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Browsing by discipline "Cancer genetics"

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  • Jonkka, Susanna (2016)
    Ovarian cancer is known as "the silent killer" because it is generally diagnosed at a late stage, and is therefore responsible for more deaths than any other gynecological malignancy. Although the genetic background of high-grade serous carcinoma (HGSC) is highly heterogeneous, almost all HGSCs harbor TP53 mutations, and mutations in BRCA1 and BRCA2 are also frequent. Less is known about the chromosomal rearrangements that function as drivers of HGSC. The aim of this thesis project was to identify and validate novel and recurrent chromosomal rearrangements that may have a functional relevance in the tumorigenesis of high-grade serous carcinoma. We searched for recurrent rearrangements detected by a computational algorithm (BreakDancer) in 44 HGSC whole-genome sequences that were obtained from The Cancer Genome Atlas database. We identified five samples to harbor a novel region that was affected by recurrent deletions of similar size. This region was located upstream of the gene TUBB4A on chromosome 19. We used PCR to screen for rearrangements within this region in 11 Finnish patient tumor tissues. None of these samples displayed rearrangements within this region. Further studies with larger sample sizes are required to validate whether this region indeed is recurrently affected by chromosomal abnormalities. Identifying chromosomal rearrangements of functional relevance will pave the way towards the use of personalized medicine.