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.

Study Overview

• Status: Suspended
• Conditions: Breast Carcinoma
• Intervention / Treatment: Other: Non-Interventional Study

Detailed 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.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

Study Locations

• United States
  • Florida
    • Jacksonville, Florida, United States, 32224-9980
      • Mayo Clinic in Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Women referred for a radiologically guided breast biopsy.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Observational; Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed.	Other: Non-Interventional Study; Non-interventional study

What is the study measuring?

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)

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: Mark E. Sherman, M.D., Mayo Clinic

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): May 30, 2023
• Primary Completion (Estimated): June 30, 2028
• Study Completion (Estimated): June 30, 2028

Study Registration Dates

• First Submitted: September 22, 2023
• First Submitted That Met QC Criteria: September 27, 2023
• First Posted (Actual): September 29, 2023

Study Record Updates

• Last Update Posted (Estimated): August 29, 2025
• Last Update Submitted That Met QC Criteria: August 25, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Skin and Connective Tissue Diseases; Breast Neoplasms
• Other Study ID Numbers: 22-011193 (Other Identifier: Mayo Clinic Institutional Review Board); NCI-2023-06044 (Registry Identifier: CTRP (Clinical Trial Reporting Program))

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No