For which non-BRCA pathogenic germline variants, if any, might you consider recommending chemoprevention with SERM/AI?

The breast cancer prevention trials enrolled women with a risk of developing breast cancer equivalent to a 60-year old woman with no other risk factors. That is not a HIGH risk. Chemoprevention has been dramatically underused in both the truly high risk (if pathogenic mutation carriers) as well as t...

Breast cancers associated with CHEK2 and ATM pathogenic variants are usually ER-positive and thus chemoprevention may be particularly valuable. However, a woman does not need a pathogenic variant for consideration of chemoprevention. Multiple risk models including BCRAT, IBIS, and CanRisk can be use...

Breast cancer is a heterogeneous disease, which may be stratified by tumor hormone receptor status. More recent genetic studies have examined germline pathogenic variants with respect to risk of estrogen receptor (ER)-positive or ER-negative breast cancers. For example, PALB2 is associated with incr...