Variants-Mutants

• EGFR-L858R
  6 October 2021

  MCG

• NRAS-Q61K
  14 April 2017

  See also
  NRAS-Q61R
  Open references
  NRAS(Q61K) mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications.
  Angelino G, De Pasquale MD, De Sio L, Serra A, Massimi L, De Vito R, Marrazzo A, Lancella L, Carai A, Antonelli M, Giangaspero F, Gessi M, Menchini L, Scarciolla L, Longo D, Mastronuzzi A.
  BMC Cancer. 2016 Jul 20;16:512. doi:10.1186/s12885-016-2556-y.
  PMID: #27439913# (...)

• KRAS-G12D
  9 December 2016

  See also
  KRAS-G12V
  Open references
  KRAS G12D Mutation Subtype Is A Prognostic Factor for Advanced Pancreatic Adenocarcinoma. Bournet B, Muscari F, Buscail C, Assenat E, Barthet M, Hammel P, Selves J, Guimbaud R, Cordelier P, Buscail L. Clin Transl Gastroenterol. 2016 Mar 24;7:e157. doi:10.1038/ctg.2016.18. PMID: #27010960# Free

• KRAS-G12V
  8 November 2016

  Pathology
  Patients with KRAS G12V exhibited worse OS and higher recurrence incidences.
  Open references
  Prognostic value of the KRAS G12V mutation in 841 surgically resected Caucasian lung adenocarcinoma cases. Renaud S, Falcoz PE, Schaëffer M, Guenot D, Romain B, Olland A, Reeb J, Santelmo N, Chenard MP, Legrain M, Voegeli AC, Beau-Faller M, Massard G. Br J Cancer. 2015 Oct 20;113(8):1206-15. doi:10.1038/bjc.2015.327. PMID: #26372703# (...)

• EGFR-L681Q
  2 November 2016

  MCG
  The L861Q mutation results in an amino acid substitution at position 861 in EGFR, from a leucine (L) to a glutamine (Q). This mutation occurs within exon 21, which encodes part of the kinase domain, and occurs with a frequency of approximately 2% in EGFR-mutated lung tumors (Mitsudomi and Yatabe 2010).
  This mutation is associated with increased sensitivity to the EGFR TKIs, erlotinib (Tarceva) and gefitinib (Iressa; Lynch et al. (...)

• EGFR-E709X
  2 November 2016

  Open references
  Effectiveness of tyrosine kinase inhibitors on uncommon E709X epidermal growth factor receptor mutations in non-small-cell lung cancer.
  Wu JY, Shih JY.
  Onco Targets Ther. 2016 Oct 11;9:6137-6145.
  PMID: #27785061# Free

• BCOR internal tandem duplication
  1 November 2016

  BCOR ITD
  IHC
  BCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities. (#27428733#)
  Pathology
  BCOR internal tandem duplications (ITD) in :
  Ewing-like sarcoma (#27000436#)
  clear cell sarcoma of the kidney (CCSK) (#26098867#, #26874462#, #27000436#, #26573325#)
  Open references
  Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Roy A, Kumar V, Zorman B, Fang E, Haines KM, Doddapaneni H, Hampton OA, (...)

• AKT1-E17K
  31 October 2016

  AKT1E17K
  AKT1
  Phosphoinositide 3-kinases (PI3Ks) generate specific inositol lipids implicated in the regulation of cell growth, proliferation, survival, differentiation, and cytoskeletal changes. One of the best characterized targets of PI3K lipid products are AKTs (AKT1 and AKT2) (protein kinases B or PKBs).
  The serine/threonine protein kinase AKT1 (also known as PKB, protein kinase B) is thought to be a key mediator of signal transduction processes. The identification of AKT1 (...)

• HRAS-Q61R
  31 October 2016

  HRASQ61R
  Tumors
  medullary thyroid carcinoma (MTC)
  A quarter of patients with medullary thyroid carcinoma (MTC) have germline mutations in the RET proto-oncogene indicating MEN2.
  Approximately 40% of MTCs have somatic RET mutations.
  Somatic mutations in the RAS genes are the next most common driver mutations and appear to be mutually exclusive with germline RET mutation.
  The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs. (...)

• EGFR-Del19
  10 October 2016

  Exon 19 deletions
  Definition: EGFR-Del19 are exon 19 deletions.
  Open references
  Comparing overall survival between first generation EGFR-TKIs and chemotherapy in lung cancer patients with Del19/L858R.
  Deng W, Lei Y, Liu S, Yang J, Tu H, Yan H, Wu Y.
  Chin J Cancer Res. 2016 Jun;28(3):339-47.
  doi:10.21147/j.issn.1000-9604.2016.03.08.
  PMID: #27478319#
  Ibrutinib selectively and irreversibly targets EGFR (L858R, Del19) mutant but is moderately resistant to EGFR (T790M) mutant NSCLC (...)

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