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Access Type

WSU Access

Date of Award

January 2022

Degree Type

Dissertation

Degree Name

Ph.D.

Department

Molecular Biology and Genetics

First Advisor

Michael A. Tainsky

Abstract

Patients with familial cancer patterns frequently test negative for known pathogenic germline mutations in cancer risk genes. To address this missing link in the diagnosis of hereditary cancer syndromes and to improve the quality and accuracy of cancer genetic testing, a number of variants of unknown significance in the known risk genes ATM and BRCA2 were selected after presenting in a cohort of ovarian cancer patients with likely hereditary cancer syndromes but no genetic diagnosis. In vitro functional assays were carried out on all the variants, and provide consistent and definitive data indicating loss of function in several of these variants. These may be responsible for the missing heritability seen in this cohort, and widespread application of this method could be useful in addressing the low sensitivity of current genetic testing panels.

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