Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

Breast Carcinoma Clinical Trial

Official title:

Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06060561
• Other study ID #: 22-011193
• Secondary ID: NCI-2023-0604422
• Status: Recruiting
• Start date: May 30, 2023
• Est. completion date: June 30, 2028

Study information

• Verified date: April 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: June 30, 2028
• Est. primary completion date: June 30, 2028
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Breast Carcinoma
• Breast Neoplasms

Intervention

Other:
• Non-Interventional Study
Non-interventional study

Locations

Country	Name	City	State
United States	Mayo Clinic in Florida	Jacksonville	Florida

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of subjects consented per month	Will be assessed by the percentage of eligible patients consented.	Baseline; Up to study completion (approximately 5 years)
Primary	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)
Primary	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)
Primary	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)
Primary	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)