Clinical trial NCT03067389: Combined Breast Cancer Risk Study
Official title: Evaluation of a Combined Breast Cancer Risk Derived From a Polygenic Risk Score and the Tyrer-Cuzick Model
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hereditary Cancer
Lead sponsor: Myriad Genetic Laboratories, Inc.
Sponsor class: INDUSTRY
First posted: 2017-03-01
Enrollment: 553
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 84
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Women presenting at imaging centers for a breast cancer diagnostic assessment visit or preventative screening visit.

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: 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
timeFrame: Baseline
Secondary outcomes:
measure: To derive a distribution of polygenic risk scores in an unselected patient population
timeFrame: baseline
Other outcomes:
Locations:
city: Fayetteville
country: United States
facility: The Breast Center of Northwest Arkansas
state: Arkansas
city: Boynton Beach
country: United States
facility: Bethesda Health
state: Florida
city: Hyannis
country: United States
facility: Cuda Women's Health Center
state: Massachusetts
city: Rochester
country: United States
facility: Elizabeth Wende Breast Care
state: New York
Study officials:
affiliation: Myriad Genetics, Inc.
name: John Holmsn, MD
role: STUDY_DIRECTOR
References: