Sökning: "Germline variants"

Visar resultat 1 - 5 av 32 avhandlingar innehållade orden Germline variants.

  1. 1. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

    Författare :Laura Duran Lozano; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; multiple myeloma; CRISPR Cas9; cancer genetics; functional characterization; Germline variants;

    Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER

  3. 2. Analysis of inherited and somatic variants to decipher canine complex traits

    Författare :Kate Megquier; Kerstin Lindblad-Toh; Ingegerd Elvers; David Sargan; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; dog; genetics; GWAS; exome; cancer; DM;

    Sammanfattning : This thesis presents several investigations of the dog as a model for complex diseases, focusing on cancers and the effect of genetic risk factors on clinical presentation.In Papers I and II, we performed genome-wide association studies (GWAS) to identify germline risk factors predisposing US golden retrievers to hemangiosarcoma (HSA) and B-cell lymphoma (BLSA). LÄS MER

  4. 3. Functional analysis of genetic variants in putative low penetrate breast cancer genes

    Författare :Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

    Sammanfattning : Paper I & II: CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). LÄS MER

  5. 4. Cancer risk and predisposition in families with childhood cancer

    Författare :Karl-Johan Stjernfelt; Lund Pediatrik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Pediatric; Childhood Cancer; Heredity; Genetics; predisposition; Familial cancer;

    Sammanfattning : BACKGROUND: Recent whole genome sequencing studies report that up to 6% of the childhood cancer population harbour a pathogenic variant. Identification of families with hereditary cancer may improve early detection of cancer as well as treatment outcome. LÄS MER

  7. 5. 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