Sökning: "Li-Fraumeni syndrome"

Hittade 4 avhandlingar innehållade orden Li-Fraumeni syndrome.

  1. 1. 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

  3. 2. Heritable TP53-related cancer syndrome in Sweden : characterisation of genotype-phenotype correlation and surveillance

    Författare :Meis Omran; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Around 25% of all cancers are considered as familial and are caused by an inherited susceptibility to develop certain tumours. But only 5-10% are hereditary and caused by known high risk cancer genes associated with specific cancer risk syndromes. LÄS MER

  4. 3. Evaluation of genetic cancer predisposition and potential cancer genes

    Författare :Yaxuan Liu; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Germline pathogenic TP53 variants are associated with a broad spectrum of hereditary cancers characterized from Li-Fraumeni syndrome (LFS) to hereditary breast cancer (HBC) outcomes, known as heritable TP53-related cancer (hTP53rc) syndrome. LFS is a rare inherited cancer syndrome characterized by premenopausal breast cancer, soft tissue sarcoma, brain tumor, osteosarcoma, and adrenocortical carcinoma. LÄS MER

  5. 4. Mechanisms of cancer cell death by mutant p53-reactivating compound APR-246

    Författare :Sophia Ceder; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Tumor suppressor TP53 is the most frequently mutated gene in cancer. A majority of TP53 mutations result in a mutant p53 that disrupts its DNA binding capabilities but may also acquire novel gain-of-function activities that contribute to tumor growth. LÄS MER