Table 1 Overview of AXIN2 mutations in CRC and polyposis with/without hypo- and oligodontia
From: A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
Protein | Genomic change | Location | Individual | Sex | Age (years) | Polyps/CRC (age) | Hypo-/oligodontia | Number of missing elements | Ectodermal dysplasia | Reference | |
|---|---|---|---|---|---|---|---|---|---|---|---|
Missense | p.R463C | c.1387C > T | Exon 6 | II-1 | M | 51 | CRC (51) | - | - | - | [10] |
III-1 | M | 42 | 10 polyps, CRC (42) | - | - | - | |||||
III-2 | F | 36 | 30 polyps, CRC (36) | - | - | - | |||||
III-5 | F | 43 | - | - | - | - | |||||
Nonsense | p.R656* | c.1966C > T | Exon 8 | II-2 | M | 54 | CRC | + | 26 | - | [7] |
II-4 | M | 62 | 4 polyps | + | 29 | - | |||||
II-7 | F | 57 | 68 polyps, CRC | + | 11 | Peg-shaped incisors | |||||
II-8 | M | 58 | 1 polyp | + | 29 | - | |||||
III-2 | F | 35 | 1 polyp | + | 16 | - | |||||
III-4 | M | 31 | 3 polyps | + | 13 | - | |||||
III-5 | F | 27 | 1 polyp | + | 21 | - | |||||
III-7 | M | 35 | ~ 23 polyps | + | 8 | Peg-shaped incisors | |||||
III-8 | F | 26 | - | + | 24 | - | |||||
IV-1 | M | NR | NR | + | 17 | - | |||||
IV-2 | F | NR | NR | + | 16 | - | |||||
p.W663* | c.1989G > A | Exon 8 | II-1 | F | 68 | ≥ 5 polyps, CRC (50/59) | + | NR | + | [8] | |
II-2 | F | 65 | - | + | NR | + | |||||
II-3 | F | 63 | - | + | NR | + | |||||
III-3 | F | 35 | - | + | > 10 | + | |||||
p.Q681* | c.2041C > T | Exon 8 | F | > 20 adenomas and CRC (58), ovarian cancer (67) | NR | NR | NR | [13] | |||
p.P350Lfs*13 | c.1049delC | Exon 4 | II-1 | F | 59 | CRC | - | - | - | [17] | |
II-2 | M | 48 | - | - | - | - | |||||
III-1 | F | 55 | 58 polyps | - | - | - | |||||
III-2 | F | 59 | 5, CRC (74) | - | - | - | |||||
III-4 | F | 49 | 42 polyps | - | |||||||
IV-1 | F | NR | Multiple, no details | - | - | - | |||||
IV-2 | F | 46 | 19 polyps | - | - | - | |||||
Insertion/ deletion | p.L85Yfs*24 | c.254dela | Exon 2 | F | 79 | CRC (79) | - | - | - | [14] | |
p.L608Ffs*81 | c.1822del | Exon 7 | F | 49 | 1 stomach polyp, 1 colorectal polyp, 1 neuroblastoma | + | 4 | - | [11] | ||
p.S658A*31 | c.1972delA | Exon 8 | I-1 | F | 67 | > 100 polyps | + | 22 | - | [9] | |
II-3 | F | 43 | 5 polyps, CRC | + | NR | - | |||||
II-4 | M | 40 | > 43 polyps | + | 10 | - | |||||
p.W663Lfs*44 | c.1987dup | Exon 8 | 65 | NR | CRC (65) | Abnormal dentition | NR | NR | [15] | ||
p.N666Qfs*41 | c.1994dupGb | Exon 8 | 65 | M | 57 polyps | + | 25 | - | [12] | ||
M | 13 | NA | + | 13 | - | [7] | |||||
II-2 | F | 52 | CRC (51) | + | NR | [16] | |||||
II-4 | F | 77 | CRC (77) | + | NR | ||||||
III-3 | M | 58 | 34 polyps | + | 3 | Mild ectodermal dysplasia | |||||
III-5 | M | 56 | CRC (56) | + | 5 | ||||||
III-9 | M | 57 | NR | + | 11 | - | |||||
III-13 | M | 52 | 2 polyps | + | 5 | Brittle hair | |||||
IV-5 | F | 26 | + | 1 | |||||||
IV-8 | M | 27 | ( +) | 1 | |||||||
IV-4 | M | 58 | 41 polyps | + | 6 | - | [17] | ||||
IV-8 | M | 37 | 5 polyps | + | 1 | - | |||||
p.R671Pfs*36 | c.2011dupG | Exon 8 | II-1 | M | 44 | 12 polyps | + | 4 | - | Current study | |
Alternative splicing | r.[= , 2285_2405del] p.(E763Ifs*42) | c.2405G > C | Exon 10 | M | 60 | 30 polyps | - | - | - | [17] | |