UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000046085 |
|---|---|
| Receipt number | R000052607 |
| Scientific Title | Observational study to evaluate the utility of confirmation of germline mutations in patients with solid tumors and relatives |
| Date of disclosure of the study information | 2021/11/16 |
| Last modified on | 2024/11/14 16:46:00 |
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Basic information
Public title
Observational study to evaluate the utility of confirmation of germline mutations in patients with solid tumors and relatives
Acronym
BRANCH study
Scientific Title
Observational study to evaluate the utility of confirmation of germline mutations in patients with solid tumors and relatives
Scientific Title:Acronym
BRANCH study
Region
| Japan |
Condition
Condition
Hereditary cancer
Classification by specialty
| Gastroenterology | Hepato-biliary-pancreatic medicine | Cardiology |
| Pneumology | Endocrinology and Metabolism | Hematology and clinical oncology |
| Nephrology | Neurology | Gastrointestinal surgery |
| Hepato-biliary-pancreatic surgery | Chest surgery | Breast surgery |
| Obstetrics and Gynecology | Ophthalmology | Dermatology |
| Oto-rhino-laryngology | Urology | Neurosurgery |
| Adult |
Classification by malignancy
Malignancy
Genomic information
YES
Objectives
Narrative objectives1
Patients with solid tumors in which presumed germline pathogenic variants are identified by circulating tumor DNA (ctDNA) or cancer genome profiling (CGP) of tumor tissues will be tested for confirmed pathogenic germline variants (PGVs). We will compare the utility of liquid biopsy and tumor tissue CGP in identifying PGVs and evaluate the utility of multi-gene panel (MGP) analysis in identifying hereditary cancer (cohort A/B/D/E). We will also evaluate the utility of MGP and MLH1 promoter DNA methylation analysis in confirming Lynch syndrome in solid tumors with microsatellite instability and familial colorectal adenomatosis in polyposis coli (cohort E). In addition, we will evaluate the feasibility of PGV carrier diagnosis for relatives of patients with confirmed PGV (Cohort C).
Basic objectives2
Others
Basic objectives -Others
Evaluate of the association of PGV identification rate and identified genes in genetic testing, VAF observed in CGP testing, etc. with clinicopathological factors, current disease history, medical history, and family history.
Trial characteristics_1
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
PGV identification rate based on PGPV in liquid biopsy and
sensitivity and specificity for confirmation of PGV at different VAF cutoffs.
Key secondary outcomes
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.
Base
Study type
Observational
Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment
Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
Interventions/Control_2
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10
Eligibility
Age-lower limit
| 18 | years-old | <= |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key 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.
Key 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.
Target sample size
1095
Research contact person
Name of lead principal investigator
| 1st name | Yoshiaki |
| Middle name | |
| Last name | Nakamura |
Organization
National Cancer Center Hospital East
Division name
Department of Gastroenterology and GI Oncology / Translational Research Support Section
Zip code
277-8577
Address
6-5-1 Kashiwanoha, Kashiwa-shi Chiba, Japan
TEL
04-7133-1111
yoshinak@east.ncc.go.jp
Public contact
Name of contact person
| 1st name | Yumie |
| Middle name | |
| Last name | Hiraoka |
Organization
National Cancer Center Hospital East
Division name
Department of Genetic Medicine and Service
Zip code
277-8577
Address
6-5-1 Kashiwanoha, Kashiwa-shi Chiba, Japan
TEL
04-7133-1111
Homepage URL
yhiraoka@east.ncc.go.jp
Sponsor or person
Institute
National Cancer Center Hospital East
Institute
Department
Personal name
Funding Source
Organization
Grant-in-Aid for Scientific Research (KAKENHI)
FALCO biosystems Ltd.
Organization
Division
Category of Funding Organization
Other
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
National Cancer Center Institutional Review Board
Address
5-1-1 Tsukiji, Chuo-ku, Tokyo, Japan
Tel
03-3542-2511
NCC_IRBoffice@ml.res.ncc.go.jp
Secondary IDs
Secondary IDs
NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW
Institutions
Institutions
国立がん研究センター東病院（千葉県）、国立がん研究センター中央病院（東京都）、神奈川県立がんセンター（神奈川県）、愛知県がんセンター（愛知県）、国立病院機構四国がんセンター（愛媛県）、埼玉県立がんセンター（埼玉県）、北海道大学病院（北海道）、東北大学病院（宮城県）、杏林大学医学部付属病院（東京都）、慶應義塾大学病院（東京都）、東京慈恵会医科大学（東京都）、がん研究会有明病院（東京都）、虎の門病院（東京都）、聖マリアンナ医科大学病院（神奈川県）、横浜市立大学附属市民総合医療センター（神奈川県）、千葉県がんセンター（千葉県）、亀田総合病院（千葉県）、筑波大学附属病院（茨城県）、埼玉医科大学国際医療センター（埼玉県）、金沢大学附属病院（石川県）、静岡県立静岡がんセンター（静岡県）、中部国際医療センター（岐阜県）、岐阜大学医学部附属病院（岐阜県）、藤田医科大学（愛知県）、三重大学医学部附属病院（三重県）、大阪医療センター（大阪府）、市立豊中病院（大阪府）、関西労災病院（大阪府）、神戸市立医療センター中央市民病院（兵庫県）、大阪大学医学部附属病院（大阪府）、大阪医科薬科大学病院（大阪府）、関西医科大学附属病院（大阪府）、京都桂病院（京都府）、大阪国際がんセンター（大阪府）、大阪急性期・総合医療センター（大阪府）、近畿大学病院（大阪府）、近畿大学奈良病院（奈良県）、宝塚市立病院（兵庫県）、香川大学医学部附属病院（香川県）、島根県立中央病院（島根県）、松江市立病院（島根県）、広島大学病院（広島県）、倉敷中央病院（岡山県）、徳島大学病院（徳島県）、高知大学医学部附属病院（高知県）、鳥取大学医学部附属病院（鳥取県）、国立病院機構九州がんセンター（福岡県）、九州大学病院（福岡県）、JCHO九州病院（福岡県）
Other administrative information
Date of disclosure of the study information
| 2021 | Year | 11 | Month | 16 | Day |
Related information
URL releasing protocol
Publication of results
Unpublished
Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description
Progress
Recruitment status
Enrolling by invitation
Date of protocol fixation
| 2021 | Year | 10 | Month | 22 | Day |
Date of IRB
| 2021 | Year | 11 | Month | 02 | Day |
Anticipated trial start date
| 2022 | Year | 03 | Month | 15 | Day |
Last follow-up date
| 2031 | Year | 03 | Month | 31 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
This is an observational study to: 1) compare the utility of liquid biopsy or tumor tissue CGP in identifying PGV by performing PGPV confirmation testing on PGPV detected by liquid biopsy or tumor tissue CGP, 2) evaluate the utility of MGP analysis in identifying hereditary tumors, 3) evaluate the utility of MGP analysis and DNA methylation analysis in confirming the diagnosis of Lynch syndrome and familial colorectal adenomatosis, and 4) evaluate the utility of MGP analysis in confirming the diagnosis of PGV in relatives of patients with confirmed PGV.
Management information
Registered date
| 2021 | Year | 11 | Month | 16 | Day |
Last modified on
| 2024 | Year | 11 | Month | 14 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000052607
