Assessment of mismatch repair gene sequence variants for clinical relevance

错配修复基因的突变导致家族性癌症。许多家族携带的序列变化不会明显改变基因产物，很难预测这些变异是否是该家族癌症的直接原因。因此，不可能向这些家庭提供信息丰富的遗传咨询。我们的目标是评估几个基于网络的程序的价值，并提供额外的信息，以预测一组变量确定的功能变化。

Mutations in mismatch repair genes cause familial cancer. A number of families carry sequence changes that do not obviously alter the gene product, and it is difficult to predict whether these variants are the direct cause of cancer in the family. Consequently, it is not possible to offer informative genetic counselling to these families. We aim to assess the value of several web-based programs, with additional information, to predict the functional changes determined for a panel of variants.