Genetic and epigenetic biomarkers for diagnosis, prognosis and treatment of colorectal cancer

Table 1 Examples of genetic biomarkers for colorectal cancer

Biomarkers		Ref.
Genetic biomarkers	Prognosis
Breakpoints of 17p11.2	Found in primary colonic tumours in CRC patients with liver metastasis	[22]
Loss of 18q	Poor prognosis	[23,24]
Loss of SMAD	Advanced stage disease (III), lymph node metastases, shorter overall survival	[26]
APC mutations	Poorer overall survival	[39]
KRAS mutations	Heterogeneous phenotype of CRC	[43,44,45]
BRAF mutations	Specific phenotype and metastasis	[61,62]
PIK3CA mutations	Poor prognosis and specific clinicopathological features	[64]
Loss of PTEN	High rate of distant metastasis	[68]
TP53 expression	Worse prognosis	[70,71]
Loss of NDST4	Adverse prognosis	[72]
Candidate biomarkers	Chemoresistance/Chemosensitivity
Loss of SMAD4	Poorer response to 5-FU	[28]
MSI	Resistance to 5-FU	[83]
KRAS, BRAF, PI3KCA, PTEN mutations	Resistance to anti-EGFR mAb	[46-52,74,75,79-81]

CRC: Colorectal cancer; mAb: Monoclonal antibodies; 5-FU: 5-fluorouracil.