Clinical trials: Germline Mutation Abnormality
Lobular Breast Carcinoma, Lobular in Situ Breast Carcinoma
LobularCard Trial: Searching for Novel Germline Mutations in Lobular Breast Cancer Patients
This is a cross-sectional and retrospective study of a cohort of patients with invasive lobular breast cancer (LBC) or in situ lobular neoplasia (LIN3).
- Conditions
- Lobular Breast Carcinoma, Lobular in Situ Breast Carcinoma, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- LobularCard (NCT05410951)
- Testing
- Illumina panel
- Where
- Italy
- Volunteers
- 800 people
- Sponsor
- European Institute of Oncology
Metastatic Triple Negative Breast Cancer
To Assess Safety and Efficacy of Agents Targeting DNA Damage Repair With Olaparib Versus Olaparib Monotherapy.
This study is to assess the efficacy and safety of olaparib monotherapy versus olaparib in combination with an inhibitor of ATR (Ataxia-Telangiectasia Mutated (ATM) and Rad3-related protein kinase (Ceralasertib [AZD6738]) and…
- Trial name
- NCT03330847
- Testing
- Olaparib Continuous (28-Day cycle) 300 mg BD., Ceralasertib 160 mg OD + olaparib continuous 300 mg BD (28-day cycle)., Adavosertib 150 mg BD + olaparib 200 mg BD (21-day cycle).
- Where
- 141 sites in United States, Belgium and 13 more
- Volunteers
- 273 people
- Sponsor
- AstraZeneca
Ovarian Cancer
Circulating Tumor DNA and BRCA Reversion Mutation in Advanced or Recurrent Ovarian Cancer Patients With Germline Mutation.
Increasing number of ovarian cancer patients are receiving PARP inhibitor as maintenance or salvage therapy. Predictive factors to PARP inhibitor other than BRCA mutation or HRD status as well as specific resistance mechanism are…
- Trial name
- NCT05458973
- Where
- South Korea
- Volunteers
- 100 people
- Sponsor
- Yonsei University
Cardiovascular Disease, Arterial Stiffness
Natural History Study of CADASIL
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia.
- Conditions
- Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL
- Trial name
- NCT05072483
- Testing
- MRI
- Where
- United States
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Gastrointestinal Stromal Tumors, Germline Mutation
A Retrospective Pharmacokinetics and Pharmacogenomics Research of Imatinib in Gastrointestinal Stromal Tumor Treatment
For patients of GIST (Gastrointestinal Stromal Tumor), Imatinib has been widely used in GIST with KIT or PDGFRA sensitive mutations.
- Conditions
- Gastrointestinal Stromal Tumors, Germline Mutation, Somatic Mutation, Plasma Concentration
- Trial name
- NCT03092128
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Xueding Wang
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Triple-negative Breast Cancer
PARPi or Capecitabine Combined With PD-1 Inhibitors as Adjuvant Therapy in High-risk TNBC
In TNBC patients who have completed neoadjuvant immunotherapy and local treatment, a 9-cycle regimen of PD-1 inhibitor adjuvant immunotherapy is currently considered the standard approach.
- Trial name
- NCT06533384
- Testing
- As per the germline BRCA1/2 mutation status, the selection of either Fuzuloparib or capecitabine in combination with Camrelizumab is made for adjuvant therapy., 9 cycles of Camrelizumab as adjuvant therapy.
- Where
- China
- Volunteers
- 310 people
- Sponsor
- Guangdong Provincial People's Hospital
Breast Cancer, Triple Negative Breast Cancer
Olaparib in Locally Advanced ER, PgR and HER2 Negative (Triple Negative) and in Locally Advanced Germline BRCA Mutation-positive Breast Cancer Patients
Treatment selection for breast cancer is still largely empiric and guided by large randomized clinical trials on populations of patients. This approach is inadequate for the selection of individualized chemotherapy regimens.
- Trial name
- NCT02681562
- Testing
- olaparib
- Volunteers
- 45 people
- Sponsor
- Istituti Ospitalieri di Cremona
To Investigate the Prevalence of BRCA 1/2 Mutation Among Ovarian Cancer
BRCA 1/2 Mutation in Korean Patients With Epithelial Ovarian Cancer
PURPOSE: To investigate the prevalence and clinical correlation of the germline BRCA 1/2 mutation in Korean patients with high grade(HG) serous and/or endometrioid epithelial ovarian cancer (EOC).
- Trial name
- NCT02963688
- Testing
- Ion AmpliSeq BRCA 1/2 Panel (Life Technologies, Carlsbad, CA, USA) ,Ion PGM platform
- Volunteers
- 298 people
- Sponsor
- Samsung Medical Center
Hereditary Colorectal Cancer
Systemic Screening for Hereditary Colorectal Cancer in China
The purpose of the this study is to determine the prevalence of germline cancer susceptibility gene mutation among Chinese population, and to find best ways to screen patients with colorectal cancer in China.
- Trial name
- NCT03365986
- Testing
- genetic screening
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Sun Yat-sen University
Prostate Cancer
Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations
GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa).
- Trial name
- GENPROS (NCT02705846)
- Testing
- Observation of treatment outcomes via Questionnaire
- Where
- United Kingdom
- Volunteers
- 4,260 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Hereditary Breast Cancer
Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
The overall purpose of the study is to evaluate a method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer, regardless of age at diagnosis and family history.
- Trial name
- BRCAsearch (NCT02557776)
- Testing
- Germline genetic testing of BRCA1 and BRCA2
- Where
- 2 sites in Sweden
- Volunteers
- 542 people
- Sponsor
- Lund University
Breast Neoplasms, BRCA 1 Gene Mutation
A Phase 2, 2-Stage, 2-Cohort Study of Talazoparib (BMN 673), in Locally Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (ABRAZO Study)
The purpose of this 2-stage, 2-cohort Phase 2 trial is to evaluate the safety and efficacy of talazoparib (also known as BMN 673) in subjects with locally advanced or metastatic breast cancer with a deleterious germline BRCA 1 or…
- Conditions
- Breast Neoplasms, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- ABRAZO (NCT02034916)
- Testing
- talazoparib
- Where
- 71 sites in United States, France and 3 more
- Volunteers
- 84 people
- Sponsor
- Pfizer
Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation
A Retrospective Study of EGFR-TKIs,Gefitinib, Erlotinib and Osimertinib in NSCLC Patients Treatment
For patients of advanced NSCLC (non small cell lung cancer) , Individualized cancer therapy has been widely accepted since the success of crizotinib administration based on EML4-ALK fusion gene detection and gefitinib and…
- Conditions
- Non-small Cell Lung Cancer (NSCLC), EGFR-TKI Resistant Mutation, EGFR-TKI Sensitizing Mutation, Germline Mutations
- Trial name
- NCT01994057
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Sun Yat-sen University
DDX41 Gene Mutation
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic…
- Trial name
- LUCID (NCT06022016)
- Testing
- For each person (index case or related) included in this study:
- Where
- 5 sites in France
- Volunteers
- 910 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Hereditary Breast and Ovarian Cancer, Mutation
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes.
- Trial name
- TUMOSPEC (NCT03246841)
- Testing
- Genetic testing
- Where
- 2 sites in France
- Volunteers
- 7,274 people, healthy volunteers welcome
- Sponsor
- UNICANCER
Pleuropulmonary Blastoma, Cystic Nephroma
DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
Background: Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age.
- Conditions
- Pleuropulmonary Blastoma, Cystic Nephroma, Ovarian Sertoli-Leydig Cell Tumors, Ocular Medulloepithelioma
- Trial name
- NCT01247597
- Where
- 2 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Advanced Cancer, Metastatic Cancer
A Study of ART4215 for the Treatment of Advanced or Metastatic Solid Tumors
This clinical trial is evaluating a drug called ART4215 in participants with advanced or metastatic solid tumors. The main goals of this study are to: Find the recommended dose of ART4215 that can be given safely to participants…
- Conditions
- Advanced Cancer, Metastatic Cancer, Breast Cancer
- Trial name
- NCT04991480
- Testing
- ART4215, Talazoparib, Niraparib
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 93 people
- Sponsor
- Artios Pharma Ltd
Ovarian Cancer
BMN 673 (Talazoparib), an Oral PARP Inhibitor, in People With Deleterious BRCA1/2 Mutation-Associated Ovarian Cancer Who Have Had Prior PARP Inhibitor Treatment
Background: The new drug BMN 673 (talazoparib) has been shown to fight tumor cells in animals and some people. It is a poly (ADP-ribose) polymerase (PARP) inhibitor.
- Trial name
- NCT02326844
- Testing
- BMN 673 (talazoparib)
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Cancer Institute (NCI)
Recurrent Platinum Resistant Ovarian Cancer
Efficacy and Safety Study of Cediranib in Combination With Olaparib in Patients With Recurrent Platinum-Resistant Ovarian Cancer
This is an open label, single arm, multi-center study to assess the efficacy and safety of the combination of cediranib and olaparib tablets in platinum-resistant relapsed high grade serous, high grade endometroid or clear cell…
- Trial name
- CONCERTO (NCT02889900)
- Testing
- cediranib and olaparib
- Where
- 25 sites in United States
- Volunteers
- 62 people
- Sponsor
- AstraZeneca