Catenin Family Genes Are Not Commonly Mutated in Hereditary Diffuse Gastric Cancer.
| Authors | Schuetz JM, Leach S, Kaurah P, Jeyes J, Butterfield Y, Huntsman D & Brooks-Wilson AR. |
|---|---|
| Abstract | BACKGROUND: Approximately one third of the hereditary diffuse gastric cancer (HDGC) families carry germline mutations in the E-cadherin gene (CDH1). Risk prediction in members of families with this rare but deadly cancer could be improved by the identification of additional HDGC genes in non-CDH1 families.METHODS: Affected individuals from 22 CDH1 mutation-negative families were screened for germline mutations in four catenin genes: CTNNA1, CTNNB1, JUP, and CTNND1. Catenins interact closely with E-cadherin molecules in cells, and are therefore logical candidate genes for mutation screening in HDGC families.RESULTS: No nonsynonymous variants were seen in CTNNA1, CTNNB1, or CTNND1; only JUP contained nonsynonymous variants, of which only two rare variants were predicted to be deleterious.CONCLUSION: Catenin genes are not commonly mutated in non-CDH1 HDGC families.Impact: Germline mutations in CTNNA1, CTNNB1, JUP, or CTNND1 are unlikely to play a major role in HDGC. Cancer Epidemiol Biomarkers Prev; 1-3. ©2012 AACR. |
| Journal Name and Citation | Cancer Epidemiol Biomarkers Prev. 2012 Nov 15. [Epub ahead of print] |
| Date of Publication | 2012/11/15 |
| Publication Link | http://cebp.aacrjournals.org/content/early/2012/11/14/1055-9965.EPI-12-1110.long |