Alternative titles; symbols
Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:66,600,001-70,800,000
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
16q22.1 | {Colorectal cancer, susceptibility to, 9} | 612590 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.
In a metaanalysis of 2 previously published genomewide association (GWA) studies (Tomlinson et al., 2008; Tenesa et al., 2008) comprising 13,315 individuals, Houlston et al. (2008) found an association between susceptibility to colorectal cancer and rs9929218 on chromosome 16q22.1 within intron 1 of the CDH1 gene (192090) (p = 1.4 x 10(-6)). Pooling data from 8 independent case-control series comprising 27,418 individuals with the GWA series yielded a combined p value of 1.2 x 10(-8) for rs9929218. A second SNP in the CDH1 gene, rs1862748, also showed significant association with colorectal cancer (combined p value = 2.9 x 10(-8)).
Houlston, R. S., Webb, E., Broderick, P., Pittman, A. M., Di Bernardo, M. C., Lubbe, S., Chandler, I., Vijayakrishnan, J., Sullivan, K., Penegar, S., Colorectal Cancer Association Study Consortium, Carvajal-Carmona, L., and 41 others. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nature Genet. 40: 1426-1435, 2008. [PubMed: 19011631] [Full Text: https://doi.org/10.1038/ng.262]
Tenesa, A., Farrington, S. M., Prendergast, J. G. D., Porteous, M. E., Walker, M., Haq, N., Barnetson, R. A., Theodoratou, E., Cetnarskyj, R., Cartwright, N., Semple, C., Clark, A. J., and 45 others. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nature Genet. 40: 631-637, 2008. [PubMed: 18372901] [Full Text: https://doi.org/10.1038/ng.133]
Tomlinson, I. P. M., Webb, E., Carvajal-Carmona, L., Broderick, P., Howarth, K., Pittman, A. M., Spain, S., Lubbe, S., Walther, A., Sullivan, K., Jaeger, E., Fielding, S., and 65 others. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nature Genet. 40: 623-630, 2008. [PubMed: 18372905] [Full Text: https://doi.org/10.1038/ng.111]