First Russian nationwide molecular epidemiological study for melanoma: results of BRAF mutation analysis

G.A. Frank

Moskovskiĭ nauchno-issledovatel'skiĭ onkologicheskiĭ institut im. P.A. Gertsena Rosmedtekhnologiĭ, Moskva

L.É. Zavalishina

FGBU "Moskovskiĭ nauchno-issledovatel'skiĭ onkologicheskiĭ institut im. P.A. Gertsena" Minzdravsotsrazvitiia Rossii

T.V. Kekeeva

FGBU "Moskovskiĭ nauchno-issledovatel'skiĭ onkologicheskiĭ institut im. P.A. Gertsena" Minzdrava Rossii

C.N. Aleksakhina

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

T.R. Garifullina

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

O.A. Ivantsov

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

N.V. Mitiushkina

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

V. Pfaĭfer

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

T.N. Strelkova

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

E.N. Imianitov

NII onkologii im. N.N. Petrova, Sankt-Peterburg

First Russian nationwide molecular epidemiological study for melanoma: results of BRAF mutation analysis

Authors:

G.A. Frank, L.É. Zavalishina, T.V. Kekeeva, C.N. Aleksakhina, T.R. Garifullina, O.A. Ivantsov, N.V. Mitiushkina, V. Pfaĭfer, T.N. Strelkova, E.N. Imianitov

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Journal: Russian Journal of Archive of Pathology. 2014;76(3): 65‑73

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Frank GA, Zavalishina LÉ, Kekeeva TV, Aleksakhina CN, Garifullina TR, Ivantsov OA, Mitiushkina NV, Pfaĭfer V, Strelkova TN, Imianitov EN. First Russian nationwide molecular epidemiological study for melanoma: results of BRAF mutation analysis. Russian Journal of Archive of Pathology. 2014;76(3):65‑73. (In Russ.)

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This report presents the initial results of the first Russian molecular epidemiological study of melanoma. The investigation included 1035 patients with stage IIIB-IV melanoma residing in various regions of Russia. Sequencing of BRAF gene revealed mutation in 627 (60.6%) tumors; c.1799T>A (p.V600E) substitution was detected in 563 cases, and other mutations in 64 melanomas. Frequency of BRAF alterations was significantly higher in patients of younger age (< 50 years: 72.9%; 50 years: 57.1%; p=0.00003). 710 melanomas included in the study were located in sun non-exposed regions of the skin; this category of tumors was characterized by the highest occurrence of BRAF mutations (63.9%). In conclusion, more than a half of Russian patients with advanced melanoma are potential candidates for the treatment of kinase inhibitors of mutated BRAF.

Keywords:

melanoma

molecular genetic study

mutations in the BRAF gene

Authors:

G.A. Frank

Moskovskiĭ nauchno-issledovatel'skiĭ onkologicheskiĭ institut im. P.A. Gertsena Rosmedtekhnologiĭ, Moskva

L.É. Zavalishina

FGBU "Moskovskiĭ nauchno-issledovatel'skiĭ onkologicheskiĭ institut im. P.A. Gertsena" Minzdravsotsrazvitiia Rossii

T.V. Kekeeva

FGBU "Moskovskiĭ nauchno-issledovatel'skiĭ onkologicheskiĭ institut im. P.A. Gertsena" Minzdrava Rossii

C.N. Aleksakhina

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

T.R. Garifullina

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

O.A. Ivantsov

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

N.V. Mitiushkina

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

V. Pfaĭfer

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

T.N. Strelkova

FGBU "Nauchno- issledovatel'skiĭ institut onkologii im. N.N. Petrova" Minzdrava Rossii, Sankt-Peterburg

E.N. Imianitov

NII onkologii im. N.N. Petrova, Sankt-Peterburg

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