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.
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.
Study Type
OBSERVATIONAL
Enrollment
500
Non-interventional study
Mayo Clinic in Florida
Jacksonville, Florida, United States
Number of subjects consented per month
Will be assessed by the percentage of eligible patients consented.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Up to study completion (approximately 5 years)
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.