Combined Breast Cancer Risk Study

Evaluation of a Combined Breast Cancer Risk Derived From a Polygenic Risk Score and the Tyrer-Cuzick Model

A prospective, non-interventional study in women 18 to 84 years of age. Subjects will provide a sample for genetic testing and information about their medical and family history. The results of the genetic test will be combined with clinical data to validate a method of predicting breast cancer risk.

Study Overview

• Status: Completed
• Conditions: Hereditary Cancer
• Intervention / Treatment: Diagnostic test: Diagnostic test

Detailed Description

This is a prospective, non- interventional study. Women presenting at imaging centers for routine breast cancer screening or breast cancer diagnostic assessment and who provide written informed consent will undergo genetic testing. Subjects will also provide information about their personal medical and cancer history and family cancer history. The results of the genetic test will be combined with the subject's clinical information, family history, and a risk assessment model to validate a new method of predicting breast cancer.

• Study Type: Observational
• Enrollment (Actual): 553

Contacts and Locations

Study Locations

• United States
  • Arkansas
    • Fayetteville, Arkansas, United States, 72703
      • The Breast Center of Northwest Arkansas
  • Florida
    • Boynton Beach, Florida, United States, 33437
      • Bethesda Health
  • Massachusetts
    • Hyannis, Massachusetts, United States, 02601
      • Cuda Women's Health Center
  • New York
    • Rochester, New York, United States, 14620
      • Elizabeth Wende Breast Care

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 84 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Women presenting at imaging centers for a breast cancer diagnostic assessment visit or preventative screening visit.

Description

Inclusion Criteria:

Women without breast cancer:

• 18 to 84 years of age
• Western/Northern European, Central/Eastern European, or Ashkenazi ancestry
• No history of invasive breast cancer

Women with a history of breast cancer:

• 18 to 84 years of age
• Western/Northern European, Central/Eastern European, or Ashkenazi ancestry
• Pathologically confirmed invasive breast cancer diagnosed within the past 12 months

Exclusion Criteria:

• Unwilling to provide written informed consent
• Women with history of ductal carcinoma in situ (DCIS).
• Patient has had a prior breast biopsy, exclusive of a breast biopsy diagnostic of breast cancer, that showed either hyperplasia, atypical hyperplasia, lobular carcinoma in situ (LCIS), or the specific histologic result is unknown to the patient

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
History of invasive breast cancer; Subjects with a diagnosis of invasive breast cancer within the past 12 months will provide a blood or saliva sample for genetic diagnostic testing and provide information about their personal medical and cancer history and family cancer history.	Diagnostic test: Diagnostic test; Genetic diagnostic test
No history of invasive breast cancer; Subjects with no history of breast cancer will provide a blood or saliva sample for genetic diagnostic testing and provide information about their personal medical and cancer history and family cancer history.	Diagnostic test: Diagnostic test; Genetic diagnostic test

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To demonstrate that a combined breast cancer risk derived from a polygenic risk score and a breast cancer risk assessment model is a better predictor of breast cancer than the risk assessment model alone	Baseline

Secondary Outcome Measures

Outcome Measure	Time Frame
To derive a distribution of polygenic risk scores in an unselected patient population	baseline

Collaborators and Investigators

• Sponsor: Myriad Genetic Laboratories, Inc.
• Investigators: Study Director: John Holmsn, MD, Myriad Genetics, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): February 6, 2016
• Primary Completion (Actual): January 8, 2019
• Study Completion (Actual): January 8, 2019

Study Registration Dates

• First Submitted: February 24, 2017
• First Submitted That Met QC Criteria: February 24, 2017
• First Posted (Actual): March 1, 2017

Study Record Updates

• Last Update Posted (Actual): January 15, 2019
• Last Update Submitted That Met QC Criteria: January 14, 2019
• Last Verified: January 1, 2019

More Information

Terms related to this study

• Other Study ID Numbers: HCP-018

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No