Table 2.
Genes with three or more private heterozygous PTVs in unrelated FPC patients
Gene | Number of heterozygous PTVs in FPC kindred | Comment |
---|---|---|
ATM | 19 | FPC susceptibility gene; Cancer driver gene; DNA repair gene |
TET2 | 9 | Cancer driver gene |
DNMT3A | 7 | Cancer driver gene |
POLN | 6 | DNA repair gene |
POLQ | 6 | DNA repair gene |
ASXL1 | 5 | Cancer driver gene |
BRCA2 | 5 | Cancer driver gene; DNA repair gene |
PALB2 | 5 | FPC susceptibility gene; DNA repair gene |
CDKN2A | 4 | FPC susceptibility gene; Cancer driver gene; DNA repair gene |
FANCG | 4 | DNA repair gene |
BUB1B | 3 | DNA repair gene |
ESCO2 | 3 | DNA repair gene |
FANCC | 3 | DNA repair gene |
FANCM | 3 | DNA repair gene |
MSH4 | 3 | DNA repair gene |
RAD54L | 3 | DNA repair gene |