Table 5 Phenotypic and genotypic features in the 7 patients carriers of biallelic MUTYH germline mutations
From: Simplifying the detection of MUTYH mutations by high resolution melting analysis
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 |