Melanoma genomics – will we go beyond BRAF in clinics?

Abstract In the era of next-generation sequencing, the genetic background of cancer, including melanoma, appears to be thoroughly established. However, evaluating the oncogene BRAF mutation in codon V600 is still the only companion diagnostic genomic test commonly implemented in clinics for molecula...

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Main Authors: Justyna Mirek, Wiesław Bal, Magdalena Olbryt
Format: Article
Language:English
Published: Springer 2024-09-01
Series:Journal of Cancer Research and Clinical Oncology
Subjects:
Online Access:https://doi.org/10.1007/s00432-024-05957-2
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author Justyna Mirek
Wiesław Bal
Magdalena Olbryt
author_facet Justyna Mirek
Wiesław Bal
Magdalena Olbryt
author_sort Justyna Mirek
collection DOAJ
description Abstract In the era of next-generation sequencing, the genetic background of cancer, including melanoma, appears to be thoroughly established. However, evaluating the oncogene BRAF mutation in codon V600 is still the only companion diagnostic genomic test commonly implemented in clinics for molecularly targeted treatment of advanced melanoma. Are we wasting the collected genomic data? Will we implement our current genomic knowledge of melanoma in clinics soon? This question is rather urgent because new therapeutic targets and biomarkers are needed to implement more personalized, patient-tailored therapy in clinics. Here, we provide an update on the molecular background of melanoma, including a description of four already established molecular subtypes: BRAF+, NRAS+, NF1+, and triple WT, as well as relatively new NGS-derived melanoma genes such as PREX2, ERBB4, PPP6C, FBXW7, PIK3CA, and IDH1. We also present a comparison of genomic profiles obtained in recent years with a focus on the most common melanoma genes. Finally, we propose our melanoma gene panel consisting of 22 genes that, in our opinion, are “must-have” genes in both melanoma-specific genomic tests and pan-cancer tests established to improve the treatment of melanoma further.
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spelling doaj-art-3764da1d0a3d43aeaa1485217077310c2025-02-09T12:10:04ZengSpringerJournal of Cancer Research and Clinical Oncology1432-13352024-09-01150911310.1007/s00432-024-05957-2Melanoma genomics – will we go beyond BRAF in clinics?Justyna Mirek0Wiesław Bal1Magdalena Olbryt2Center for Translational Research and Molecular Biology of Cancer, Maria Sklodowska-Curie National Research Institute of Oncology Gliwice BranchChemotherapy Day Unit, Maria Sklodowska-Curie National Research Institute of Oncology Gliwice BranchCenter for Translational Research and Molecular Biology of Cancer, Maria Sklodowska-Curie National Research Institute of Oncology Gliwice BranchAbstract In the era of next-generation sequencing, the genetic background of cancer, including melanoma, appears to be thoroughly established. However, evaluating the oncogene BRAF mutation in codon V600 is still the only companion diagnostic genomic test commonly implemented in clinics for molecularly targeted treatment of advanced melanoma. Are we wasting the collected genomic data? Will we implement our current genomic knowledge of melanoma in clinics soon? This question is rather urgent because new therapeutic targets and biomarkers are needed to implement more personalized, patient-tailored therapy in clinics. Here, we provide an update on the molecular background of melanoma, including a description of four already established molecular subtypes: BRAF+, NRAS+, NF1+, and triple WT, as well as relatively new NGS-derived melanoma genes such as PREX2, ERBB4, PPP6C, FBXW7, PIK3CA, and IDH1. We also present a comparison of genomic profiles obtained in recent years with a focus on the most common melanoma genes. Finally, we propose our melanoma gene panel consisting of 22 genes that, in our opinion, are “must-have” genes in both melanoma-specific genomic tests and pan-cancer tests established to improve the treatment of melanoma further.https://doi.org/10.1007/s00432-024-05957-2MelanomaGenomicsNGSGenomic testingBRAF
spellingShingle Justyna Mirek
Wiesław Bal
Magdalena Olbryt
Melanoma genomics – will we go beyond BRAF in clinics?
Journal of Cancer Research and Clinical Oncology
Melanoma
Genomics
NGS
Genomic testing
BRAF
title Melanoma genomics – will we go beyond BRAF in clinics?
title_full Melanoma genomics – will we go beyond BRAF in clinics?
title_fullStr Melanoma genomics – will we go beyond BRAF in clinics?
title_full_unstemmed Melanoma genomics – will we go beyond BRAF in clinics?
title_short Melanoma genomics – will we go beyond BRAF in clinics?
title_sort melanoma genomics will we go beyond braf in clinics
topic Melanoma
Genomics
NGS
Genomic testing
BRAF
url https://doi.org/10.1007/s00432-024-05957-2
work_keys_str_mv AT justynamirek melanomagenomicswillwegobeyondbrafinclinics
AT wiesławbal melanomagenomicswillwegobeyondbrafinclinics
AT magdalenaolbryt melanomagenomicswillwegobeyondbrafinclinics