DO: 1324;
Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:188,200,001-192,600,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 3q28 | {Lung cancer susceptibility 5} | 614210 | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of lung cancer, see 211980.
Hu et al. (2011) performed a genomewide association scan of 5,408 subjects (2,331 individuals with lung cancer and 3,077 controls) followed by a 2-stage validation among 12,722 subjects (6,313 cases and 6,409 controls). The combined analyses identified 6 well-replicated single-nucleotide polymorphisms (SNPs) with independent effects and significant lung cancer associations. One was rs4488809, located in the first intron of TP63 (603273) on chromosome 3q28 (p = 7.2 x 10(-26)). Miki et al. (2010) had identified rs4488809 in a Japanese genomewide association study of lung adenocarcinoma. Hu et al. (2011) confirmed the locus at 5p15.33 in the TERT-CLPTM1L region (LNCR3; 612571) characterized by rs465498 and rs2736100 (p = 1.2 x 10(-20) and p = 1.0 x 10(-27), respectively).
Hu, Z., Wu, C., Shi, Y., Guo, H., Zhao, X., Yin, Z., Yang, L., Dai, J., Hu, L., Tan, W., Li, Z., Deng, Q., and 33 others. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nature Genet. 43: 792-796, 2011. [PubMed: 21725308] [Full Text: https://doi.org/10.1038/ng.875]
Miki, D., Kubo, M., Takahashi, A., Yoon, K.-A., Kim, J., Lee, G. K., Zo, J. I., Lee, J. S., Hosono, N., Morizono, T., Tsunoda, T., Kamatani, N., Chayama, K., Takashi, T., Inazawa, J., Nakamura, Y., Daigo, Y. Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. Nature Genet. 42: 893-896, 2010. [PubMed: 20871597] [Full Text: https://doi.org/10.1038/ng.667]