Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy

NCT ID: NCT06060561

Last Updated: 2025-08-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

SUSPENDED

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-05-30

Study Completion Date

2028-06-30

Brief Summary

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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

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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.

Conditions

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Breast Carcinoma

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Observational

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

Non-Interventional Study

Intervention Type OTHER

Non-interventional study

Interventions

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Non-Interventional Study

Non-interventional study

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Mark E. Sherman, M.D.

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic in Florida

Jacksonville, Florida, United States

Site Status

Countries

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United States

Related Links

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Other Identifiers

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NCI-2023-06044

Identifier Type: REGISTRY

Identifier Source: secondary_id

22-011193

Identifier Type: OTHER

Identifier Source: secondary_id

22-011193

Identifier Type: -

Identifier Source: org_study_id

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