Figure 1. Pedigree of the family carrying PTPRTD1364Gfs*24.
(A) Pedigree of Amsterdam II family cc765, where PTPRT c.4090dup p.(Asp1364GlyfsTer24), was identified. Whole-exome sequencing was done in family members II:5, II:6 and II:7 (in a grey box), and the cosegregation analyzed in II:2, II:3, II:4 and III:5. Four individuals were carriers (+), while three were non-carriers (WT). Cancer-affected members are marked with a black corner; bottom right: CRC, top right: endometrial cancer (EC), bottom left: breast cancer (BC). The age at diagnosis or current age of healthy members is included beneath each individual (in years). B) Electropherogram of the wild-type and mutant sequence of the PTPRT gene. The arrows show the point where the guanine is inserted.