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While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in  HMMR  (gene product RHAMM) may be associated with risk of breast cancer in  BRCA1  mutation carriers. Following on these observations, we further assessed the link between the  AURKA-HMMR-TPX2-TUBG1  functional module and risk of breast cancer in  BRCA1  or  BRCA2  mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252  BRCA1  and 8,211  BRCA2  mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of  HMMR  rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 – 1.15, p = 1.9 x 10 −4  (false discovery rate (FDR)-adjusted p = 0.043). Variation in  CSTF1 , located next to  AURKA , was also found to be associated with breast cancer risk in  BRCA2  mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 – 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p interaction  values > 0.05) for deviations from the multiplicative model for rs299290 and  CSTF1  rs6064391, and rs299290 and  TUBG1  rs11649877 in both  BRCA1  and  BRCA2  mutation carriers. Following these suggestions, the expression of  HMMR  and  AURKA  or  TUBG1  in sporadic breast tumors was found to potentially interact, influencing patients’ survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in  BRCA1/2  mutation carriers.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers