ABCB2 p.Ala465Val
| Predicted by SNAP2: | C: D (59%), D: D (59%), E: D (71%), F: D (75%), G: N (72%), H: D (71%), I: D (63%), K: D (71%), L: D (71%), M: D (53%), N: D (66%), P: D (80%), Q: D (59%), R: D (71%), S: N (72%), T: D (53%), V: D (63%), W: D (75%), Y: D (75%), |
| Predicted by PROVEAN: | C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, T: D, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] JAK1 truncating mutations in gynecologic cancer de... Sci Rep. 2013 Oct 24;3:3042. doi: 10.1038/srep03042. Ren Y, Zhang Y, Liu RZ, Fenstermacher DA, Wright KL, Teer JK, Wu J
JAK1 truncating mutations in gynecologic cancer define new role of cancer-associated protein tyrosine kinase aberrations.
Sci Rep. 2013 Oct 24;3:3042. doi: 10.1038/srep03042., [PMID:24154688]
Abstract [show]
Cancer-associated protein tyrosine kinase (PTK) mutations usually are gain-of-function (GOF) mutations that drive tumor growth and metastasis. We have found 50 JAK1 truncating mutations in 36 of 635 gynecologic tumors in the Total Cancer Care(R) (TCC(R)) tumor bank. Among cancer cell lines containing JAK1 truncating mutations in the Cancer Cell Line Encyclopedia databank, 68% are gynecologic cancer cells. Within JAK1 the K142, P430, and K860 frame-shift mutations were identified as hot spot mutation sites. Sanger sequencing of cancer cell lines, primary tumors, and matched normal tissues confirmed the JAK1 mutations and showed that these mutations are somatic. JAK1 mediates interferon (IFN)-gamma-regulated tumor immune surveillance. Functional assays show that JAK1 deficient cancer cells are defective in IFN-gamma-induced LMP2 and TAP1 expression, loss of which inhibits presentation of tumor antigens. These findings identify recurrent JAK1 truncating mutations that could contribute to tumor immune evasion in gynecologic cancers, especially in endometrial cancer.
Comments [show]
None has been submitted yet.
No. Sentence Comment
147 However, only 3 of the 36 TCC GYN tumors that carry JAK1 truncating mutations have POLE mutations in the N-terminal exonuclease domain (one P286R, P400T, and A465V mutation each).
X
ABCB2 p.Ala465Val 24154688:147:158
status: NEW