Fig 1.
Pedigrees of patients carrying truncating/deleterious mutations in the known PrCa risk genes ATM and CHEK2.
(A) Patient HPC177 harboring the ATM stop mutation c.652C>T. (B) Patient HPC395 harboring the CHEK2 splicing mutation c.593-1G>T. Electropherograms of the Sanger sequencing validations are shown.
Table 1.
Truncating/Deleterious mutations found in the 121 cases by targeted NGS panel.
Fig 2.
Pedigrees of patients carrying truncating/deleterious mutations in new candidate PrCa risk genes involved in Fanconi anemia.
(A) Patient HPC186 harboring the RAD51C frameshift mutation c.890_899del. (B) Patient HPC447 harboring the FANCD2 splicing mutation c.2494+2T>C. (C) Patient HPC150 harboring the FANCI frameshift mutation c.206del. Electropherograms of the Sanger sequencing validations are shown.
Fig 3.
Pedigrees of patients harboring truncating/deleterious mutations in new candidate PrCa risk genes involved in other recessive disorders.
(A) Patient HPC421 harboring the CEP57 nonsense mutation c.791C>G. (B) Patient HPC455 harboring the RECQL4 frameshift mutation c.2636del. Electropherograms of the Sanger sequencing validations are shown.
Table 2.
“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.