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  • BRCA1  (1)
  • Breast neoplasms  (1)
  • Key words Familial aggregation  (1)
  • 1
    ISSN: 1432-0428
    Schlagwort(e): Key words Familial aggregation ; diabetes mellitus ; nephropathy.
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Both non-insulin-dependent diabetes mellitus and diabetic nephropathy show familial aggregation. If diabetes and renal disease have independent determinants (genetic or otherwise), offspring of parents with diabetic renal disease should have a similar risk of diabetes to those offspring of parents with diabetes alone. To test this hypothesis, the prevalence of diabetes was examined in a population-based pedigree study in Pima Indian offspring of three mutually exclusive parental types: 1) diabetic with renal disease, 2) diabetic, but without renal disease and 3) non-diabetic. Among offspring of one diabetic parent and one non-diabetic parent (n = 320) the prevalence of diabetes at ages 15–24 years and 25–34 years was 0 % and 11 %, respectively if the diabetic parent did not have renal disease compared with 6 % and 28 % respectively if the diabetic parent did have renal disease. Corresponding rates for offspring of two diabetic parents (n = 121) were 10 % and 17 %, respectively if neither parent had renal disease compared with 30 % and 50 %, respectively if one parent did have renal disease. The presence of renal disease in a parent with diabetes relative to diabetes alone was associated with 2.5 times the odds of diabetes (95 % confidence interval 1.4–4.3) in the offspring controlled for age, age at onset of parental diabetes and diabetes in the other parent using logistic regression. These findings provide support for parental diabetic renal disease, independent of age at onset of parental diabetes, conferring an increased risk for diabetes in the offspring. The results are compatible with the hypothesis that the susceptibility to renal disease in the parents and to diabetes in the offspring are due to shared familial environmental factors or to the same gene or set of genes. [Diabetologia (1995) 38: 221–226]
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Annals of oncology 10 (1999), S. 113-119 
    ISSN: 1569-8041
    Schlagwort(e): BRCA1 ; BRCA2 ; inherited susceptibility ; penetrance ; linkage mapping
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Background. Epidemiological studies have repeatedly shown that having a family history is a risk factor for female (and male) breast cancer. Some rare families have many (4 or more) cases of early onset breast cancer (some of which also include women with ovarian cancer) which are most clearly explained by an autosomal dominant gene with high penetrance. Design. Families with multiple cases of early onset breast (and/or ovarian cancer) have been studied using linkage analysis with the intention of finding the chromosomal region containing such genes. Results. Two predisposition genes, BRCA1 and BRCA2, have been mapped and cloned. Mutations in these genes confer increased risks of cancer, although the precise level of the increased risk is still unclear. The majority of families with four or more cases of breast cancer diagnosed under the age of 60 years are due to mutations in BRCA1 or BRCA2. Conclusions. The importance of these two genes to familial breast cancer and to breast cancer incidence overall is becoming clearer, the current information is reviewed. The findings can be immediately translated into clinical practice for these multiple case families. The identification of such families raises a number of other important clinical questions concerning patient management.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    Cancer causes & control 5 (1994), S. 458-470 
    ISSN: 1573-7225
    Schlagwort(e): Breast neoplasms ; case-control studies ; familial risk ; genetics ; pedigree analysis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Clinical observations suggest that breast cancer is occasionallyinherited as an autosomal dominant disease in families. Epidemiologic studies consistently have shown that a history of breast cancer in a first-degree relative increases a woman's risk of breast cancer when compared with the general population. The risk is similar if a mother or sister is affected and is increased further if both are affected. The difficulty with such an observation is that in itself it does not clarify the nature of the true underlying risk factors which could be genetic or due to the aggregation of environmental risk factors in families. Complex segregation analysis of breast cancer aggregation in families suggests that breast cancer susceptibility is due to an autosomal dominant inheritance of one or more rare genes in a few families in which carriers have a high probability of developing the disease perhaps as great as 100 percent. Close linkage of a breast-cancer-susceptibility gene (BRCA1), between markers of the chromosomal region 17q12-q21 on the long arm of chromosome 17, with breast cancer recently has been reported. Families linked to BRCA1 were more likely to have early onset of breast cancer or have breast and ovarian cancer in the family. It is likely that other genes play a role in the unlinked breastcancer families. Both the epidemiologic and genetic data suggest that breast cancer is a heterogeneous disease.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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