• Libraries
    • Log in to:
    View Item 
    •   MSpace Home
    • Rady Faculty of Health Sciences
    • College of Medicine - B.Sc. (Med) Projects
    • View Item
    •   MSpace Home
    • Rady Faculty of Health Sciences
    • College of Medicine - B.Sc. (Med) Projects
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    The Accuracy of Clinical Criteria to Predict Mutations in BRCA1- and BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome

    Thumbnail
    View/Open
    Colizza, Kate 2011.pdf (708.9Kb)
    Date
    2012-03-12
    Author
    Colizza, Kate
    Metadata
    Show full item record
    Abstract
    The Hereditary Breast and Ovarian Cancer (HBOC) Clinic located in Winnipeg accepts province-wide referrals to assess cancer risk and provide testing for mutations in BRCA1 and BRCA2 when indicated. Given the economic realities of public health care, a limited number of patients can be offered full gene testing. Manitoba has developed fourteen eligibility criteria based on personal and family history of breast and ovarian cancer that are thought to identify patients with at least a 10% chance of having a mutation. In this retrospective clinic-based study, we evaluate the association between these criteria and mutation frequency to determine which characteristics are statistically associated with BRCA1 and BRCA2 mutations. Information from hospital and lab records was collected for 429 probands tested between 1995 and 2010. Twenty-one percent of probands tested through the HBOC Clinic were found to have a disease-causing BRCA1 or BRCA2 mutation. Consistent with other studies, multiple tumor diagnoses and a strong family history of breast/ovarian cancer were the characteristics most strongly associated with the finding of mutations. Ethnicity of the Manitoba population in relation to BRCA1 or BRCA2 mutation frequency was also explored. The recurrent mutations found in the study population partially reflected the ethnic composition of the Manitoba population. All of the criteria examined in this study are achieving ≥10% mutation detection rate, but some re-evaluation is recommended to explore broadening criteria based on personal history of tumors and to adjust ethnic-specific screening by adding a Mennonite and dropping one of the Eastern European founder mutations.
    URI
    http://hdl.handle.net/1993/5159
    Collections
    • College of Medicine - B.Sc. (Med) Projects [206]

    DSpace software copyright © 2002-2016  DuraSpace
    Contact Us | Send Feedback
    Theme by 
    Atmire NV
     

     

    Browse

    All of MSpaceCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects

    My Account

    Login

    Statistics

    View Usage Statistics

    DSpace software copyright © 2002-2016  DuraSpace
    Contact Us | Send Feedback
    Theme by 
    Atmire NV