Hereditary cancer
Conditions
Interventions
None listed
Sponsors
National Cancer Center Hospital East
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Cohort A: Diagnosed with solid tumors and meet the following (1), (2), or (3). (1) PGPVs of the genes that correspond to the disclosure recommendation level AAA - A in the Potentially Actionable SF Gene List are identified in F1LCDx and F1CDx with a VAF of 10% or higher. (2) PGPVs of BRCA1, BRCA2, or ATM have been identified in G360 with VAFs of 10% or higher. Cohort B: Patients diagnosed with solid tumors, and without consent for this study due to the patient's passing or other reasons, but meet the following (1) or (2). (1) Comprehensive consent was obtained and blood samples were collected for the study at the National Cancer Center Hospital from May 2011 to the date of the start of this study enrollment, and the following 1 or 2 apply. 1 PGPVs of the genes that correspond to the disclosure recommendation level AAA - A in the Potentially Actionable SF Gene List are identified in F1LCDx and F1CDx. 2 PGPVs of BRCA1, BRCA2, or ATM have been identified in G360. (2) PGV confirmed by F1LCDx and F1CDx, or Guardant360 for PGPV that correspond to the disclosure recommendation level AAA - A in the Potentially Actionable SF Gene List. Cohort C: Patients with or without a diagnosis of solid cancer who meet (1) or (2). (1) First-degree relatives of patients with confirmed PGV in Cohort A, D, E or MONSTAR-SCREEN-2. (2) Relatives of a patient with confirmed PGV who does not meet (1) but has been confirmed eligible by the study office. Cohort D: BRACAnalysis was conducted. Cohort E: Unstained pathology specimens prepared from formalin-fixed paraffin-embedded blocks are available and meet (1), (2) or (3). (1) Diagnosed with solid cancer and exhibiting MSI-H or dMMR. In the case of MSI-H or MLH1 protein deficiency in colorectal cancer, genetic testing or immunostaining results for BRAF V600E must be available. (2) Diagnosis of solid cancer and genetic testing confirms the diagnosis of LS. (3) Endoscopic evidence of multiple colorectal polyps.
Exclusion criteria
Exclusion criteria: 1. The physician in charge determines that the research subject is unsuitable for enrollment in this study in light of the subject's physical or mental condition. 2. Patients has a history of bone marrow transplantation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| PGV identification rate based on PGPV in liquid biopsy and sensitivity and specificity for confirmation of PGV at different VAF cutoffs. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. PGV identification rate based on PGPV in tumor tissue CGP and sensitivity and specificity for confirmation of PGV at different VAF cutoffs. 2. characteristics of the background of patients with confirmed PGPV in liquid biopsy 3. newly detected/confirmed PGV by MGP 4. Evaluation of DNA methylation profiles in MSI-H/dMMR solid tumors and polyposis coli. 5. usefulness of diagnosis for carriers in first-degree relatives of confirmed PGV patients. | — |
Countries
Japan
Contacts
Public ContactYumie Hiraoka
National Cancer Center Hospital East Department of Genetic Medicine and Service
Outcome results
None listed