Table 6.

Phenotypic and genotypic features in the 6 patients carriers of monoallelic MUTYH germline mutations

	Patients with monollelic germline mutations	Number of adenomas (≥ 10) synchronous or metachronous	CRC	Family history	Polymorphism G338H
Patient 1	Y179C (exon 7) heterozygote	Polyps synchronous Age 43	No	Yes	No
Patient 2	G396D (exon 13) heterozygote	Polyps metachronous Age 42	Yes Age diagnosis Astler-Coller A	Yes 40	No
Patient 3	R426C (exon 13) heterozygote	Polyps synchronous Age 74	No	No	No
Patient 4	G396D (exon 13) heterozygote (MUTYH and APC genes are mutated) In APC gene L126S heterozygous	Polyps synchronous Age 51	No	Yes	Yes
Patient 5	G396D (exon 13) heterozygote	Polyps metachronous Age 70	No	Yes	No
Patient 6	E410GfsX43 (exon 13) heterozygote	Polyps metachronous Age 39	No	Yes	No