Search for dissertations about: "TP53 mutations"

Showing result 1 - 5 of 56 swedish dissertations containing the words TP53 mutations.

2. 1. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

   Author : Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

   Abstract : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. READ MORE

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

   Author : Susanne Magnusson; Bröstcancer-genetik; []
   Keywords : 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;

   Abstract : 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. READ MORE

5. 3. Mantle cell lymphoma strategies in primary treatment

   Author : Alexandra Albertsson Lindblad; Tumörmikromiljö; []
   Keywords : 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;

   Abstract : 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. READ MORE

6. 4. TP53 mutations in myelodysplastic syndromes with deletion of 5q

   Author : Leonie Saft; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : The myelodysplastic syndromes (MDS) constitute a heterogeneous group of malignant bone marrow disorders characterized by peripheral cytopenia(s) and increased risk of progression to acute myeloid leukemia (AML). International Prognostic Scoring system (IPSS) Low- or Intermediate (INT)-1 risk MDS with a deletion of 5q (del5q) were considered to have an indolent course and a low risk for progression to AML as compared to other MDS subtypes. READ MORE

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

   Author : Anjila Koul; Bröstcancer-genetik; []
   Keywords : 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;

   Abstract : 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. READ MORE