CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

In our material the CHEK2 1100delC carriers were markedly younger at diagnosis compared to non-carriers, even though the difference was of borderline significance in the two groups of breast cancer cases and the material small.

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The variant frequency was assessed in high-risk familial non BRCA1/2 cases and healthy controls, and both studies were highly significant despite the fact that the variant is rare (1% or less in normal population) and confers a relative risk of around 2 [ 7 , 8 ].

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