Sökning: "CDKN2A"

Visar resultat 6 - 10 av 52 avhandlingar innehållade ordet CDKN2A.

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

   Författare :Susanne Magnusson; Bröstcancer-genetik; []
   Nyckelord :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

3. 7. Mantle cell lymphoma strategies in primary treatment

   Författare :Alexandra Albertsson Lindblad; Tumörmikromiljö; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mantle cell lymphoma; registry data; Clinical Trial; Phase I; Clinical Trial; Phase II; rituximab; bendamustine; lenalidomid; ibrutinib; ADCC; in vitro model; TP53 mutations; watchful waiting; mantle cell lymphoma; real-world data; lenalidomide; rituximab; bendamustin; ibrutinib; ADCC; TP53 mutation; CDKN2A; NGS; MIPI; Watchful waiting;

   Sammanfattning : Mantle cell lymphoma (MCL) is associated with poor prognosis due to an aggressive clinical course. Being a rare disease, there are few randomized trials in MCL and there is no defined golden standard in primary treatment. LÄS MER

4. 8. Germline CDKN2A/ARF alterations in human melanoma

   Författare :Jamileh Hashemi; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Familial melanoma; germline mutation; CDKN2A; p16; p14ARF; cell cycle;

   Sammanfattning : Approximately 10% of cases of human cutaneous malignant melanoma (CMM) have been estimated to occur in individuals with a familial predisposition, frequently in association with dysplastic nevus syndrome (DNS). The genetics of familial melanoma is complex and heterogeneous. To date only two melanoma predisposing genes have been identified. LÄS MER

5. 9. Gene x lifestyle interactions in type 2 diabetes mellitus and related traits

   Författare :Ema C Brito; Paul Franks; Aline Meirhaeghe; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene x environment interaction; gene x lifestyle interaction; physical activity; type 2 diabetes; European Youth Heart Study; Malmö Preventive Project; Prevalence and Prediction and Prevention of Diabetes in Botnia; PPARGC1A; CDKN2A B; HNF1B; TCF7L2; FTO; Epidemiology; Epidemiologi; epidemiologi; Epidemiology; genetik; Genetics;

   Sammanfattning :   Background: Type 2 diabetes is thought to result from interactions between genetic and lifestyle factors, but few robust examples exist. The overarching aim of this thesis was to discover such interactions by studying cohorts of white youth and adults from northern Europe in which physical activity, genotypes, and diabetes-related traits or diabetes incidence had been ascertained. LÄS MER

7. 10. Genotype-phenotype studies in brain tumors

   Författare :Soma Ghasimi; Ulrika Andersson; Beatrice Melin; Roger Henriksson; Clemens Dirven; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioma; Meningioma; SNP; IHC; FISH; LRIG2; EGF; EGFR; ERBB2; ER; CDKN2A B; IDH1; onkologi; Oncology;

   Sammanfattning : Meningioma and glioma are the most common primary brain tumors, but their etiologies are largely unknown. Although meningioma is usually benign, their intracranial location can lead to lethal consequences, and despite progress in surgery, radiotherapy, and chemotherapy the prognosis for patients with glioma remains poor. LÄS MER