Figure 2

Representative family histories and sequencing data for three probands with identified mutations. (a) Patient 5,129: TP53 c.451C>A, p.P151T found by massively parallel sequencing and confirmed by Sanger sequencing. (b) Patient 1,723: TP53 c.733G>A, p.G245S found by massively parallel sequencing and confirmed by Sanger sequencing. (c) Patient 5,066: ATM c.8266A>T p.K2756X and CHEK2 c.444+1G>A found by massively parallel sequencing and confirmed by Sanger sequencing in both the proband and her brother (arrows).