Sökning: "MSH6"

Visar resultat 6 - 10 av 11 avhandlingar innehållade ordet MSH6.

  1. 6. Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome

    Författare :Patrick Joost; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mismatch repair; Lynch syndrome; immunohistochemistry; microsatellite instability; heterogeneity; cumulative incidence; colorectal cancer; urothelial cancer; prostate cancer; renal cell cancer;

    Sammanfattning : Mismatch repair (MMR) deficiency is carcinogenic and can either have somatic/sporadic causes (i.e. epigenetic silencing or somatic inactivation) or hereditary causes (Lynch syndrome due to a germline mutation in one of the MMR genes ¬- MLH1, MSH2, MSH6, PMS2). LÄS MER

  3. 7. Mismatch repair deficiency in colorectal cancer : prognosis and prediction for basic treatment strategies

    Författare :Ioannis Gkekas; Jan Novotny; Karin Strigård; Richard Palmqvist; Ulf Gunnarsson; Christian Sturesson; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; defective mismatch repair; prognosis and prediction; Oncology; onkologi;

    Sammanfattning : Colorectal cancer (CRC) remains a significant healthcare problem worldwide, being the third most common cancer and the fourth most frequent cause of cancer death. Environmental and dietary factors such as alcohol abuse, cigarette smoking, and genetic predisposition seem to constitute the main aetiologies. LÄS MER

  4. 8. Effect of genetic polymorphisms on urinary bladder neoplasms

    Författare :Somali Sanyal; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :urinary bladder neoplasms; polymorphisms; metabolism; DNA repair; cell-cycle regulation;

    Sammanfattning : Urinary bladder neoplasms (UBNs) are among the most common malignancies in the world and are mainly attributed to exogenous risk factors such as, smoking, exposure to industrial aromatic amines and certain medicinal drugs which cause DNA damage. The entire process leading to DNA damage and subsequent repair of the damage involves a plethora of enzymes including those involved in metabolic and DNA repair processes. LÄS MER

  5. 9. Improving endometrial carcinoma diagnostics

    Författare :Denis Nastic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Endometrial carcinoma is the most common gynecological malignancy and greatly affects global disease burden. Despite it being among the most common cancers it is relatively understudied and until recently poorly understood. LÄS MER

  7. 10. 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