Figure 1

Pedigree of the homozygous TP53  p.R337H/p.R337H patient and TP53  Exon 10 sequencing results from the proband and parents. Dx: age at diagnosis; WT: wild-type (a) Pedigree of the homozygous TP53 p.R337H/p.R337H patient. Relatives affected by cancer are shown with blackened symbols; the arrow indicates the proband; current age is indicated in parenthesis. TP53 exon 10 sequencing results from the proband (b) demonstrating homozygosity for the A allele at genomic nucleotide number 16901 and from her parents (c, d) showing heterozygosity at the same nucleotide position.