Basic Study
Copyright ©The Author(s) 2025.
World J Gastroenterol. Aug 7, 2025; 31(29): 104830
Published online Aug 7, 2025. doi: 10.3748/wjg.v31.i29.104830
Table 2 Pathogenic and likely pathogenic variants identified in the participants of study
Index case
Polyposis/tumor (age at diagnosis)
Gene
Transcript
cDNA change
Protein change
Revel
GnomAD AF
Classification1
1165Attenuated polyposis (53)/CRC (52)PCSK7NM_004716.3c.1054+1del-NPNRP
1488Attenuated polyposis (40)/endometrium hyperplasia (50)DKK4NM_014420.3c.108delp.(Lys37Argfs50)NPNRLP
NTHL1NM_002528.7c.244C>Tp.(Gln82)NP1.40e-03P
PIDD1NM_145886.3c.2042-2A>G-NP8.41e-05LP
1490Attenuated polyposis (52)ST7 LNM_017744.5c.540dupp.(Tyr181Ilefs3)NPNRLP
1536Breast (58)/attenuated polyposis (63)CD44NM_001001392.2c.250C>Tp.(Gln84)NPNRLP
TGNM_003235.5c.4588C>Tp.(Arg1530)0.3298.354e-05LP
1831Attenuated polyposis (36)HLTFNM_003071.3c.1160+2T>C-NP3.98E-06P
MUC16NM_024690.2c.14516delp.(Gly4839Valfs55)NP8.032e-06LP
2325Attenuated polyposis (59)/CRC (59)OBSCNNM_001271223.2c.3574C>Tp.(Gln119)NPNRLP
2448Attenuated polyposis (19)/CRC (19)PMS2NM_000535.7c.1882C>Tp.(Arg628)NP1.59E-05P
278Attenuated polyposis (55)/CRC (55)MUC16NM_024690.2c.14338_14341delp.(Thr4780 Leufs4)NP1.21E-05LP
TINF2NM_001099274.3c.1202dupp.(Asn401 Lysfs19)NPNRLP
454Classic polyposis (19)FRKNM_002031.3c.190C>Tp.(Arg64)NP1.591e-05LP
517Attenuated polyposis (56)PNKPNM_007254.4c.1541_1548dupp.(Gln517Cysfs)NPNRP
547Attenuated polyposis (51)/CRC (51)A1CFNM_014576.4c.826C>Tp.(Arg276)NP7.982e-06LP
907Attenuated polyposis (61)AHRRNM_001377236.1c.938C>Ap.(Ser313)NPNRLP