Researchers Identify Three New Genetic Variants Linked to Male Breast Cancer
Posted: Monday, November 9, 2020
The extent to which the genetic basis of male breast cancer differs from that of female breast cancer is unknown. A previous genome-wide association study of male breast cancer identified two predisposition loci for the disease, both of which were also linked to the risk of female breast cancer. To shed further light on these loci, a team of investigators, including Sarah Maguire, PhD, of Queen’s University Belfast and The Institute of Cancer Research, London, performed genome-wide single nucleotide polymorphism genotyping of European ancestry male breast cancer case subjects and controls.
The researchers centered their study on associations between directly genotyped and imputed single nucleotide polymorphisms with male breast cancer that were assessed using fixed-effects meta-analysis of 1,380 cases and 3,620 controls. They were able to identify three novel male breast cancer susceptibility loci that attained genome-wide significance. Genetic correlation analysis revealed a strong shared genetic basis with estrogen receptor–positive breast cancer in women. Of note, men in the top quintile of genetic risk had a fourfold increased risk of breast cancer relative to those in the bottom quintile.
What this article, published in the Journal of the National Cancer Institute, suggests is that the discovery of new locations in the genome linked to male breast cancer may now enable scientists to identify the biologic mechanisms that cause the disease to develop in men. And ultimately, this research might lead to the development of new preventive drugs for those at high risk.
The authors concluded: “These findings advance our understanding of the genetic basis of male breast cancer, providing support for an overlapping genetic etiology with female breast cancer and identifying a fourfold high-risk group of susceptible men.”
Disclosure: Full author disclosures are available at academic.oup.com.
