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
Table 2: DNA sequencing results in early CRC onset patients.