Genome-Wide Testing of Exonic Variants and Breast Cancer Risk in the California Teachers Study.

Few studies have focused on the relationship of exonic variation with breast cancer and subtypes defined by tumor markers: estrogen receptor (ER), progesterone receptor (PR), and HER2. We genotyped 1,764 breast cancer patients and 1,400 controls from the California Teachers Study cohort using the Infinium HumanExome Beadchip. Individual variant and gene-based analyses were conducted for overall breast cancer and by individual tumor marker subtype. No exonic variants or gene-based analyses were statistically significantly associated with breast cancer overall or by ER-, PR-, or HER2-defined subtype. We did not detect any novel statistically significant exonic variants with overall breast cancer risk or by subtype. Exonic variants in the exome chip may not be associated with overall breast cancer or subtype susceptibility. .