Sökning: "CDKN2A"

Visar resultat 1 - 5 av 48 avhandlingar innehållade ordet CDKN2A.

  1. 1. Malignant melanoma-Risk factors and the CDKN2A mutation in relation to phenotypes and other cancers

    Författare :Kari Nielsen; Lund Dermatologi och venereologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; clinically atypical nevus; nevus; CDKN2A; melanoma; risk factors; sunbed; UVR;

    Sammanfattning : Background: Cutaneous malignant melanoma (CMM) is an increasingly common cancer in fair-skinned people. The purpose of this thesis was to study high-risk patients with multiple tumours including a CMM, high-risk families with the unique Swedish germline mutation in CDKN2A(113insArg), as well as study risk factors for CMM in women. LÄS MER

  2. 2. Dissecting Phenotypic Variation in Pigmentation using Forward and Reverse Genetics

    Författare :Anders R Hellström; Uppsala universitet; []
    Nyckelord :Pigmentation; eumelanin; pheomelanin; knockout; Silver; SLC45A2; PMEL17; Sex-linked barring; CDKN2A; CDKN2B; ARF; chicken; Japanese quail; MEDICINE; MEDICIN; Molekylär genetik; Molecular Genetics;

    Sammanfattning : Coat color and patterning phenotypes have been extensively studied as a model for advancing our understanding of the relationship between genetic and phenotypic variation. In this thesis, genes of relevance for pigment cell biology were investigated. The dissertation is divided in two parts. LÄS MER

  3. 3. Malignant Melanoma in southern Sweden; Histopathology, Prognosis and Aetiology

    Författare :Anna Måsbäck; Tumörmikromiljö; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; General pathology; pathological anatomy; Patologi allmän ; patologisk anatomi; constitutional factors.; ulceration; tumour thickness; mutation; CDKN2A; aetiology; epidemiology; prognosis; survival; Malignant melanoma; histopathology;

    Sammanfattning : The purpose was to study the prognostic and aetiologic risk factors for melanoma in correlation to histopathology. Paper 1-3: Thin tumours (... LÄS MER

  4. 4. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

    Författare :Anjila Koul; Bröstca-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

    Sammanfattning : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. LÄS MER

  5. 5. Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutations

    Författare :Susanne Magnusson; Bröstca-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Childhood cancer; hereditary factors; breast cancer; survival; hereditary breast and ovarian cancer; hereditary non-polyposis colorectal cancer; familial malignant melanoma; BRCA1; BRCA2; mismatch repair; CDKN2A; familial risk; multiple childhood tumors; Li-Fraumeni syndrome; TP53; adrenocortical carcinoma; choroid plexus tumors; rhabdomyosarcoma;

    Sammanfattning : The etiology of childhood cancer is largely unknown. Approximately 1-10% of all childhood tumors are associated with known cancer predisposition syndromes. However, the contribution may be underestimated due to the failure to detect patients with genetic susceptibility for cancer when relying on known family pattern and anomalies. LÄS MER