Low frequency of CHEK2 1100delC allele in Australian breast cancer families
Author Information
Author(s): Jekimovs C R, Chen X, Arnold J, Gatei M, Richard D J, Spurdle A B, Khanna K K, Chenevix-Trench G
Primary Institution: Queensland Institute of Medical Research
Hypothesis
The prevalence of the CHEK2 1100delC allele in Australian multiple-case breast cancer families is low.
Conclusion
Only two out of 300 index cases from multiple-case breast cancer families in Australia were found to carry the CHEK2 1100delC variant.
Supporting Evidence
- 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.
- Analyses suggest that the variant is likely to act by haploinsufficiency.
Takeaway
This study looked at families with multiple cases of breast cancer in Australia and found that a specific gene variant linked to breast cancer was very rare.
Methodology
The study involved genotyping index cases from multiple-case breast cancer families and analyzing the expression and activity of the CHEK2 gene.
Limitations
Only two families were identified with the CHEK2 1100delC variant, limiting the power to analyze its penetrance.
Participant Demographics
The study focused on Australian families with multiple cases of breast cancer.
Statistical Information
P-Value
0.0000001
Statistical Significance
p=0.0000001
Digital Object Identifier (DOI)
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