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

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