| Gene |
Exon/Intron |
Nucleotide position |
Consequence of mutation |
Affected patients |
LOVD database |
| APC |
ex 15 |
c.3613delA
Heterozygous |
p.Ser1205fs |
2 FAP patients (males, sibs) |
Reported 1 time. The mutation is associated with FAP [56]. |
| APC |
ex 15 |
c.3949G>C
Heterozygous |
p.Glu1317Gln
rs1801166 |
1 (female, 1969, rectum cancer, Stage II T4NoMo) |
Reported 16 times. The mutation is significantly associated with FAP and CRC [42, 48, 49, 51, 52]. |
| APC |
ex 15 |
c.4479G>A |
p.Thr1493Thr, rs41115 |
2 heterozygous and
17 homozygous |
Reported 10 times. The mutation is associated with some cancers of digestive organs, including FAP [44-47]. |
| MLH1 |
i 15 |
c.1732-90C>A
Heterozygous |
|
15 |
No Reports |
| MLH1 |
ex 8 |
c. 655G>A, rs1799977
Heterozygous |
p. Ile219Val |
1 (female, 1969, rectum cancer, Stage II T4NoMo) |
Reported 251 times. The mutation is associated with Lynch syndrome [22], sporadic CRC[23-26], ulcerative colitis [27], lymphoblastic leukaemia [28], lung cancer [29],prostate cancer [30]. |
| MSH2 |
ex 7 |
c.1168C> T,
rs5028341
Heterozygous |
p.Leu390Phe |
1 (male, 1975, rectum cancer, Stage IV T4NxM+) |
Reported 39 times. The mutation is associated with early onset of CRC and gastric cancer [39, 40], Lynch syndrome[41]. |
| TP53 |
i 9 |
c.993+12T>C, rs1800899
Heterozygous |
|
1 (female, 1967, rectum cancer, Stage III T3NxMo) |
No Reports |
| TP53 |
i 4 |
c.376-19C>T
Heterozygous |
|
1 (female, 1983, rectum cancer, Stage III T4NxMo) |
No Reports |
|
