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Clinical and therapeutic implications of BRAF mutation heterogeneity in metastatic melanoma
Author(s) -
Mesbah Ardakani Nima,
Leslie Connull,
GrieuIacopetta Fabienne,
Lam WeiSen,
Budgeon Charley,
Millward Michael,
Amanuel Benhur
Publication year - 2017
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12569
Subject(s) - melanoma , metastatic melanoma , medicine , v600e , overall survival , mutation , oncology , cancer research , genotype , allele , vemurafenib , cohort , biology , genetics , gene
Summary Heterogeneity of BRAF mutation in melanoma has been a controversial subject. Quantitative data on BRAF allele frequency ( AF ) are sparse, and the potential relationship with response to BRAF inhibitors ( BRAF i ) in patients with metastatic melanoma is unknown. We quantitatively measured BRAF AF in a cohort of treatment naïve metastatic melanoma samples by pyrosequencing and correlated with survival data in patients treated with BRAF i as part of their clinical care. Fifty‐two samples from 50 patients were analysed. BRAF V600E mutations were detected in 71.1% of samples followed by V600K (25%) and V600R (3.9%). There was a wide range of AF from 3.9% to 80.3% (median 41.3%). In 33 patients treated with BRAF i , there was no difference in overall or progression‐free survival when the patients were categorized into high or low AF groups. There was no correlation between AF and degree of response, and no difference in survival based on genotype.