Sökning: "germline mutation."

Visar resultat 1 - 5 av 60 avhandlingar innehållade orden germline mutation..

1. 1. 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

3. 2. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Författare :Annika Bergman; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER

4. 3. Full circle : Rise and fate of genetic variation in Marasmius oreades fairy rings

   Författare :Markus Hiltunen; Hanna Johannesson; Martin Ryberg; Jason Stajich; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; mushroom; fairy ring; Marasmius; mutation; fungi; genomics; Biology with specialization in Systematics; Biologi med inriktning mot systematik;

   Sammanfattning : Genetic variation is a prerequisite for evolution. The degree of variability within a species is governed by forces including mutation, recombination and selection. LÄS MER

5. 4. 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

7. 5. 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