Next-generation sequencing for genetic testing of familial colorectal cancer syndromes

Table 2 Mutation detection with Next-Generation and Sanger sequencing

GENE	Coding region in bp	COSMIC mutations^a	N. Sanger needed		Next-Generation Sequencing
GENE	Coding region in bp	COSMIC mutations^a	N. Sanger needed	Solved	Solved by IGV^b	Sensi tivity	Blind Spots^c	N. Sanger to solve blind spots
APC	8538	1670	55	1607	12	96.9 %	51	11
MUTYH	1854	40	16	29	1	75.0 %	10	2
MHL1	2524	163	39	144	4	90.8 %	15	6
MSH2	11,227	152	30	144	3	96.7 %	5	4
MSH6	4080	200	36	184	7	95.5 %	9	4
Total	28,223	2225	176	2108	27	96.0 %	90	27

^a Mutations listed in COSMIC database (http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/)
^b Integrative Genomics Viewer (IGV v.2.1, Broad Institute) software
^c Mutations within homopolymer stretches or artifact-prone regions of the genes

ISSN: 1897-4287