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Order number AK1602-S 100 assays

The AKCELL BRAF AK™PCR Mutation Screen Kit is designed to screen for mutations on the BRAF gene in genomic DNA, commonly associated with melanoma, thyroid, colorectal, ovarian and lung cancers.

BRAF Mutations and Cancer

BRAF is a human gene that makes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.[1][2]

The B-Raf protein is involved in sending signals inside cells, which are involved in directing cell growth. In 2002, it was shown to be faulty (mutated) in some human cancers.[3] Certain other inherited BRAF mutations cause birth defects.

More than 30 mutations of the BRAF gene associated with human cancers have been identified. The frequency of BRAF mutations varies widely in human cancers, from more than 80% in melanomas and nevi, to as little as 0–18% in other tumors, such as 1–3% in lung cancers and 5% in colorectal cancer.[4] In 90% of the cases, thymine is substituted with adenine at nucleotide 1799. This leads to valine (V) being substituted for by glutamate (E) at codon 600 (now referred to as V600E) in the activation segment that has been found in human cancers.[5] This mutation has been widely observed in papillary thyroid carcinoma, colorectal cancer, melanoma and non-small-cell lung cancer.[4][5][6][7] BRAF-V600E mutation are present in 57% of Langerhans cell histiocytosis patients.[8] The V600E mutation is a likely driver mutation in 100% of cases of hairy cell leukaemia.[9] High frequency of BRAF V600E mutations have been detected in ameloblastoma, a benign but locally infiltrative odontogenic neoplasm.[10] The V600E mutation may also be linked, as a single-driver mutation (a genetic ‘smoking gun’) to certain cases of papillary craniopharyngioma development.[11]

Equipment Compatible with ABI 7500 Real-Time Systems or equivalent.

Intended Use AKCELL’s BRAF mutation screen reagents are provided for research use only (RUO).

1- Sithanandam G, Kolch W, Duh FM, Rapp UR (December 1990). “Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies”. Oncogene 5 (12): 1775–80.

2- Sithanandam G, Druck T, Cannizzaro LA, Leuzzi G, Huebner K, Rapp UR (April 1992). “B-raf and a B-raf pseudogene are located on 7q in man”. Oncogene 7 (4): 795–9.

3- Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA (June 2002). “Mutations of the BRAF gene in human cancer”. Nature 417(6892): 949–54.

4- Namba H, Nakashima M, Hayashi T, Hayashida N, Maeda S, Rogounovitch TI, Ohtsuru A, Saenko VA, Kanematsu T, Yamashita S (September 2003). “Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers”. J. Clin. Endocrinol. Metab. 88 (9): 4393–7.

5- Tan YH, Liu Y, Eu KW, Ang PW, Li WQ, Salto-Tellez M, Iacopetta B, Soong R (April 2008). “Detection of BRAF V600E mutation by pyrosequencing”. Pathology 40 (3): 295–8.

6- Deng G, Bell I, Crawley S, Gum J, Terdiman JP, Allen BA, Truta B, Sleisenger MH, Kim YS (January 2004). “BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer”. Clin. Cancer Res. 10 (1 Pt 1): 191–5.

7- Gear H, Williams H, Kemp EG, Roberts F (August 2004). “BRAF mutations in conjunctival melanoma”. Invest. Ophthalmol. Vis. Sci. 45 (8): 2484–8.

8- Badalian-Very G, Vergilio JA, Degar BA, Rodriguez-Galindo C, Rollins BJ (January 2012). “Recent advances in the understanding of Langerhans cell histiocytosis”. Br. J. Haematol. 156 (2): 163–72.

9- Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, Sportoletti P, Pettirossi V, Mannucci R, Elliott O, Liso A, Ambrosetti A, Pulsoni A, Forconi F, Trentin L, Semenzato G, Inghirami G, Capponi M, Di Raimondo F, Patti C, Arcaini L, Musto P, Pileri S, Haferlach C, Schnittger S, Pizzolo G, Foà R, Farinelli L, Haferlach T, Pasqualucci L, Rabadan R, Falini B (June 2011). “BRAF mutations in hairy-cell leukemia”. N. Engl. J. Med. 364 (24): 2305–15.

10- Kurppa KJ, Catón J, Morgan PR, Ristimäki A, Ruhin B, Kellokoski J, Elenius K, Heikinheimo K (2014). “High frequency of BRAF V600E mutations in ameloblastoma”. J. Pathol. 232 (5): 492–8.

11- Brastianos PK, Taylor-Weiner A, Manley PE, Jones RT, Dias-Santagata D, Thorner AR, Lawrence MS, Rodriguez FJ, Bernardo LA, Schubert L, Sunkavalli A, Shillingford N, Calicchio ML, Lidov HG, Taha H, Martinez-Lage M, Santi M, Storm PB, Lee JY, Palmer JN, Adappa ND, Scott RM, Dunn IF, Laws ER, Stewart C, Ligon KL, Hoang MP, Van Hummelen P, Hahn WC, Louis DN, Resnick AC, Kieran MW, Getz G, Santagata S (2014). “Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas”. Nat. Genet. 46 (2): 161–5.