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BRAF
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Interpretation 2312
Tier 1
BRAF
Variants
BRAF V600E
Primary Sites
Thyroid
Tumor Types
Carcinoma
Interpretation

BRAF is part of the mitogen-activated protein kinase (MAPK) signaling pathway and V600E is an activating mutation of BRAF. The BRAF V600E mutation has been reported in 45% of patients with papillary thyroid carcinoma, which comprise 80 % of all thyroid cancers. Presence of a BRAF p.Val600Glu (V600E) mutation is highly specific for papillary thyroid carcinoma and is only rarely associated with the follicular variant PTC, other thyroid neoplasms, or nodular goiters. Anaplastic thyroid carcinomas are rare, highly aggressive, undifferentiated tumors that comprise 1% to 2% of all thyroid cancers in the United States. Well-differentiated papillary thyroid cancer, in which BRAF V600 mutations are an early and common driver mutation, precedes or coexists with approximately 50% of anaplastic thyroid carcinomas. Between 20% and 50% of anaplastic thyroid carcinomas harbor activating BRAF V600 mutations, with unknown prognostic significance. The possible prognostic impact of BRAF V600E mutations in carcinoma of the thyroid continues to be studied.

Citations
  1. Yarchoan M, et al. BRAF mutation and thyroid cancer recurrence. J Clin Oncol 2015; 33(1):7-8.
  2. Davies H, et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417(6892):949-54.
  3. Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell 2014; 159(3):676-90.
  4. Subbiah V, Kreitman RJ, Wainberg ZA, Cho JY, Schellens JHM, Soria JC, Wen PY, Zielinski C, Cabanillas ME, Urbanowitz G, Mookerjee B, Wang D, Rangwala F, Keam B. Dabrafenib and Trametinib Treatment in Patients With Locally Advanced or Metastatic BRAF V600-Mutant Anaplastic Thyroid Cancer. J Clin Oncol. 2018 Jan 1; 36(1):7-13.
  5. Guerra A, Di Crescenzo V, Garzi A, et al: Genetic mutations in the treatment of anaplastic thyroid cancer: A systematic review. BMC Surg 13:S44, 2013.
  6. Kunstman JW, Juhlin CC, Goh G, et al.: Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Hum Mol Genet 24:2318-2329, 2015.
  7. Landa I, Ibrahimpasic T, Boucai L, et al.: Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest 126:1052-1066, 2016.
  8. Sandulache VC, Williams MD, Lai SY, et al.: Real-time genomic characterization utilizing circulating cell-free DNA in patients with anaplastic thyroid carcinoma. Thyroid 27:81-87, 2017.
  9. McIver B, Hay ID, Giuffrida DF, et al.: Anaplastic thyroid carcinoma: A 50-year experience at a single institution. Surgery 130:1028-1034, 2001.
Last updated: 2019-05-23 22:43:59 UTC
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