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Table 2 Phenotypic characteristics and germlime mutations identified in biallelic MUTYH carriers.

From: Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Patient ID Onset age Number of adenomas CRC ED Family History (age at diagnosis) MUTYH Ref.
       1st Mutation 2nd mutation  
GAL-08 43 25–30 Yes No No c.494A>G (p.Tyr165Cys) c.494A>G (p.Tyr165Cys) [7]
GAL-21 52 <100 No No No c.494A>G (p.Tyr165Cys) c.1145 G>A (p.Gly382Asp) [7]
GAL-22 NA 40–60 No No Two siblings and mother: CRC (50s) c.494A>G (p.Tyr165Cys) c.1145 G>A (p.Gly382Asp) [7]
GAL-05 58 <100 Yes No NA c.494A>G (p.Tyr165Cys) c.1145 G>A (p.Gly382Asp) [7]
GAL-06 NA 40–100 No No Sister: AFAP (?) c.494A>G (p.Tyr165Cys) c.1145 G>A (p.Gly382Asp) [7]
GAL-20 45 <100 No No Two siblings: AFAP+CRC (?) c.1131 C>T (p.Gln377X) c.1145 G>A (p.Gly382Asp) [7, 21]
GAL-03 44 31–100 Yes No No c.1145 G>A (p.Gly382Asp) c.1145 G>A (p.Gly382Asp) [7]
GAL-23 62 >30 Yes No No c.1186_1187insGG p.Glu396GlyfsX43 c.1186_1187insGG p.Glu396GlyfsX43 [22]
CAT-15 44 5 Yes No Mother: BC(66) Brother:2 CRC (46) c.494A>G (p.Tyr165Cys) c.1103delC (p.Ala369AlafsX26) [7, 8]
CAT-14 38 15–30 No No Father: CRC (?) c.494A>G (p.Tyr165Cys) c.1145 G>A (p.Gly382Asp) [7]
CAT-17 60 >20 Yes No NA c.1145G>A (p.Gly382Asp) c.1145G>A (p.Gly382Asp) [7]
CAT-16 45 40–50 No No Father: CRC (40) c.1145G>A (p.Gly382Asp) c.1145G>A (p.Gly382Asp) [7]
CAT-18 45 70 Yes No No c.1186_1187insGG (p.Glu396GlyfsX43) c.1186_1187insGG (p.Glu396GlyfsX43) [22]
CAT-19 69 0 Yes BC (59) Cousin: CRC (40) c.1186_1187insGG p.Glu396GlyfsX43 c.1186_1187insGG p.Glu396GlyfsX43 [22]
  1. ED: Extracolonic disease; BC: Breast cancer; NA: not available.
  2. To allow comparison of our results, we used the MUTYH sequence used by previous authors (GenBank accession number: U63329) instead of the actual reference sequence (GenBank accession number: NM_012222), which has 11 additional codons in exon 3.