Cancer Genetics Hereditary Cancer Panel Testing

NCT02324062 | Completed DMC

• 1 other identifier: 0S-13-1
• Study Type: observational
• Target: 1,511
• Locations: 1 country
• Sites: 2

Brief Summary

This study is about understanding the use of a genetic test (Myriad Genetics myRisk panel) that analyzes 25 genes related to different hereditary cancer conditions. The investigators hope to learn more about how this type of genetic test is used clinically. The investigators also hope to understand more about the experience of individuals and families who undergoing this test of genetic testing.

Conditions

Hereditary Breast and Ovarian Cancer

Keywords

Cancer Genetics; Multi-gene cancer panel testing

Outcome Measures

Primary Outcomes (1)

• Develop Hereditary Cancer panel repository

  Develop a resource (repository and database) with banked specimens, HCP panel results, pre-clinical and follow up information and impact of the HCP results

  3 years

Secondary Outcomes (3)

• Analyze frequency of genes found on HCP panel in high-risk population

  3 years

• Follow medical management of subjects after multi-gene panel testing

  5 years

• Descriptive analysis of patient information gained through process

  5 years

Study Arms (4)

Pathogenic group

Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. Patients identified with a mutation in a gene not commonly tested for prior to the advent of multiplex panel testing. This excludes BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MYH unless a patient tested positive for one of these 9 genes but did not meet clinical criteria for the underlying syndrome (n = 124). These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months.

Other: Questionnaires; Other: Blood Draw and Baseline Questionnaire

VUS group

Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. Patients identified with a variant of unknown significance of any gene of any nonBRCA (BRCA1 and BRCA2) or non-Lynch syndrome gene (MLH1, MSH2, MSH6, PMS2 and EPCAM). Target accrual is 100. These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months.

Other: Questionnaires; Other: Blood Draw and Baseline Questionnaire

Negative Group

Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. Patients who test negative for all the genes tested. Target goal is 50 for Stanford (100 for the study). These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months.

Other: Questionnaires; Other: Blood Draw and Baseline Questionnaire

No follow-up intervention group

Blood Draw and Baseline Questionnaire: Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer. All other participants who do not meet any of the above criteria or fall into one of these groups after the target goal is met for that group.

Other: Blood Draw and Baseline Questionnaire

Interventions

Blood Draw and Baseline Questionnaire OTHER

Participants will have their blood drawn for the study and complete a baseline questionnaire about their current cancer screening practices and concern regarding cancer.

Negative Group; No follow-up intervention group; Pathogenic group; VUS group

Questionnaires OTHER

These participants will be asked to complete questionnaires for the duration of the study (up to 60 months after enrollment) at 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months.

Negative Group; Pathogenic group; VUS group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

High-risk cancer genetics populations. Both male and female participants will be recruited.

You may qualify if:

• Any individual with multiple primary cancers
• Any individual diagnosed with cancer under age 50
• Individuals with two or more first or second-degree relatives with cancer.
• Individuals from families where at least one family member was diagnosed with cancer under age 50
• Individuals meeting a phenotypic diagnosis of specific hereditary cancer syndromes including, but not limited to:
• Hereditary Breast and Ovarian Cancer
• Lynch Syndrome
• Familial or Attenuated Adenomatous Polyposis Syndrome
• Hereditary Melanoma Syndrome
• Hereditary Pancreatic Syndrome
• Li Fraumeni Syndrome
• Cowden Syndrome
• Hereditary Diffuse Gastric Cancer
• Peutz Jeghers Syndrome
• Juvenile Polyposis Syndrome

You may not qualify if:

• Patients meeting one of the following criteria will be excluded the study
• Individuals with a pretest mutation probability of \< 2.5% based on validated published models
• Prior genetic testing for germline cancer susceptibility
• Inability to provide written informed consent

Sponsors & Collaborators

• University of Southern California: lead
• Stanford University: collaborator

Study Sites (2)

University of Southern California/ Kenneth Norris, Jr. Comprehensive Cancer Center and Hospital

Los Angeles, California, 90089-9181, United States

Location

Stanford University

Stanford, California, 94305, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood and Saliva

MeSH Terms

Conditions

Hereditary Breast and Ovarian Cancer Syndrome

Interventions

Surveys and Questionnaires; Blood Specimen Collection

Condition Hierarchy (Ancestors)

Breast Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Neoplasms; Endocrine Gland Neoplasms; Neoplastic Syndromes, Hereditary; 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

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative

Study Officials

• Gregory Idos, MD

  Assistant Professor

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 14, 2014
• First Posted: December 24, 2014
• Study Start: June 12, 2014
• Primary Completion: August 31, 2020
• Study Completion: August 31, 2020
• Last Updated: February 18, 2026

Record last verified: 2026-02

Locations

US (2)