Alternative titles; symbols
Cytogenetic location: 14q22.2 Genomic coordinates (GRCh38): 14:53,600,001-55,000,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 14q22.2 | {Colorectal cancer, susceptibility to, 8} | 612589 | 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 rs4444235 on chromosome 14q22.2 within the BMP4 gene (112262) (p = 1.8 x 10(-6)). Pooling data from 4 independent case-control series comprising 13,408 individuals with the GWA series yielded a combined p value of 8.1 x 10(-10) for rs4444235.
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]