Incremental Impact of Breast Cancer SNP Panel on Risk Classification and Screening 5 31 11
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![Abstract Results Conclusions Background: Accurate breast cancer risk prediction could improve the performance of breast cancer screening. Given the association of each single nucleotide polymorphisms (SNPs) with breast cancer, conferring a relatively small increase in risk, the current study examines the relative risk of multiplicative alleles. Methods: Using a prospective cohort study, standard risk information and buccal swab specimen are being collected at the point of screening mammography. A 12 SNP panel was performed by deCODE Genetics. Minor allele frequencies were compared to reported frequencies and the total genetic risk ratio was calculated using reported risk ratios assuming independence. 5 year and lifetime risks incorporating SNPs were calculated by multiplying estimated Gail risk by genotype risk ratio. Concordance between the Gail model and the Gail + SNP model in identifying high risk women (5 year risk > 1.7, lifetime risk > 20) was measured using the kappa statistic. Results: SNP results were available for 783 women (39% B, 55% W). Mean genetic risk ratios were 1.096 in W and 1.293 in B women. High risk allele frequencies for W women were the same as previously reported for 9 SNPs and higher than previously reported for 3 SNPs. For B women, high risk allele frequencies were higher in 7 SNPs, lower in 4 SNPs, and the same for 1 SNP. There was relatively low agreement between the Gail model and Gail +SNP model (kappa of 0.55 for 5-year risk and 0.38 for lifetime risk). Addition of SNP information had the greatest effect among B women, with 12% of B women identified as 5 year high risk by Gail alone, but 31% by Gail +SNPs, and 0.33% of B women identified as lifetime high risk by Gail alone but 5.90% by Gail + SNPs. Conclusions: The addition of SNP information to traditional breast cancer risk prediction models reclassifies the high risk status of some women undergoing screening mammography, particularly among B women. Further research is needed to determine the clinical validity and utility of this reclassification in breast cancer risk prediction, screening and prevention. ,[object Object]](https://image.slidesharecdn.com/armstrongkatrinasnp53111-110601125543-phpapp01/85/Incremental-Impact-of-Breast-Cancer-SNP-Panel-on-Risk-Classification-and-Screening-5-31-11-1-320.jpg)
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Incremental Impact of Breast Cancer SNP Panel on Risk Classification and Screening 5 31 11
- 2. Particularly for black women
- 3. In black women, for 11 of the 12 SNPs, allelic frequencies were significantly different than in prior studies
- 5. Family and health history and buccal swab specimen collected at screening mammography
- 6. Sample sent to deCODE for 12 SNP panel
- 7. Allele frequencies compared to published frequencies using a one-sample t-test
- 8. The relationship between risk and race tested using Pearson's Chi-square test
- 10. Current models are limited, particularly among minorities.
- 11. Multiple single nucleotide polymorphisms associated with breast cancer have been validated in multiple studies.
- 12. While each SNP confers a relatively small increase in risk, a multiplicative allelic risk model generates relative risk estimates ranging from 0.45 to 3.77, which appear independent of other risk factors.Table 2. Risk Estimates for both Gail and SNP