Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

NCT06060561 | Suspended

• 2 other identifiers: 22-011193NCI-2023-06044
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

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.

Conditions

Breast Carcinoma

Outcome Measures

Primary Outcomes (5)

• 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)

Study Arms (1)

Observational

Patients undergo saliva sample collection and complete questionnaires on study. Patients' medical records are reviewed.

Other: Non-Interventional Study

Interventions

Non-Interventional Study OTHER

Non-interventional study

Observational

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Women referred for a radiologically guided breast biopsy.

You may qualify if:

• \* Women over the age of 18 years
• Able to provide informed consent
• Referred for a radiologically guided breast biopsy

You may not qualify if:

• \* Men
• Women under the age of 18 years
• Unable to provide informed consent

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic in Florida

Jacksonville, Florida, 32224-9980, United States

Location

Related Links

• Mayo Clinic Clinical Trials

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Mark E. Sherman, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 22, 2023
• First Posted: September 29, 2023
• Study Start: May 30, 2023
• Primary Completion (Estimated): June 30, 2028
• Study Completion (Estimated): June 30, 2028
• Last Updated: August 29, 2025

Record last verified: 2025-08

Locations

US (1)