Table 5.

Phenotypic and genotypic features in the 7 patients carriers of biallelic MUTYH germline mutations

	Patients with biallelic germline mutations	Number of adenomas (≥10) synchronous or metachronous	CRC	Family history	Polymorphism G338H
Patient 1	Y179C (exon 7) homozygous	Polyps synchronous Age 58	No	No	No
Patient 2	V22M (exon 2) E410GfsX43 (exon 13) double heterozygote	Polyps synchronous Age 42	No	Yes	No
Patient 3	R426C (exon 13) E410GfsX43 (exon 13) double heterozygote	Polyps synchronous	Yes Age diagnosis Astler-Coller A	Yes 50	No
Patient 4	R426C (exon 13) R354GfsX40 (exon 12) double heterozygote	Polyps metachronous Age 67	No	No	Yes
Patient 5	Y179C (exon 7) E410GfsX43 (exon 13) double heterozygote	Polyps synchronous	Yes Age diagnosis Astler-Coller B1	No 63	No
Patient 6	G396D (exon 13) V232F (exon 9) double heterozygote	Polyps synchronous Age 82	No	No	No
Patient 7	G396D (exon 13) homozygous	Polyps synchronous Age 58	No	No	No