They analyzed germline and tumor genotype of numerous SNPs, including the rs1058808 and HER2 expression by IHC and found a significantly higher proportion of HER2 positive tumors in the proline carriers (either C/G or C/C), compared to the alanine carriers (G/G genotype) (56% vs. 43%, respectively, p=0.015) (17). The gene discussed is ERBB2; the disease is neoplasm.