From: Simplifying the detection of MUTYH mutations by high resolution melting analysis
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 |