Identification of novel risk variants for sarcoma and other cancers by whole exome sequencing analysis in cancer cluster families

Rachel Maree Jones

    Research output: ThesisDoctoral Thesis

    3181 Downloads (Pure)

    Abstract

    This thesis describes whole exome sequencing of 19 individuals from three cancer families ascertained from a sarcoma proband; Identifying eight germline and 13 somatic candidate risk variants. Variant burden analyses were performed on the corresponding 21 candidate genes in 561 sarcoma cases and 1,144 controls validating six genomic loci (four novel) associated with risk of sarcoma. The results provide new targets of potential clinical utility and demonstrate the power of sequencing a small number of cancer families, with subsequent validation of findings in larger unrelated case and control cohorts, to Identify novel candidate risk genes.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • The University of Western Australia
    Supervisors/Advisors
    • Melton, Phillip, Supervisor
    • Ingley, Evan, Supervisor
    • Moses, Eric, Supervisor
    • Wood, David, Supervisor
    • Thomas, David , Supervisor, External person
    Thesis sponsors
    Award date16 Oct 2017
    DOIs
    Publication statusUnpublished - 2017

    Fingerprint

    Dive into the research topics of 'Identification of novel risk variants for sarcoma and other cancers by whole exome sequencing analysis in cancer cluster families'. Together they form a unique fingerprint.

    Cite this