KRAS G12D

虽然Kras G12区域是广泛研究的癌症复发区域,但其对临床作用的影响仍在积极讨论中。通常与其他驱动因素(egfr和alk)为野生型的肿瘤相关,这种突变患者的预后似乎比结直肠癌和胰腺癌患者的kras野生型队列更差,但这一假设需要进一步验证。这种突变,连同影响邻近的G13位置的突变,在用第一代tki(如吉非替尼)治疗时,可能导致反应性较低的肿瘤。NCCN大肠癌指南中建议,靶向治疗西妥昔单抗和帕尼图单抗只能用于野生型KRA。然而,西妥昔单抗治疗显示,在一个有g12d突变的结直肠患者队列中延长了生存期。总的来说,大多数临床情况下对Kras突变的解释还没有决定。
While the KRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still actively debated. Often associated with tumors that are wild-type for other drivers (EGFR and ALK specifically), the prognosis for patients with this mutation seems to be worse than the KRAS wild-type cohort in patients with colorectal and pancreatic cancer, however this hypothesis is in need of further validation. This mutation, along with the mutations affecting the neighboring G13 position, may result in a less responsive tumor when treated with first-generation TKI's like gefitinib. The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations. Overall, the interpretation for KRAS mutations in most clinical scenarios is still undecided.

别名

GLY12ASP,RS121913529
Allele Registry ID:CA122538
ClinVar ID:12582

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
122539828425398284CT
Transcript
ENST00000256078.4

基因序列

NM_004985.4:c.35G>003eA
NP_004976.2:p.Gly12Asp
NC_000012.11:g.25398284C>003eT
ENST00000256078.4:c.35G>003eA