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. 2016 Dec 28;22(48):10680–10686. doi: 10.3748/wjg.v22.i48.10680

Figure 1.

Figure 1

Genetic data of targeted alterations. A: Patient 1 presented a T>C variation in the CHEK2 gene inducing a constitutive deleterious R117G mutation (left panel). At the chromosomal level, it appeared that chromosome 22 harbored a loss of heterozygosity inducing (right panel) a complete inactivation of CHEK2; B: Patient 2 presented a A>G variation in the RAD51C gene inducing a somatic loss of function T287A mutation (left panel). At the chromosomal level, it appeared that chromosome 17 harbored an important loss of heterozygosity at the RAD51C locus inducing a complete inactivation of RAD51C; C: Patient 2 also harbored an AG insertion resulting in a frameshift truncating mutation in the TP53BP1 gene.