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

    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.
    LanguageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • The University of Western Australia
    Thesis sponsors
    Award date16 Oct 2017
    DOIs
    StatePublished - 2017

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    Exome
    Sarcoma
    Neoplasms
    Genes

    Cite this

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    title = "Identification of novel risk variants for sarcoma and other cancers by whole exome sequencing analysis in cancer cluster families",
    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.",
    keywords = "Sarcoma, hereditary, cancer-cluster family, Next generation sequencing, Whole Exome Sequencing, Cancer Genetics",
    author = "Jones, {Rachel Maree}",
    year = "2017",
    doi = "10.4225/23/59f13ee5d5573",
    language = "English",
    school = "The University of Western Australia",

    }

    TY - THES

    T1 - Identification of novel risk variants for sarcoma and other cancers by whole exome sequencing analysis in cancer cluster families

    AU - Jones,Rachel Maree

    PY - 2017

    Y1 - 2017

    N2 - 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.

    AB - 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.

    KW - Sarcoma

    KW - hereditary

    KW - cancer-cluster family

    KW - Next generation sequencing

    KW - Whole Exome Sequencing

    KW - Cancer Genetics

    U2 - 10.4225/23/59f13ee5d5573

    DO - 10.4225/23/59f13ee5d5573

    M3 - Doctoral Thesis

    ER -