Sökning: "germline mutations"

Visar resultat 1 - 5 av 69 avhandlingar innehållade orden germline mutations.

1. 1. Hereditary Breast Cancer in South Sweden. Early findings from studies on the role of BRCA1

   Författare :Oskar Thor Johannsson; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; survival analysis; CGH; mRNA in situ hybridization; germline mutations; LOH; Breast neoplasm; BRCA1; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

   Sammanfattning : The thesis presents the results from investigations into the role of BRCA1 in hereditary cancer in South Sweden. Loss of heterozygosity (LOH) studies found loss of the wildtype allele of BRCA1 to be common in BRCA1 associated breast cancer, but due to the high degree of LOH on chr. LÄS MER

3. 2. 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

4. 3. Mutations and molecular signatures in human melanoma

   Författare :Braslav Jovanovic; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Cutaneous melanoma is a disease which results from a complex mixture of various extrinsic and intrinsic factors, with some major players still unknown. Although primary tumors are highly curable with surgical excision, particularly those which are non-ulcerated and have a thickness of less than 1 mm, poor survival rates are observed in advanced disease. LÄS MER

5. 4. 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

7. 5. Regulation of germline transcription in the immunoglobulin heavy chain locus

   Författare :Jurga Laurencikiene; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : During an immune response, activated B cells develop into high rate immunoglobulin (Ig) secreting plasma cells. They also switch from production of IgM to IgG, IgA or IgE. Specific isotypes of antibodies have functional and structural features that make them particularly well suited to defend against different types of pathogens. LÄS MER