Combined Breast Cancer Risk Study

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Hereditary Cancer

Intervention / Treatment
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* Diagnostic Test: Diagnostic test


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 84 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| History of invasive breast cancer<br>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<br>* Genetic diagnostic test<br>|
| No history of invasive breast cancer<br>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<br>* Genetic diagnostic test<br>|

What is the study measuring?
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Primary Outcome Measures

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