No association between BRCA2 N372H and breast cancer risk.

Truncation mutations in the BRCA2 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. Recently, an intronic single-nucleotide polymorphism (G/A at bp 30,763,310) was also found associated with breast cancer risk (1). One nonsynonymous polymorphism, N372H, has been observed to moderately increase the risk of breast cancer in earlier studies (2, 3). We assessed the risk associated with these polymorphisms in the prospective Nurses’ Health Study cohort.