Breast Carcinoma
Conditions
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.
Interventions
OTHERNon-Interventional Study
Non-interventional study
Sponsors
Mayo Clinic
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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) 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. |
| 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. |
| 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. |
| 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORMark E. Sherman, M.D.
Mayo Clinic
Outcome results
None listed