Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

Mayo Clinic

Status

Suspended

Conditions

Breast Carcinoma

Treatments

Other: Non-Interventional Study

Study type

Observational

Funder types

Other

Identifiers

NCT06060561

NCI-2023-06044 (Registry Identifier)

22-011193 (Other Identifier)

Details and patient eligibility

About

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.

Full description

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.

Enrollment

500 estimated patients

Sex

Female

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria