Population-based study of genetic alterations associated with interval breast cancer

Breast cancers diagnosed between two screening examinations (interval cancers; ICs) have worse clinicopathologic characteristics and poorer prognosis that screen-detected cancers (SDCs). A population-based genetic association study of 4121 patients with breast cancer and 5631 healthy controls found that protein-truncating variants in the 5 major genes for breast cancer (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were significantly associated with the occurrence of ICs. Women with a diagnosis of IC who were carrying variants in any of these 5 genes experienced lower breast cancer-specific survival rates compared with women with IC without such variants. The authors conclude that the results of the study suggest that SDCs and ICs possess distinct genetic profiles. These findings may provide insights into the identification of individuals at high risk of developing aggressive forms of breast cancer.