Activating mutation in MET oncogene in familial colorectal cancer

BMC Cancer

Table 1 Allelic frequencies of germline variants in MET coding sequence for CRC sibling pair cohort and those reported in dbSNP

Exon	SNP*	Change*	# samples	CRC sibling frequencies	dbSNP allele frequencies
2	rs11762213	synonymous	160	89% GG, 11% GA	89% GG 11% GA
2	c.577C > T	synonymous	169	99% CC, 1% CT	Not reported
2	c.593G > A	V136I	169	99.4%GG 0.6%GT	Not reported
2	rs35775721	synonymous	165	88% CC 12%CT	97% CC 3% CT
2	rs55985569	E168D	165	99.4%GG 0.6%GT	99.5%GG 0.5% GT^#
2	rs35776110	A320V	169	100% CC	97% CC 3% CT
2	rs77523018	M362T	169	98% TT 2% CT	98% TT 2% CT
2	rs33917957	N375S	169	100% AA	97% AA 3% AG
7	rs13223756	synonymous	161	75% AA 25% AG	67% AA 33%AG
14	rs56391007	T992I	163	95.7%CC 4.3%CT	99.3% CC 0.7%CT^#
20	rs41736	synonymous	152	28% CC 54% GA 18%TT	37% CC 45% GA 18% TT
21	rs2023748	synonymous	157	26% GG 54% GA 20%AA	37% GG 45% GA 18% AA
21	rs41737	synonymous	157	26% GG 54% GA 20%AA	37% GG 45% GA 18% AA

*for variants without a SNP identification number in dbSNP, the nucleotide change is noted with reference to NM_000245.2 with nucleotide 1 referring to A of the AUG initiation codon and amino acid change is noted with reference to NP_000236.2. ^# Minor allele frequency from 1000 Genomes in dbSNP, no frequency data available under population diversity.

ISSN: 1471-2407