Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy
Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy
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.
Inclusion Criteria:
* Women over the age of 18 years
Exclusion Criteria:
* Men