Breast cancer risks associated with missense variants in breast cancer susceptibility genes

HIGHLIGHTS

SUMMARY

Some missense variants have been shown to confer risk with risk estimates comparable to PTVs, and it is possible that missense variants contribute substantially to risk, at least in some genes. As an alternative approach, the authors fitted mixture models in which only a proportion of variants (α) was assumed to be risk associated in the given gene; the OR was assumed to be the same for all risk associated variants, but the proportion of risk associated variants varied by risk category (as defined in the LR models). After accounting for variants predicted to be . . .

 



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