 negative
3years
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge. (PubMed, ESMO Open)
Providing a multi-gene panel testing to BRCA1/2-wt BC/OC/PC patients with a strong personal and/or family history of cancer could significantly increase the detection rates of germline PVs/LPVs in other cancer predisposition genes beyond BRCA1/2. The use of a multi-gene panel testing could improve the inherited cancer risk estimation and clinical management of patients and unaffected family members.
Clinical • Journal • Next-generation sequencing • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • MUTYH (MutY homolog)
|
PALB2 mutation • BRCA1 negative
3years
Breast Cancer Drug Approvals Issued by EMA: A Review of Clinical Trials. (PubMed, Cancers (Basel))
In particular, we analyzed the clinical trials results leading to approvals and their update (when available), according to setting (localized and locally advanced or metastatic) and clinical features (hormone receptor positive, HER2 positive, triple negative, BRCA 1/2 mutation). The aim of this paper is to describe the clinical benefit obtained with the new indications.
Clinical • European regulatory • Review • Journal • BRCA Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 positive • BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 mutation • BRCA mutation • BRCA1 negative • HR positive + HER-2 positive
3years
Histological patterns and intra-tumor heterogeneity as prognostication tools in high grade serous ovarian cancers. (PubMed, Gynecol Oncol)
A comprehensive histological examination considering architectural patterns and their heterogeneity can help in prognostication of HGSOCs.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
|
HRD • BRCA1 negative
3years
Uptake of genetic counseling and multi-gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing. (PubMed, J Genet Couns)
Supports for this type of effort may include coordinators and genetic counseling assistants and an available database with patients' contact information and prior genetic test results. Updated testing allows women more information about their risk and may expand the value of genetic counseling.
Clinical • Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
|
BRCA1 negative
over3years
Clinical • Trial completion • Trial completion date
|
HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • 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 mutation • BRCA1 negative
|
prexasertib (ACR-368)
over3years
Anticancer activity of RAPTA-EA1 in triple-negative BRCA1 proficient breast cancer cells: single and combined treatment with the PARP inhibitor olaparib. (PubMed, Heliyon)
Treatment reveals a higher degree of cytotoxicity than cisplatin against both cell lines. However, the expression level of the BRCA1 protein is dramatically reduced after treatment with the combined inhibitors, compared with the untreated controls. This observation highlights the cellular responses of triple-negative BRCA1 proficient breast cancer MDA-MB-231 cells to RAPTA-EA1 through BRCA1 inhibition and provides insights into alternative treatments for breast cancer.
Journal • BRCA Biomarker • PARP Biomarker
|
BRCA1 (Breast cancer 1, early onset) • GSTP1 (Glutathione S-transferase pi 1)
|
BRCA1 expression • BRCA1 negative
|
Lynparza (olaparib) • cisplatin
over3years
Gedatolisib Plus Talazoparib in Advanced Triple Negative or BRCA1/2 Positive, HER2 Negative Breast Cancers (clinicaltrials.gov)
P1/2, N=54, Recruiting, Kari Wisinski | Trial completion date: May 2022 --> Dec 2022 | Trial primary completion date: May 2021 --> Dec 2021
Clinical • Trial completion date • Trial primary completion date
|
HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
|
HER-2 negative • BRCA1 negative
|
Talzenna (talazoparib) • gedatolisib (PF-05212384)
over3years
High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer. (PubMed, Breast Cancer)
CIN-high is a prognostic factor correlated with shorter DFS and was independent with the germline BRCA1 mutation pattern. Higher CIN values were significantly correlated with TP53 copy loss in breast cancer patients with germline BRCA1 mutation. Our results revealed a reliable molecular parameter for distinguishing patients with poor prognosis from the BRCA1-mutated breast cancer patients.
Journal • BRCA Biomarker
|
TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset)
|
TP53 mutation • BRCA1 mutation • BRCA1 negative
over3years
Platelet-Activating Factor Acetylhydrolase Expression in BRCA1 Mutant Ovarian Cancer as a Protective Factor and Potential Negative Regulator of the Wnt Signaling Pathway. (PubMed, Biomedicines)
Further studies need to specify this effect. Potential use of PAF-AH as a biomarker for predicting the disease risk of BRCA1 mutation carriers and for the prognosis of patients with BRCA1-negative ovarian cancer should be explored.
Journal • BRCA Biomarker
|
BRCA1 (Breast cancer 1, early onset) • GSK3B (Glycogen Synthase Kinase 3 Beta)
|
BRCA1 mutation • BRCA1 expression • BRCA1 negative