Characteristics of Individuals Undergoing Panel Genetic Testing For Primary Brain Tumors

<p>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.</p> <p>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 calculated for each gene and patient cohort.</p> <p>Results. Almost all tumors were glial (n=293, 53%) or meningeal pathology (n=222, 40%). Age of diagnosis differed significantly between glial and meningeal tumors (pCHEK2 (20/104), <em>BRCA2 </em>(13/104), <em>PMS2 </em>(10/104), <em>TP53 </em>(8/104), and <em>APC </em>(8/104). Of 165 patients with available family history information, nearly all (n=157, 95%) reported a family history of some cancer.</p> <p>Conclusions. Our data suggest PBTs can be the primary presenting cancer in hereditary syndromes with a known PBT risk. While pathology is helpful in narrowing down the differential diagnosis, patients’ pathology can be atypical in relation to their hereditary cancer syndrome. Family history evaluations are a beneficial risk assessment modality, particularly until testing criteria are developed for PBTs. Further research is necessary for the development of genetic testing criteria in the PBT population and more robust identification of at-risk individuals.</p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2018

Author dc:creator

• Azam, Sarah

Contributors dc:contributor

• Leslie Dunnington
• Michelle Jackson
• Krista Qualmann

• Primary brain tumors
• Genetics
• Genetic testing
• Panel testing
• Hereditary cancer
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
• Medicine and Health Sciences

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/849

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-1894