Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

Suspended

• Conditions: Breast Carcinoma
• Interventions: Other: Non-Interventional Study

• Registration Number: NCT06060561
• Lead Sponsor: Mayo Clinic

Brief Summary

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

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 Timeline

• Study Start: 2023-05-30
• Study First Submitted: 2023-09-22
• Study First Submitted QC: 2023-09-27
• Study First Posted: 2023-09-29
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-15
• Last Update Posted: 2025-05-19
• Primary Completion: 2028-06-30
• Study Completion: 2028-06-30

Recruitment & Eligibility

• Status: SUSPENDED
• Sex: Female
• Target Recruitment: 500

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Observational	Non-Interventional Study	Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed.

Primary Outcome Measures

Name	Time	Method
Deoxyribonucleic acid (DNA) quantity	Up to study completion (approximately 5 years)	Will analyze DNA from saliva sample to assess quantity for a validated polygenic risk score (PRS) for breast cancer.
Number of subjects consented per month	Baseline; Up to study completion (approximately 5 years)	Will be assessed by the percentage of eligible patients consented.
Deoxyribonucleic acid (DNA) quality	Up to study completion (approximately 5 years)	Will analyze DNA from saliva sample to assess quality for a validated PRS for breast cancer.
Success in estimation of polygenic risk score (PRS)	Up to study completion (approximately 5 years)	Medical records will be reviewed and compared with study findings to determine success of PRS estimation.
Ability to perform genotyping using collected sample	Up to study completion (approximately 5 years)	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.

Trial Locations

Locations (1)

Mayo Clinic in Florida; 🇺🇸 Jacksonville, Florida, United States