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Table 1 Percentage of missense mutation variants identified in the Human Genome Database (to May 2005) [7]

From: Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them?

Disease/mutation

Frequency of missense Mutation Variations

Breast Cancer

15.1% BRCA1 (99)

 

13.9% BRCA2 (62)

FAP

3.1% APC (19)

HNPCC

27.4% hMLH1 (102)

 

24.6% hMSH2 (75)

 

32.9% hMSH6 (23)

PJS

19.7% LKB1/STK11 (23)

TOTAL

403 missense variations