Sökning: "CDKN2A"

Visar resultat 1 - 5 av 52 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; 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

3. 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

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

   Författare :Anna Måsbäck; Tumörmikromiljö; []
   Nyckelord :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

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

   Författare :Anjila Koul; Bröstcancer-genetik; []
   Nyckelord :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

7. 5. Of Mice and MYC : Modelling Medulloblastoma

   Författare :Oliver Mainwaring; Fredrik J. Swartling; Charles Eberhart; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medulloblastoma; MYC; Group 3; Cdkn2a; ARF; HSP90; Chromosome 17q; Medicinsk vetenskap; Medical Science; Oncology; Onkologi;

   Sammanfattning : Brain tumours are the leading cause of cancer-related paediatric deaths, with medulloblastoma (MB) being the most common malignant paediatric brain tumour. MB is stratified into four major subgroups – WNT, SHH, Group 3, and Group 4, nomenclature defined by key pathways and drivers involved within each subgroup. LÄS MER