Sökning: "fusion transcripts"

Visar resultat 1 - 5 av 18 avhandlingar innehållade orden fusion transcripts.

1. 1. Expression and Mutation Analyses of Candidate Cancer Genes In Situ

   Författare :Sara Kiflemariam; Tobias Sjöblom; Fredrik Pontén; Mef Nilbert; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; in situ; in situ hybridization; padlock probes; mRNA; tyrosine kinases; tyrosine phosphatases; fusion transcripts;

   Sammanfattning : Cancers display heterogeneity in genetic profiles of the individual cancer cells and in the composition of different malignant and non-malignant cell populations. Such intra-tumor heterogeneity plays a role in treatment response and the emergence of resistance to cancer therapies. LÄS MER

3. 2. Detection of fusion genes and fusion proteins in sarcoma : methodological and clinical aspects

   Författare :Gunnar Nilsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Ewing s sarcoma; synovial sarcoma; translocation; fusion gene; fusion protein; diagnosis and prognosis;

   Sammanfattning : Ewing's sarcoma/PNET and synovial sarcoma, all regarded as high-grade tumours, have their peak incidence during the second decade of life, thus affecting children and adolescents. Both tumour types have specific chromosomal translocations, i.e. t(11;22) and t(X;18), respectively, resulting in fusion genes coding for chimeric proteins. LÄS MER

4. 3. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

   Författare :Marta Persson; Göteborgs universitet; []
   Nyckelord :cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

   Sammanfattning : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. LÄS MER

5. 4. Minimal Residual Disease Assessment in Childhood Acute Lymphoblastic Leukemia

   Författare :Ingrid Thörn; Christer Sundström; Richard Rosenquist; Gisela Barbany; Johan Botling; Kjeld Schmiegelow; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Childhood acute lymphoblastic leukemia; minimal residual disease; IG TCR gene rearrangements; BCR-ABL1 fusion gene transcripts; real-time quantitative PCR; multicolor flow cytometry; Pathology; Patologi; Pathology; patologi;

   Sammanfattning : Traditionally, response to treatment in hematological malignancies is evaluated by light microscopy of bone marrow (BM) smears, but due to more effective therapies more sensitive methods are needed. Today, detection of minimal residual disease (MRD) using immunological and molecular techniques can be 100 times more sensitive than morphology. LÄS MER

7. 5. Computational Analysis of Tumour Heterogeneity

   Författare :Stefanie Friedrich; Erik Sonnhammer; Martin Hemberg; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; tumour heterogeneity; human genome and gene expression analyses; pathway annotation; fusion transcript detection; copy number calling; and high-resolution data; Biochemistry towards Bioinformatics; biokemi med inriktning mot bioinformatik;

   Sammanfattning : Every tumour is unique and characterised by its genetic, epigenetic, phenotypic, and morphological signature. The diversity observed between and within tumours, and over time, is termed tumour heterogeneity. An increased heterogeneity within a tumour correlates with cancer progression, higher resistance rates, and poorer outcome. LÄS MER