Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

PDF

Dissertations & Theses (Open Access)

Theses/Dissertations

Genetics

Articles 1 - 1 of 1

Full-Text Articles in Medicine and Health Sciences

Characteristics Of Individuals Undergoing Panel Genetic Testing For Primary Brain Tumors, Sarah Azam May 2018

Characteristics Of Individuals Undergoing Panel Genetic Testing For Primary Brain Tumors, Sarah Azam

Dissertations & Theses (Open Access)

Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution. Our aim was to describe patient-specific characteristics and family histories across mutation-positive, negative, and variant of uncertain significance (VUS) cohorts based on cancer-panel genetic test results among patients with a PBT.

Methods. Subjects were referred for multi-gene panel testing between March 2012 and June 2016. Clinical data were ascertained from test requisition forms. The incidence of pathogenic mutations (including likely pathogenic) and VUS’s were …