Clinical trials: Germline Mutations
Li-Fraumeni Syndrome
A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome
Background: Li Fraumeni Syndrome (LFS) is a highly penetrant, autosomal dominant cancer predisposition disorder. Four main cancer types including sarcoma, adrenocortical carcinoma, breast cancer, and malignant brain tumors…
- Trial name
- NCT01981525
- Testing
- Metformin
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- National Cancer Institute (NCI)
Treatment in HER2-negative Metastatic Breast Cancer Patients With Germline BRCA Mutation
A Study of Fluzoparib±Apatinib Versus Chemotherapy Treatment of Physician's Choice in HER2-negative Metastatic Breast Cancer Patients With Germline BRCA Mutation
This is a multicenter, randomized, open-label, 3-arm Phase 3 study to evaluate the efficacy and safety of Fluzoparib alone or with Apatinib versus Physicians Choice Chemotherapy, as treatment, in patients with a Germline BRCA…
- Trial name
- NCT04296370
- Testing
- Fluzoparib; Apatinib, Fluzoparib, Physician's choice chemotherapy
- Where
- China
- Volunteers
- 474 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Malignant Neoplasm
Germ-Line Mutations in Blood and Saliva Samples From Patients With Cancer
This research trial studies germ-line mutations in blood and saliva samples from patients with cancer. Studying samples of blood and saliva from patients with cancer in the laboratory may help doctors learn more about how…
- Trial name
- NCT02280161
- Testing
- cytology specimen collection procedure
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Jonsson Comprehensive Cancer Center
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Advanced or Metastatic Solid Tumors With Germline PTEN Inactivating Mutations
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of TAS-117 in patients with advanced or metastatic solid tumors (excluding primary brain tumors)…
- Trial name
- NCT04770246
- Testing
- TAS-117
- Where
- 8 sites in United States, Austria and 2 more
- Volunteers
- 17 people
- Sponsor
- Taiho Oncology, Inc.
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
This phase II trial tests whether treosulfan, fludarabine, and rabbit antithymocyte globulin (rATG) work when given before a blood or bone marrow transplant (conditioning regimen) to cause fewer complications for patients with…
- Conditions
- Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia
- Trial name
- NCT04965597
- Testing
- Treosulfan, Fludarabine Phosphate, Tacrolimus
- Where
- 24 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
HER2-Negative Breast Cancer
Study of Pembrolizumab in Metastatic HER2-negative Breast Cancer Patients With APOBEC3B Mutation
This is an open label investigator initiated Phase II study of single agent pembrolizumab (Keytruda) in metastatic HER2-receptive negative breast cancer patients with germline deletion in the cytosine deaminase (APOBEC3B) gene.
- Trial name
- NCT03989089
- Testing
- Pembrolizumab
- Where
- 2 sites in Malaysia, Singapore
- Volunteers
- 44 people
- Sponsor
- University of Malaya
Breast Cancer, Ovarian Cancer
Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non…
- Conditions
- Breast Cancer, Ovarian Cancer, Colorectal Cancer, Pediatric Cancers
- Trial name
- PANEL (NCT02664389)
- Testing
- Genetic analysis
- Where
- France
- Volunteers
- 289 people
- Sponsor
- University Hospital, Rouen
Head and Neck Cancer
Germline Mutations in Patients With Head and Neck Cancer and a Family History of Cancer
RATIONALE: Studying gene mutations in samples of DNA from patients with head and neck cancer and a family history of cancer may help doctors learn more about the development of cancer in families.
- Trial name
- NCT00482872
- Testing
- gene expression analysis, mutation analysis, polymerase chain reaction
- Where
- 3 sites in United States
- Volunteers
- 400 people
- Sponsor
- Vanderbilt University Medical Center
Ovarian Cancer, Fallopian Tube Cancer
A Study of Oral Rucaparib in Patients With a Solid Tumor (Phase I) or With gBRCA Mutation Ovarian Cancer (Phase II)
Part 1 (Completed Enrollment) - The purpose of the first part of the study was to evaluate the safety of different doses and dosing regimens of oral rucaparib administered daily to patients with solid tumors.
- Conditions
- Ovarian Cancer, Fallopian Tube Cancer, Peritoneal Cancer, Advanced Solid Tumor With Evidence of Germline or Somatic BRCA
- Trial name
- NCT01482715
- Testing
- Rucaparib
- Where
- 16 sites in United States, Canada and 3 more
- Volunteers
- 136 people
- Sponsor
- pharmaand GmbH
Relapsed Ovarian Cancer, BRCA Mutation, Platinum Sensitivity
Olaparib Treatment in Relapsed Germline Breast Cancer Susceptibility Gene (BRCA) Mutated Ovarian Cancer Patients Who Have Progressed at Least 6 Months After Last Platinum Treatment and Have Received at Least 2 Prior Platinum Treatments
Comparison of olaparib vs. physician's choice of single agent standard of care non-platinum based chemotherapy in patients with germline Breast Cancer susceptibility gene (gBRCA) mutated ovarian cancer who have progressed at…
- Trial name
- SOLO3 (NCT02282020)
- Testing
- OLAPARIB, Single agent chemotherapy
- Where
- 94 sites in United States, Argentina and 11 more
- Volunteers
- 266 people
- Sponsor
- AstraZeneca
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
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Stage I Breast Cancer, Stage II Breast Cancer
Niraparib + Dostarlimab In BRCA Mutated Breast Cancer
This research study involves pre-operative therapy that is specifically targeted for breast cancer in individuals with BRCA and PALB2 mutations.
- Conditions
- Stage I Breast Cancer, Stage II Breast Cancer, Stage III Breast Cancer, Breast Cancer
- Trial name
- NCT04584255
- Testing
- Niraparib, Dostarlimab
- Where
- 8 sites in United States
- Volunteers
- 66 people
- Sponsor
- Dana-Farber Cancer Institute
Hereditary Breast and Ovarian Cancer Syndrome, BRCA Mutations
Development and Validation of an Ovarian Cancer Risk Prediction Model for Family Members of Ovarian Cancer Probands
Ovarian cancer is the gynecological malignancy with the highest fatality rate, seriously threatening the life and health of women.
- Trial name
- NCT07039552
- Testing
- risk-reducing salpingo-oophorectomy (RRSO)
- Where
- China
- Volunteers
- 10,000 people
- Sponsor
- Peking University Third Hospital
Lynch Syndrome
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria.
- Trial name
- NCT03046849
- Testing
- next-generation sequencing
- Where
- 3 sites in China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
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
Breast Cancer, Hereditary Breast and Ovarian Cancer
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
PROGECT is a registry for patients with Triple Negative breast cancer (TNBC) or patients who have an identified germline mutations (such as a mutation on the BRCA1 or BRCA2 genes).
- Trial name
- PROGECT (NCT02302742)
- Where
- 11 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Early Breast Cancer
Talazoparib For Neoadjuvant Treatment Of Germline BRCA1/2 Mutation Patients With Early Human Epidermal Growth Factor Receptor 2 Negative Breast Cancer
A PHASE 2, NON RANDOMIZED, OPEN LABEL, SINGLE ARM, MULTI CENTER STUDY OF TALAZOPARIB FOR NEOADJUVANT TREATMENT OF GERMLINE BRCA1/2 MUTATION PATIENTS WITH EARLY HUMAN EPIDERMAL GROWTH FACTOR RECEPTOR 2 NEGATIVE BREAST CANCER
- Trial name
- NCT03499353
- Testing
- TALAZOPARIB
- Where
- 97 sites in United States
- Volunteers
- 61 people
- Sponsor
- Pfizer
Solid Tumor, Solid Tumor, Adult
UCSF Biobank for Hereditary Cancers and Tumor-Associated Mutations
This is a non-therapeutic clinical research biorepository protocol designed to obtain, store, and clinically annotate biospecimens from participants with hereditary cancers.
- Conditions
- Solid Tumor, Solid Tumor, Adult, Somatic Mutation, Solid Tumor, Unspecified, Adult
- Trial name
- NCT06895681
- Testing
- Blood Sample, Tissue Sample, Excess fluid Sample
- Sponsor
- University of California, San Francisco