Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

Study Overview
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Brief Summary
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This study evaluates genetic testing to improve risk assessment and advance efforts to develop precision management for breast cancer by studying saliva samples for genotyping and evaluate associations with pathologic diagnoses and detailed pathologic and radiologic features.

Detailed Description
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PRIMARY OBJECTIVES: I. To collect saliva from 500 consenting women undergoing a clinically indicated breast biopsy, perform genotyping, and then assess the associations of polygenic risk score (PRS) (and related single nucleotide polymorphisms [SNPs]) to final diagnosis of ductal carcinoma in situ (DCIS), invasive breast cancer or benign breast disease (BBD); BBD severity; specific BBD lesions; and features of background benign lobules from which these lesions arise. II. To relate PRS (and related SNPs) to radiologic features, including breast density and sentinel lesions, such as masses, densities, calcifications, and asymmetries. III. To relate PRS (and related SNPs) to molecular markers in pathologic lesions and background tissues, including associations with breast cancer (BC) molecular subtypes (e.g., luminal, triple-negative (basal) and human epidermal growth factor receptor 2 [HER2] overexpressing) and biomarkers in BBD and lobules. OUTLINE: This is an observational study. Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed.

Official Title
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Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

Conditions
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Breast Carcinoma

Intervention / Treatment
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* Other: Non-Interventional Study


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: * Women over the age of 18 years Able to provide informed consent Referred for a radiologically guided breast biopsy Exclusion Criteria: * Men Women under the age of 18 years Unable to provide informed consent

Ages Eligible for Study
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Minimum Age: 18 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 |
| --- | --- |
| Observational<br>Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed. | Other: Non-Interventional Study<br>* Non-interventional study<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of subjects consented per month | Will be assessed by the percentage of eligible patients consented. | Baseline; Up to study completion (approximately 5 years) | 
| Deoxyribonucleic acid (DNA) quantity | Will analyze DNA from saliva sample to assess quantity for a validated polygenic risk score (PRS) for breast cancer. | Up to study completion (approximately 5 years) | 
| Deoxyribonucleic acid (DNA) quality | Will analyze DNA from saliva sample to assess quality for a validated PRS for breast cancer. | Up to study completion (approximately 5 years) | 
| Ability to perform genotyping using collected sample | Will perform genotyping on collected saliva sample using the Infinium Global Diversity Array test to generate a validated polygenic risk score (PRS) for breast cancer. Test results will be reviewed to assess whether the saliva sample contains enough (quantity) viable (quality) deoxyribonucleic acid (DNA) to provide accurate genotype results. | Up to study completion (approximately 5 years) | 
| Success in estimation of polygenic risk score (PRS) | Medical records will be reviewed and compared with study findings to determine success of PRS estimation. | Up to study completion (approximately 5 years) |