Clinical trials: Germline Mutation Abnormality
Prostate Cancer
PROMISE Registry: A Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness
PROMISE aims to create a comprehensive nationwide registry of prostate cancer patients with germline pathogenic variants by prospectively screening approximately 5,000 subjects with a confirmed prostate cancer diagnosis, either…
- Trial name
- NCT04995198
- Where
- 3 sites in United States
- Volunteers
- 500 people
- Sponsor
- Prostate Cancer Clinical Trials Consortium
TP53 Gene Mutation, Multi-Gene Transcriptional Profiling
Germline Genetic Testing of the TP53 Gene
This is a retrospective, observational, single-center study designed as a cohort analysis. The study population will include consecutive patients referred for genetic counseling and TP53 germline genetic testing between 2004 and…
- Conditions
- TP53 Gene Mutation, Multi-Gene Transcriptional Profiling, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT07419893
- Where
- Italy
- Volunteers
- 1,940 people
- Sponsor
- European Institute of Oncology
Prostate Cancer Metastatic, Prostate Cancer Recurrent
Molecular Profiling in Prostate Cancer
We aim to employ targeted DNA NGS to evaluate the prevalence of germline and somatic mutations in cancer predisposing genes, such as BRCA1 and BRCA2, and other HR and DDR genes, including also a few additional clinically relevant…
- Conditions
- Prostate Cancer Metastatic, Prostate Cancer Recurrent, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation
- Trial name
- ProProstate (NCT04983628)
- Testing
- Tumor molecular profiling
- Where
- Greece
- Volunteers
- 250 people
- Sponsor
- Hellenic Cooperative Oncology Group
Breast Cancer (Early Breast Cancer), BRCA 1 Gene Mutation
Combination of Mitomycin and Carboplatin in Neoadjuvant Therapy in BRCA-associated Triple-negative Locally Advanced Breast Cancer
This study was designed to evaluate the safety and efficacy of neoadjuvant therapy with mitomycin and carboplatin in patients with BRCA-associated locally advanced triple-negative breast cancer.
- Conditions
- Breast Cancer (Early Breast Cancer), BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- MCarb-T (NCT07821229)
- Testing
- Neoadjuvant Chemotherapy (NACT)
- Where
- Russia
- Volunteers
- 30 people
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
Myeloproliferative Disease, Germline Mutation
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
The classic Ph-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic disorders caused by a dysregulated JAK/STAT signal transduction because of acquired somatic mutations of JAK2, CALR or MPL genes.
- Trial name
- NCT07204392
- Where
- Italy
- Volunteers
- 313 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Ovarian Cancer
Alpelisib Plus Olaparib in Platinum-resistant/Refractory, High-grade Serous Ovarian Cancer, With no Germline BRCA Mutation Detected
The objective of this study was to evaluate the efficacy and safety of alpelisib in combination with olaparib compared with single-agent cytotoxic chemotherapy in participants with platinum-resistant or platinum-refractory…
- Trial name
- NCT04729387
- Testing
- Alpelisib, Olaparib, Paclitaxel
- Where
- 93 sites in United States, Argentina and 24 more
- Volunteers
- 358 people
- Sponsor
- Novartis Pharmaceuticals
Ovarian Cancer, Breast Cancer
Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
A Prospective, Multicentre, Phase-IV Clinical Trial of Olaparib in Indian Patients with Platinum Sensitive Relapsed Ovarian Cancer who are in Complete or Partial Response Following Platinum based Chemotherapy and Metastatic…
- Trial name
- SOLI (NCT04330040)
- Testing
- Olaparib
- Where
- 16 sites in India
- Volunteers
- 202 people
- Sponsor
- AstraZeneca
Prostate Adenocarcinoma, Stage IIIB Prostate Cancer AJCC v8
Carboplatin Chemotherapy Before Surgery for People With High-Risk Prostate Cancer and an Inherited BRCA1 or BRCA2 Gene Mutation
This phase II trial tests how well carboplatin before surgery works in treating patients with high-risk prostate cancer and an inherited BRCA1 or BRCA2 gene mutation.
- Conditions
- Prostate Adenocarcinoma, Stage IIIB Prostate Cancer AJCC v8, Stage IIIC Prostate Cancer AJCC v8
- Trial name
- NCT05806515
- Testing
- Biospecimen Collection, Carboplatin, Chest Radiography
- Where
- 133 sites in United States
- Volunteers
- 44 people
- Sponsor
- SWOG Cancer Research Network
BRCA1 Mutation, BRCA2 Mutation
Promoting Men's Adherence to BRCA1/2 Germline Genetic Testing
BRCA1- and BRCA2-associated Hereditary Breast and Ovarian Cancer Syndrome (HBOC) increases the relative and absolute risk of developing breast and ovarian cancer and, to a lesser extent, prostate and pancreatic cancer.
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Psychosocial Factors
- Trial name
- BRCA-MEN (NCT04683068)
- Testing
- Message comparison
- Where
- Italy
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- European Institute of Oncology
Breast Cancer
Adherence to Intensive Surveillance for Hereditary Breast Cancer
Women with strong family histories of breast cancer are at increased risk to have breast cancer. Women whose close relatives have had breast cancer often have more breast cancer screening than other women their age.
- Trial name
- NCT00582803
- Where
- United States
- Volunteers
- 85 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Breast Cancer
Study Evaluating DNA Double-strand Breaks (DSBs) REpair Factors (POLQ, Shieldin Complex and 53BP1) Expression as Biomarker of PARP Inhibitor Resistance in Patients With Deleterious Germline Mutation in BRCA 1/2 and HER2-negative, Metastatic or Locally Advanced Breast Cancer.
The purpose of this study is to assess whether expression of not only POLQ/Polθ, but also Shieldin complex and/or 53BP1 are correlated with primary and/or acquired resistance to PARPi (Poly(ADP-Ribose) Polymerases inhibitors) in…
- Trial name
- REPARP (NCT05378204)
- Testing
- Main study:, Sub-study:
- Where
- 25 sites in France
- Volunteers
- 120 people
- Sponsor
- Institut Claudius Regaud
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to…
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
- Trial name
- NCT06080165
- Testing
- Sirolimus
- Where
- 3 sites in United States
- Sponsor
- Stanford University
Women With BRCA1 Germline Deleterious Mutation
Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)
BRCA1 carriers who are at high risk of developing either a relapse and/or a new cancer growth will be included. These patients will be followed up during 30 months (2,5 years) with mutated TP53 mutation detection or during 42…
- Trial name
- NCT02608346
- Testing
- Blood sampling
- Where
- 4 sites in France
- Volunteers
- 200 people
- Sponsor
- Institut Curie
Breast Cancer Metastatic, BRCA 1 Gene Mutation
Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations.
This open label, randomised, controlled, multi-centre phase III study will assess the efficacy and safety of single agent olaparib vs standard of care based on physician's choice of capecitabine, vinorelbine or eribulin in…
- Conditions
- Breast Cancer Metastatic, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- OlympiAD (NCT02000622)
- Testing
- Olaparib, Physician's choice chemotherapy
- Where
- 171 sites in United States, Bulgaria and 17 more
- Volunteers
- 302 people
- Sponsor
- AstraZeneca
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
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
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
Pancreas Cancer, Peutz-Jeghers Syndrome (PJS)
The Cancer of the Pancreas Screening-5 CAPS5)Study
Johns Hopkins clinical research office quality assurance group will monitor and audit this study at Johns Hopkins. The Sub Investigator at each site will be responsible for internal monitoring at their site.
- Conditions
- Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier
- Trial name
- CAPS5 (NCT02000089)
- Testing
- Secretin, MRI, Tumor marker gene test with CA19-9
- Where
- 9 sites in United States
- Volunteers
- 9,000 people
- Sponsor
- Johns Hopkins University
Hereditary Cancer Syndrome, High-Risk
Integrative Sequencing In Germline and Hereditary Tumours
This study will investigate the utility of integrative sequencing of individuals and families at risk of hereditary cancer syndromes and will uncover novel contributors to tumourigenesis. Integrative sequencing refers to: 1.
- Conditions
- Hereditary Cancer Syndrome, High-Risk, Mutation, Germline Mutation
- Trial name
- INSIGHT (NCT03857594)
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- University Health Network, Toronto
Ovarian Cancer
Study of IMP4297 in Patients With BRCA1/2 Mutation Ovarian Cancer
A phase II, multi-center, open-label, single-arm, non-randomized study to evaluate the efficacy, safety and tolerability of IMP4297 capsules in subjects with germline and/or somatic BRCA1/2 mutated advanced ovarian cancer in china
- Trial name
- SABRINA (NCT04089189)
- Testing
- IMP4297
- Where
- China
- Volunteers
- 93 people
- Sponsor
- Impact Therapeutics, Inc.