Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

However, as 1100delC genotyping has already been reported for most of the Breast CFR participants included in this study [ 50 , 51 ], we note that the combination of the other six protein-truncating variants was marginally significant by itself ( P = 0.033), but since none of this set of controls were found to carry such a variant, we could not estimate the OR.

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