BRCA1/2-Associated Hereditary Breast and Ovarian Cancer SyndromeNCT04494945
Identifying and Caring for Individuals With Inherited Cancer Syndrome
A study testing Biospecimen Collection, Genetic Counseling and Genetic Testing in people with BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome and Breast Ductal Carcinoma In Situ, run by OHSU Knight Cancer Institute at 2 sites in United States.
Trial summary
This trial examines approaches to identify and care for individuals with inherited cancer syndrome. The purpose of this study is to offer no cost genetic testing to the general public. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome, Breast Ductal Carcinoma In Situ, Hematopoietic and Lymphoid System Neoplasm
- What is being tested?
- Biospecimen Collection, Genetic Counseling and Genetic Testing
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 27,500 participants
- Where
- 2 sitesUnited States
- Study dates
- 9 Mar 2020to 31 Dec 2027
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- ALL COHORTS: 18 years of age or older
- Retrospective COHORT A: Per HIPAA waiver, Retrospective Cohort A will not actively consent
- Retrospective COHORT A: Patients may or may not be diagnosed with cancer
- Retrospective COHORT A: Patients have received genetic counseling in the past 5 years
- Retrospective COHORT A: Patients have genetic variants that include BRCA1, BRCA2 and/or Lynch syndrome
- COHORT A: Per Health Insurance Portability and Accountability Act (HIPAA) waiver, Cohort A returns survey as consent
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- COHORT A: Patients may or may not be diagnosed with cancer
- COHORT A: Patients have received genetic counseling in the past 1 - 2 years
- COHORT A: Patients have genetic variants that include BRCA1, BRCA2 and/or Lynch syndrome
- COHORT A: INCLUSIVE of no contact list to exclude from Cohort B
- COHORT B: Creation of secure Healthy Oregon Project (HOP) app account
- COHORT B: Consent to this project, either hard or electronic signature
- COHORT B: Consent to the HOP repository, either hard or electronic signature
- COHORT B: Choosing to submit a deoxyribonucleic acid (DNA) sample
- COHORT B: Patients diagnosed with any National Cancer Institute (NCI)-reportable cancers, including ductal carcinoma in situ (DCIS) and/or in situ breast cancer
- COHORT B: Must have had an encounter within past twelve months
- COHORT B: Exclude Cohort A
- COHORT C: Creation of secure Hop app account
- COHORT C: Consent to this project, either hard or electronic signature
- COHORT C: Consent to the HOP repository, either hard or electronic signature
- COHORT C: Choosing to submit a DNA sample
Who cannot join
None listed.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Providence Portland Medical Center
Portland, Oregon, 97213
Bill J. Wright, Ph.D., Bill.Wright@providence.org
Bill J. Wright, Ph.D.
- Recruiting
OHSU Knight Cancer Institute
Portland, Oregon, 97239
Jackilen Shannon, Ph.D., 503-494-4993, shannoja@ohsu.edu
Jackilen Shannon, Ph.D.
About this study
Official title: Approaches to Identify and Care for Individuals With Inherited Cancer Syndromes
This trial examines approaches to identify and care for individuals with inherited cancer syndrome. The purpose of this study is to offer no cost genetic testing to the general public. Researchers hope to learn the value of providing broad, public-wide testing for high risk cancer types (like hereditary breast and ovarian cancer or Lynch syndromes) instead of only testing people whose families are known to be high risk.
Read the detailed description
PRIMARY OBJECTIVE:
- Evaluate the effectiveness and sustainability of heritable cancer syndrome testing in two proposed screening populations compared to current guidelines.
SECONDARY OBJECTIVES:
- Measure adherence to current guidelines for screening and prophylactic intervention of Cohorts B and C compared to Cohort A to show non-inferiority.
II. Measure the efficiency of cascade testing (defined as the ratio of family members screened over total possible) for Cohorts B and C compared to Cohort A to show non-inferiority.
III. Determine the costs and effectiveness, specifically quality adjusted life years (QALYs) associated with genetic screening models based on Cohorts B and C to estimate incremental cost-effectiveness ratio (ICER) and show that the costs per QALY are below the acceptable cost effectiveness threshold.
OUTLINE:
Patients undergo collection of saliva samples for genetic testing. If genetic test is positive, patients receive genetic counseling. Patients also complete a survey about cancer prevention, screening, and treatment.
- Conditions
- BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome, Breast Ductal Carcinoma In Situ, Hematopoietic and Lymphoid System Neoplasm, Hereditary Neoplastic Syndrome, Lynch Syndrome, Malignant Solid Neoplasm
- Being tested
- Biospecimen Collection, Genetic Counseling, Genetic Testing, Survey Administration
- Medical subject headings
- Hereditary Breast and Ovarian Cancer Syndrome, Carcinoma, Intraductal, Noninfiltrating, Neoplastic Syndromes, Hereditary, Colorectal Neoplasms, Hereditary Nonpolyposis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biospecimen CollectionProcedure or surgery
Also called Biological Sample Collection
Undergo collection of saliva sample
Genetic CounselingOther
Receive genetic counseling if testing results are positive
Genetic TestingOther
Also called genetic analysis, Genetic Examination, Genetic Test
Undergo genetic testing
Survey AdministrationOther
Complete a survey
| Study group | Role | What they receive |
|---|---|---|
| Screening (genetic testing) | Other | Patients undergo collection of saliva samples for genetic testing. If genetic test is positive, patients receive genetic counseling. Receives: Procedure: Biospecimen Collection; Other: Genetic Counseling; Other: Genetic Testing; Other: Survey Administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
Effectiveness and sustainability of heritable cancer syndrome testing in the two novel testing populations
Determine the costs and effectiveness, specifically Quality Adjusted Life Years (QALYs) associated with genetic screening models based on Cohorts B and C to estimate incremental cost-effectiveness ratio (ICER) and show that the costs per QALY are below the acceptable cost effectiveness threshold.
Measured: Up to 5 years
Adherence to standard of care for hereditary breast and ovarian cancer (HBOC) and Lynch syndromes
For Lynch syndrome we identify compliance as colonoscopy in past two years and bilateral salpingo-oophorectomy (BSO ) after child-bearing age. For HBOC, compliance is defined as breast imaging in past year or risk reducing surgery at any point in women.
Measured: Up to 5 years
Merged risk reduction strategies of bilateral salpingo-oophorectomy (BSO) or bilateral mastectomy and imaging
The merged risk reduction strategies of BSO or bilateral mastectomy and the imaging are treated as evidence of risk reducing behavior.
Measured: Up to 5 years
Cascade screening rate among Lynch or HBOC positive carriers
Will conduct negative binomial regression model and non-inferiority will be determined by rate ratio and its 95% confidence interval (CI).
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jul 2020
- Study start9 Mar 2020
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA1/2-Associated Hereditary Breast and Ovarian Cancer SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 27,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- OHSU Knight Cancer Institute
- Sponsor type
- University, hospital or other
- Collaborators
- National Cancer Institute (NCI), Oregon Health and Science University
- Responsible party
- Principal investigator, Jackie Shannon, OHSU Knight Cancer Institute
- Investigators
- Jackilen Shannon, Ph.D., Principal investigator, OHSU Knight Cancer Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04494945
- Sponsor's protocol ID
- STUDY00020629
- Other IDs
- NCI-2020-04627, STUDY00020629, U01CA232819
- Status last verified
- Jan 2026
- First submitted
- 28 Jul 2020
- Last updated
- 14 Jul 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Data and samples collected under this protocol will be stored indefinitely in this study's repository for future research use. Participants must agree to future research use of their samples/data to participate in HOP. Data/samples from participants who identify as American Indian/Alaska Native will be flagged within the HOP database so they can be excluded from data/sample releases for research purposes. HOP has created a Data Access Committee (DAC) to review all requests for HOP data/samples. The DAC will review requests for feasibility and scientific merit before any data/samples are released. OHSU investigators wishing to receive data from this study will sign a data release agreement documenting they will: * Meet all IRB requirements (IRB approval, exemption or nonhuman subjects research determination), as appropriate. * Use data only for the research described in their data request and/or IRB application/ protocol and obtain additional IRB approval if secondary studies are