Expanding the genetic landscape of colorectal polyposis: Progress and challenges

Table 1 Comparative diagnostic yields and pathway findings across ethnic cohorts in colorectal polyposis

Ref.	Country	Sample size (n)	Diagnostic yield (% with P/LP variants)	Major mutations identified	Key pathway findings
Dos Santos et al[1]	Brazil	27	44.4	ST7L, A1CF, DKK4, NTHL1, PNKP, PMS2, FRK	Wnt/β-catenin dysregulation; oligogenicity
Yang et al[20]	China	120	74.2	APC, MUTYH, POLE, POLD1, PTEN, MLH3, SMAD4	Structural variants, APC promoter mutations
Mak et al[8]	United Kingdom	259	25.5	APC, biallelic MUTYH, POLD1, GREM1, MLH1, MSH2	DNA repair, base excision repair

P/LP: Pathogenic/Likely pathogenic.