Title of Study: Frequency and clinical spectrum of germline PTEN mutations in a hospital population based series of invasive breast cancer cases.
Nicknames:CCF PTEN Study, CCF Breast Cancer Study, CCF PTEN Breast Cancer Study
Principal Investigator: Charis Eng, MD, PhD
Genetic Counselor Coordinator: : Jessica Mester CGC. (email: mesterj@ccf.org)
Study Coordinator:Dawn Caraballo (email: carabad@ccf.org)
This is an internal Cleveland Clinic Foundation research study designed to accurately assess the germline PTEN mutation frequency among incident invasive breast cancer cases and to correlate presenting clinical findings to PTEN mutation status. Finding a germline PTEN mutation has implications for further medical management of the individual including treatment and surveillance and implications for her family. Comparing specific presenting clinical and pathologic features in those with mutations to those without, will help clinicians target breast cancer cases for referral to, and testing with, cancer genetics professionals. This series will also be used to identify the frequencies of mutations in novel genes within the PTEN pathway that are related to breast cancer.
Women over age 18, who have been recently diagnosed with an incident invasive breast cancer and are receiving care at the Cleveland Clinic Foundation
If you are a CCF Practitioner and have a patient who may be eligible please contact the Genetic Counselor Coordinator, Jessica Mester CGC for more information.
Study Checklist