On hereditary ovarian cancer: Towards improved management of BRCA1/2 mutation carriers in opposite sides of the world

Natalia Teixeira

    Research output: ThesisThesis fully internal (DIV)

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    BRCA1/2 mutation carriers have an increased risk of ovarian cancer when compared to the general population. Identifying BRCA1/2 mutation carriers has potential clinical benefits for prevention, early detection and guiding treatment options for cancer. The aim of this thesis was to improve care of mutation carriers both in low/middle- and in high-income countries. For that, three aspects of hereditary ovarian cancer associated with BRCA1/2 mutations were explored: identification of mutation carriers in limited resources settings, possible causes of variation in ovarian cancer risk among mutation carriers, and the long term consequences of risk reducing salpingo-oophorectomy (RRSO).
    The results indicate that algorithms for estimating the probability of identifying a mutation in an individual, although still limited in accuracy, can be an important tool for the implementation of genetic testing when resources are not available to test all ovarian cancer patients. Mutations in the central parts of the BRCA1/2 genes appear to be associated with higher ovarian cancer risks than mutations in other portions of the genes. Furthermore, a family history of breast or ovarian cancer also affects ovarian cancer risks in BRCA1/2 mutation carries and this association is not completely explained by the effect of mutation position on the gene. Regarding the consequences of preventive surgery, RRSO is associated with a more atherogenic cholesterol profile. When compared to natural menopause, surgical menopause has no evident impact on bone mineral density and fracture prevalence. Application of these results can contribute to improving identification, counselling, and long-term management for BRCA1/2 mutation carriers.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    • de Bock, Truuske, Supervisor
    • Mourits, Marian, Supervisor
    • Folgueira, Maria Aparecida Koike, Supervisor, External person
    • Oosterwijk, Jan, Co-supervisor
    • Buskens, Erik, Assessment committee
    • Kenter, G. G., Assessment committee, External person
    • Asperen, C.J., Assessment committee, External person
    Award date23-Oct-2017
    Place of Publication[Groningen]
    Print ISBNs978-94-034-0098-3
    Electronic ISBNs978-94-034-0063-1
    Publication statusPublished - 2017

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