Sökning: "mismatch repair genes"

Visar resultat 16 - 20 av 24 avhandlingar innehållade orden mismatch repair genes.

1. 16. Tools and pipelines for interpreting the impacts of genetic variants

   Författare :Abhishek Niroula; Proteinbioinformatik; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Genetic variants; Machine Learning; cancer genomics; Variation interpretation;

   Sammanfattning : Next generation sequencing (NGS) methods have been widely used for diagnosis. As time and cost of sequencing has reduced sharply during the last decade, genome and exome-wide sequencing have increasingly been used. LÄS MER

3. 17. Mechanisms and Consequences of Chromosomal Instability in Malignant tumours

   Författare :Ylva Stewénius; Avdelningen för klinisk genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; structural rearrangement; Ewing family tumour; Chromosomal instability; nephroblastoma; Wilms tumour; chromosomal aberration; anaphase bridge; subtelomeric FISH; breakage-fusion-bridge cycle;

   Sammanfattning : In this thesis, telomere deficiency with subsequent anaphase bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with the presence of multipolar mitoses. LÄS MER

4. 18. Molecular genetics of hereditary non-polyposis colorectal cancer

   Författare :Pia Tannergård; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Colorectal cancer (CRC) is one of the most prevalent malignancies in the Western World and one of the most predominant causes of death by cancer. There is a subgroup of syndromes with a high incidence of CRC which is transmitted in an autosomal dominant fashion. LÄS MER

5. 19. Molecular genetic studies of colorectal cancer

   Författare :Xiaolei Zhou; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Colorectal cancer CRC ; high-penetrance alleles; low-penetrance alleles; autism spectrum disorder ASD ; MSI; microarray; metastasis; hMLH3; APC; MYH; TJP3.;

   Sammanfattning : Colorectal cancer (CRC) is one of the leading causes of morbidity and mortality due to cancer in the Western countries. Epidemiological studies have shown that at least 20-30% of CRCs have a potentially identifiable genetic cause. LÄS MER

7. 20. Significance of molecular genetic alterations and apoptosis in colorectal cancer

   Författare :Sofia Evertsson; Linköpings universitet; []
   Nyckelord :MEDICINE; MEDICIN;

   Sammanfattning : Colorectal cancer is a serious health problem in Western societies. In Sweden it is the second most common malignancy among females, and the third in males, and the third leading cause of cancer related death in both sexes. To date it is known that several biological pathways can lead to colorectal cancer. LÄS MER