rs198977

This exome array study of 776 Korean prostate cancer patients identified eight SNPs (rs77080351 OR 7.23, rs200944490 OR 5.24, rs2071292 OR 3.37, rs117237810 OR 4.86, rs191118242 OR 5.10, rs4965121 OR 2.44, rs61742396 OR 3.24, and rs6573513 OR 1.72) significantly associated with biochemical recurrence after radical prostatectomy. Adding genetic information to clinicopathological models increased predictive accuracy from 85.1% to 89.0% (P=0.025).

This candidate gene association study examined 218 postmenopausal women at high breast cancer risk, testing 79 SNPs in steroid metabolism, receptor, cell cycle control, DNA repair, and carcinogen metabolism genes for associations with abnormal breast tissue cytomorphology (RPFNA atypia) as a biomarker for HRT-related breast cancer risk. Key findings: RAD54 Gln929Glu (rs3088074, OR=1.74), TFR Gly142Ser (rs3817672, OR=1.98, p=0.0025), VEGF 3'UTR (rs3025039, OR=2.12), and ACE I/D (rs4646994, OR=0.55) were associated with RPFNA atypia. RAD23B Ala249Val (rs1805329) showed strongest association with worsening cytomorphology on HRT versus off HRT (p=0.0009) and ERCC1 3'UTR (rs3212986) was borderline significant (p=0.0015). Results suggest DNA repair gene polymorphisms may modify breast tissue response to exogenous estrogens.