Re: Population-Based, Case-Control Study of HER2 Genetic Polymorphism and Breast Cancer Risk

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Abstract
Alleles. The homozygous Val/Val geno- type associated with an increased risk of breast cancer was observed more fre- quently in Caucasian subjects (5.4%) and African-American subjects (4.4%) than in Chinese subjects (0.3%) (P .01) (Table 1). The HER2 allele fre- quency was not significantly different between African-American and Cauca- sian subjects (P.49). The genotype frequency was not statistically signifi- cantly different from that expected from the Hardy-Weinberg equilibrium in any population. The results help interpret the impli- cations of HER2 SNP for disease risk and treatment response in different eth- nic groups. The data suggest that this SNP has variable frequency in different ethnic groups. In addition, intraracial differences in allele frequency were seen. The presence of the Val allele in the African-American population, but not in the African population, is consis- tent with the genetic mixing, which has been identified through historical and molecular analysis. However, the pres- ence of many first-generation immigrant populations in the United States pro- vides warning for the overinterpretation of results from any one ethnic group. Therefore, the usefulness of the HER2 SNP in the determination of risk, prog- nosis, and treatment response of breast cancer will be dramatically different be- tween ethnic populations.

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