Improving Management of Breast Biopsy With Genetic Testing

Overview

About this study

The purpose of this study is 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 DCIS, invasive breast cancer or BBD; BBD severity; specific BBD lesions; and features of background benign lobules from which these lesions arise.  Also, to relate PRS (and related SNPs) to radiologic features, including breast density and sentinel lesions, such as masses, densities, calcifications, and asymmetries. Additionally, to relate PRS (and related SNPs) to molecular markers in pathologic lesions and background tissues, including associations with BC molecular subtypes (e.g., luminal, triple-negative (basal) and HER2 overexpressing) and biomarkers in BBD and lobules.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

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.

Eligibility last updated 10/24/22. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Jacksonville, Fla.

Mayo Clinic principal investigator

Mark Sherman, M.D.

Open for enrollment

Contact information:

Laura Pacheco-Spann M.S.

(904) 953-0408

PachecoSpann.Laura@mayo.edu

More information

Publications

Publications are currently not available