Roel Bogie

Chapter 10

TP53 mutation APC mutation 1.3%

16.3% 0.0% 11.3%

62.0% 66.1% 35.4%

49.0% 44.6% 31.9%

62.0% 67.9% 46.5%

2.0% 56.4% 2.7%

100% 60.7% 7.9%

Loss of 18q Gain of 13q 7.5%

2.5%

5.0% 3.8%

2.5%

2.5% 10.0%

5.0%

27.5%

2.5%

2.5%

2.5%

Gain of 13q 19.1% Branch 1: Hypermethylation pathway Branch 2: MSI pathway Branch 3: CIN pathway CIMP 44.7% 0.0% 19.1% CIMP 25.5% BRAF 27.7% 8.5% 14.9% 4.3% MSI

Chromosomal instability in most cases, with most frequent gain of 13q and/or loss of 18q, and APC gene mutations in >50%

Figure 10.3 B): Overview of hallmark features of each branch from clustering analysis. | Red: PCCRC, green: DCRC, yellow: proximal location, dark blue: distal location, light blue: non-polypoid, purple: polypoid, orange: MSI / high CIMP present, blue: MSI / high CIMP absent.

Main feature Microsatellite instability in more than half of cases, often in combination with CIMP and or BRAF mutation CpG Island Methylator phenotype in all cases, often in combination with gain of 13q and/or loss of 18q chromosome arm

25.5%

Loss of 18q

10.6%

PCCRC rate

Prox. location

Non-polypoid MSI

CIMP

Coexistence of

most prevalent molecular features

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