PMC4792865_01
Biallelic MUTYH mutation and likely pathogenic deletion in MSH2. (A) Integrative Genomics Viewer images of next generation sequencing data of homozygous c.1187G>A (p.Gly396Asp) sequence variant with reference MUTYH nucleotide and amino acid nomenclature indicated. (B) Array CGH image. Red dots indicate the relevant clinical sample's log2 ratio confirming duplication of exon 7 in MSH2. Gray dots indicate the log2 ratios for seven other control samples. The green line indicates the segmentation by the DNA copy R package.
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F1
The proband was found to carry a homozygous pathogenic variant, c.1187G>A (p.Gly396Asp) in MUTYH, and a likely pathogenic duplication of exon 7 in MSH2 (Figure 1).
Family history as reported by proband and his mother.
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F2
She reported a family history of colorectal cancer in her maternal grandmother at an unknown age, her maternal aunt at the age of 50 and a maternal first cousin at the age of 53; all of this was unknown at the time of the proband's initial genetic counseling appointment (Figure 2).