Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes

open access

 Table 1 shows the published risk estimates for specific genes and/or variants within genes. Using the strategy described, this risk is converted to a cumulative risk to age 70 years for carriers living in the USA and other countries with similar population incidences.

Discussion

Establishing penetrance is a difficult proposition, even for extensively studied genes, like BRCA1 and BRCA2, in which no two studies have ever yielded the same results......