Table 1.

Germline mutations in colorectal familial syndromes.

Syndrome	Involved Gene(s)	Affected Process	Actively Affecting DNA Integrity ?	References
Familial adenomatous polyposis (FAP)	APC	APC/β-catenin/Wnt pathway	Yes, chromosomal instability, aneuploidy	[13, 14, 20]
MYH-associated polyposis (MAP)	MYH	Base excision repair	Yes, chromosomal instability, aneuploidy	[13, 21–23]
Human non-polyposis colon cancer (HNPCC)	MSH2, MLH1, PMS1, PMS2, MSH6, TGFBR2, MLH3	Mismatch repair	Yes, microsatellite instability, increased mutation rate	[15, 24, 25]
Oligodontia-colorectal cancer syndrome	AXIN2	APC/β-catenin/Wnt pathway	Not described	[14, 20, 26]
Familial Finnish colorectal cancer predisposition	CHEK2	Cell cycle checkpoint	Yes, DNA integrity maintenance	[27, 28]
Peutz - Jeghers syndrome	STK11	Wnt pathway, cell cycle	Not described	[29–33]