Sökning: "hereditary"

Visar resultat 6 - 10 av 286 avhandlingar innehållade ordet hereditary.

  1. 6. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation

    Författare :Zakaria Einbeigi; Göteborgs universitet; []
    Nyckelord :BRCA1 gene; breast neoplasm; ovarian neoplasm; hereditary; haplotype;

    Sammanfattning : Aims: To describe the phenotype and geographic distribution of the western Swedish founder mutation BRCA1 3171ins5, evaluate the reliability of mutation analysis of this mutation on archival material, analyse the haplotype for founder effects in families with BRCA1 3171ins5 mutation, estimate the age of this mutation and evaluate whether the occurrence of both breast and ovarian cancers in the same women may be a marker of a BRCA gene mutation. Materials and methods: The first study was based on 16 families with BRCA1 3171ins5 mutation and the second study was based on 18 families with the same mutation. LÄS MER

  3. 7. Hereditary Angioedema in Sweden : a National Project

    Författare :Patrik Nordenfelt; Jan Fredrik Björkander; Carl-Fredrik Wahlgren; Mats Nilsson; Hilary J. Longhurst; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Background: Hereditary angioedema (HAE) due to C1-inhibitor deficiency, type I and II, is a rare disease with an estimated prevalence of 1/50,000. Angioedema in the larynx can be life threatening and angioedema in the abdomen and skin can give severe and disabling pain. Data on patients with HAE in Sweden were scarce before our study. LÄS MER

  4. 8. Someone has to tell them : exploring hereditary cancer risk disclosure in Sweden

    Författare :Carolina Hawranek; Anna Rosén; Senada Hajdarevic; Beatrice S. Melin; Barbro Numan Hellquist; Maria Katapodi; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; hereditary cancer; prevention; family disclosure; family communication; cancer worry; risk information; at-risk relatives; cascade testing; genetic counselling; public opinion; Oncology; onkologi; Genetics; genetik;

    Sammanfattning : Summary in EnglishBackground: An awareness of hereditary susceptibility for breast, ovarian and colorectal cancer in high-risk families enables targeted cancer prevention. A discovered hereditary risk in one family member (proband) may thus be important for several members of that family. LÄS MER

  5. 9. Gene Expression Profiling of Hereditary Breast Cancer

    Författare :Ingrid Hedenfalk; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; non-BRCA1 BRCA2; BRCAx; MYB; cDNA microarray; gene expression profiling; tissue microarray; Cytology; oncology; cancerology; Cytologi; cancer; onkologi; BRCA2; Hereditary breast cancer; BRCA1;

    Sammanfattning : [abstract missing].... LÄS MER

  7. 10. Hereditary factors in endometrial cancer

    Författare :Gerasimos Tzortzatos; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Endometrial carcinoma (EC) is the most common gynecological malignancy in Sweden and accounts for about 6 % of all female malignancies. The risk of EC increases with age and the majority of cases are diagnosed between age 50 and 60. Ninety percent of cases occur in women older than age 50. LÄS MER