Women's Health Weekly
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Breast Cancer Risk Factors
CHEK2 1100delC allele frequency is low in breast cancer families
April 28th, 2005
The frequency of the CHEK2 1100delC allele is low in Australian multiple-case breast cancer families. "A protein-truncating variant of CHEK2, 1100delC, is associated with a moderate increase in breast cancer risk. We have determined the prevalence of this allele in index cases from 300 Australian multiple-case breast cancer families, 95% of which had been found to be negative for mutations in BRCA1 and BRCA2. Only two (0.6%) index cases heterozygous for the CHEK2 mutation were identified. All available relatives in these two families were genotyped, but there was no evidence of co-segregation between the CHEK2 variant and breast cancer," scientists in Australia...
Source: Women's Health Weekly (2005-04-28)
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