Identifying and Caring for Individuals With Inherited Cancer Syndrome

NCT04494945 | Recruiting

• 3 other identifiers: STUDY00020629NCI-2020-04627U01CA232819
• Study Type: interventional
• Target: 27,500
• Locations: 1 country
• Sites: 2

Brief 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. 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.

Conditions

Breast Ductal Carcinoma In Situ; Hematopoietic and Lymphoid System Neoplasm; Hereditary Neoplastic Syndrome; Lynch Syndrome; Malignant Solid Neoplasm; BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome

Outcome Measures

Primary Outcomes (4)

• 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.

  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.

  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.

  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).

  Up to 5 years

Study Arms (1)

Screening (genetic testing)

OTHER

Patients undergo collection of saliva samples for genetic testing. If genetic test is positive, patients receive genetic counseling.

Procedure: Biospecimen Collection; Other: Genetic Counseling; Other: Genetic Testing; Other: Survey Administration

Interventions

Biospecimen Collection PROCEDURE

Undergo collection of saliva sample

Also known as: Biological Sample Collection

Screening (genetic testing)

Genetic Counseling OTHER

Receive genetic counseling if testing results are positive

Screening (genetic testing)

Genetic Testing OTHER

Undergo genetic testing

Also known as: genetic analysis, Genetic Examination, Genetic Test

Screening (genetic testing)

Survey Administration OTHER

Complete a survey

Screening (genetic testing)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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
• 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

Sponsors & Collaborators

• OHSU Knight Cancer Institute: lead
• National Cancer Institute (NCI): collaborator
• Oregon Health and Science University: collaborator

Study Sites (2)

Providence Portland Medical Center

Portland, Oregon, 97213, United States

RECRUITING

OHSU Knight Cancer Institute

Portland, Oregon, 97239, United States

RECRUITING

MeSH Terms

Conditions

Hereditary Breast and Ovarian Cancer Syndrome; Carcinoma, Intraductal, Noninfiltrating; Neoplastic Syndromes, Hereditary; Colorectal Neoplasms, Hereditary Nonpolyposis

Interventions

Genetic Counseling; Genetic Testing

Condition Hierarchy (Ancestors)

Breast Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Neoplasms; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Gonadal Disorders; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Breast Carcinoma In Situ; Carcinoma in Situ; Neoplasms, Ductal, Lobular, and Medullary; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Genetic Services; Health Services; Health Care Facilities Workforce and Services; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Diagnostic Services; Preventive Health Services

Study Officials

• Jackilen Shannon, Ph.D.

  OHSU Knight Cancer Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: July 28, 2020
• First Posted: July 31, 2020
• Study Start: March 9, 2020
• Primary Completion: March 31, 2026
• Study Completion: March 31, 2026
• Last Updated: January 23, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share

Locations

US (2)