Sökning: "BMPR1A"

Hittade 2 avhandlingar innehållade ordet BMPR1A.

  1. 1. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Författare :Anna Rohlin; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

    Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

  3. 2. Next generation sequencing to find genetic risk factors in familial cancer

    Författare :Jessada Thutkawkorapin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : In 2015, Cancer is the second leading cause of death worldwide. Genetic predisposition in familial cancer cases is largely unexplained. At the same time, rapid development in sequencing technology results in an unprecedented increase in the amount of whole exome- and whole genome sequencing data. LÄS MER