| 摘要 |
A method, system and processing system for assessing a risk of an individual developing a breast cancer phenotype. The method (300) includes determining, in a biological sample from a human subject, an absence of an identified pathogenic mutation to the BRCA-1 and BRCA-2 genes (310). In response to a successful determination, the method (300) includes determining in the biological sample a presence or absence of risk alleles of common allelic variants associated with a breast cancer phenotype at a plurality of independent loci (320). A polygenic risk score for the human subject can then be calculated based upon the presence or absence of the risk alleles and using case data indicative of women who developed breast cancer (330) which did not carry the pathogenic mutation to the BRCA-1 and BRCA-2 genes. A high polygenic risk score indicates a higher risk for developing a breast cancer phenotype. |
