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  • BRCA1  (1)
  • Breast neoplasms  (1)
  • Hereditary susceptibility  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Diseases of the colon & rectum 39 (1996), S. 739-743 
    ISSN: 1530-0358
    Schlagwort(e): Colorectal cancer ; Family history ; Hereditary nonpolyposis colorectal cancer ; Hereditary susceptibility
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Close relatives of patients with colorectal cancer are at an increased risk of developing a colorectal malignancy themselves. PURPOSE: A study was conducted to compare risks in relatives of patients diagnosed at different ages. METHODS: Family histories were taken from two cohorts of patients with colorectal cancer: Group A, a population group of 65 patients diagnosed at or under 45 (median, 42) years; Group B, 212 patients of all ages (median, 68 years) treated in a single surgeon's practice. RESULTS: Overall relative risk of colorectal cancer in first-degree relatives was 5.2 in Group A and 2.3 in Group B. There was familial clustering of colorectal cancers suggestive of hereditary nonpolyposis colorectal cancer in 13 (20 percent) families to Group A but to only 3 (1.5 percent) families in the second group. Cumulative incidence of colorectal cancer for relatives of the young cohort rose steeply from 40 years, reaching 5 percent at age 50 years and 10 percent at age 70 years. This contrasts with risk for relatives of older patients, in whom the shape of the curve resembles that of the overall population risk, reaching 5 percent at age 70 years and 10 percent at age 80 years. CONCLUSIONS: There appears to be a quantitative and qualitative increase in risk to relatives of patients diagnosed at a young age compared with those diagnosed later to life, at least part of which is likely to be the result of a hereditary susceptibility. Close relatives of early onset cases warrant more intensive endoscopic screening and at an earlier age than relatives of patients diagnosed at older ages.
    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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