In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene. We identified four germline mutations in three breast cancer families and in one breast-ovarian cancer family. Among these were one frameshift mutation, one nonsense mutation, one novel splice site mutation, and one missense mutation. The missense mutation was also found in 2.8% of the general population, suggesting that it is not disease associated. The average age of disease onset in those families harbouring causative mutations was between 32.3 and 37.4 years, whereas the family harbouring the missense mutation had an average age of onset of 51.2 years. In this study, 45 German breast/ovarian cancer families have been systematically studied for germline mutations in the BRCA1 gene.The entire coding sequence of the BRCA1 gene was screened using single strand conformational polymorphism (SSCP) analysis, the protein truncation test (PTT), followed by sequencing analysis. The results confirm previous findings with respect to the paucity of mutations in exon 1 1 in the German population and that only a small proportion of families exhibiting an aggregation of early onset breast cancer appears to be the result of mutations in the BRCA1 gene.
Material and methods
FAMILIESForty-five families, 37 breast cancer families and eight breast-ovarian cancer families of German origin, were analysed in this study. All families contained three or more affected members with at least two diagnosed under the age of 60 years. Thirty-two of these families were previously included in a linkage study.
Summary. Patients with different types of cancer received treatment PO or I V with the new immunostimulating compound, 2-[2-cyanaziridinyl-(1)]-2-[2-carbamoylaziridinyl-(1)]-propane, B M 12.531 (Prop. I N N azimexon). After I V administration of 200 mg on 5 consecutive days or oral administration of 300 mg on 7 consecutive days a significant increase in the percentage of active T lymphocytes was seen. After in vitro incubation
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