Research Article
Impaired 8-Hydroxyguanine Repair Activity of MUTYH Variant p.Arg109Trp Found in a Japanese Patient with Early-Onset Colorectal Cancer
Table 2
Genotype and allele frequencies of the MUTYH and OGG1 nucleotide variations found in 34 Japanese patients with early-onset colorectal carcinoma.
| | Gene | Variant | Nucleotide | Genotype frequency | Allele frequency | | wt | vt | wt/wt | wt/vt | vt/vt | wt | vt |
| | MUTYH | c.36+11C>T | C | T | 32 (94.1%) | 2 (5.9%) | 0 (0%) | 66 (97.1%) | 2 (2.9%) | | MUTYH | c.55C>T
(p.Arg19*) | C | T | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | MUTYH | c.325C>T
(p.Arg109Trp) | C | T | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | MUTYH | c.504+35A>G | A | G | 25 (73.5%) | 9 (26.5%) | 0 (0%) | 59 (86.8%) | 9 (13.2%) | | MUTYH | c.934−2A>G | A | G | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | MUTYH | c.1014G>C
(p.Gln338His) | G | C | 15 (44.1%) | 15 (44.1%) | 4 (11.8%) | 45 (66.2%) | 23 (33.8%) | | MUTYH | c.1118C>T
(p.Ala373Val) | C | T | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | MUTYH | c.1431G>C
(p.Thr477Thr) | G | C | 32 (94.1%) | 2 (5.9%) | 0 (0%) | 66 (97.1%) | 2 (2.9%) | | MUTYH | c.1477−40C>G | C | G | 2 (5.9%) | 7 (20.6%) | 25 (73.5%) | 11 (16.2%) | 57 (83.8%) | | OGG1 | c.−23A>G | A | G | 32 (94.1%) | 2 (5.9%) | 0 (0%) | 66 (97.1%) | 2 (2.9%) | | OGG1 | c.−18G>T | G | T | 32 (94.1%) | 2 (5.9%) | 0 (0%) | 66 (97.1%) | 2 (2.9%) | | OGG1 | c.294G>A
(p.Lys98Lys) | G | A | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | OGG1 | c.748−15C>G | C | G | 13 (38.2%) | 14 (41.2%) | 7 (20.6%) | 40 (58.8%) | 28 (41.2%) | | OGG1 | c.949−89G>T | G | T | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | OGG1 | c.966C>T
(p.Asp322Asp) | C | T | 33 (97.1%) | 1 (2.9%) | 0 (0%) | 67 (98.5%) | 1 (1.5%) | | OGG1 | c.977C>G
(p.Ser326Cys) | C | G | 11 (32.4%) | 17 (50.0%) | 6 (17.6%) | 39 (57.4%) | 29 (42.6%) |
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wt: wild-type, vt: variant type.
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