Variations of BRAF mutant allele percentage in melanomas
| العنوان: | Variations of BRAF mutant allele percentage in melanomas |
|---|---|
| المؤلفون: | Chan Kwon Jung, T. Clerici, Elisa Funck-Brentano, Catherine Le Gall, Cristi Marin, Laure Baudoux, Philippe Saiag, Frédérique Peschaud, U. Zimmermann, Valérie Taly, Zofia Hélias-Rodzewicz, Jean-François Emile |
| المساهمون: | TALY, Valerie, Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Service de pathologie [CHU Ambroise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Service de Dermatologie Générale et Oncologique [AP-HP Hôpital Ambroise-Paré, Paris], Hôpital Ambroise Paré [AP-HP], Department of Hospital Pathology [Seoul, Korea] (College of Medicine), The Catholic University of Korea [Seoul, Korea], Service de chirurgie vasculaire [AP-HP Ambroise-Paré, Boulogne-Billancourt], Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique (MEPPOT - U1147), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), This work was supported partly by grants from the Association Vaincre le Mélanome, Ligue Contre le Cancer (Comité 92 WB2013-232), and Association pour la Recherche et l’Enseignement en Pathologie (AREP). |
| المصدر: | BMC Cancer BMC Cancer, BioMed Central, 2015, 15 (1), pp.497. ⟨10.1186/s12885-015-1515-3⟩ |
| بيانات النشر: | Springer Science and Business Media LLC, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Proto-Oncogene Proteins B-raf, Heterozygote, Cancer Research, endocrine system diseases, [SDV]Life Sciences [q-bio], Aneuploidy, Single-nucleotide polymorphism, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, BRAF, Loss of heterozygosity, Genetics, medicine, Humans, Allele, skin and connective tissue diseases, Melanoma, neoplasms, In Situ Hybridization, Fluorescence, Chromosome 7 (human), Polysomy, Heterozygosity, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, medicine.disease, Molecular biology, digestive system diseases, 3. Good health, [SDV] Life Sciences [q-bio], enzymes and coenzymes (carbohydrates), Oncology, Chromosomes, Human, Pair 7, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Research Article, Fluorescence in situ hybridization |
| الوصف: | Background BRAF mutations are present in 40 % of human skin melanomas. Mutated tumors with an increased percentage of BRAF mutant alleles (BRAF-M%) may have a better response to RAF/MEK inhibitors. We evaluated the BRAF-M% in melanomas, and the genetic causes of its variation. Methods BRAF-M% was quantified by pyrosequencing, real-time PCR (rtPCR) and/or picoliter-droplet PCR (dPCR). BRAF mutant expression was detected by immunohistochemistry. Chromosomal alterations were analyzed with fluorescence in situ hybridization (FISH), and single nucleotide polymorphism (SNP) arrays. Results BRAF-M% quantification obtained with pyrosequencing was highly correlated (R = 0.94) with rtPCR, and with dPCR. BRAF-M% quantified from DNA and RNA were also highly correlated (R = 0.98). Among 368 samples with >80 % tumor cells, 38.6 % had a BRAFV600E mutation. Only 66.2 % cases were heterozygous (BRAF-M% 30 to 60 %). Increased BRAF-M% (>60 %) was observed in 19 % of cases. FISH showed a polysomy of chromosome 7 in 13.6 %, 35.3 % and 54.5 % of BRAF wild-type, heterozygous and non-heterozygous BRAF-mutated samples, respectively (P |
| وصف الملف: | application/pdf |
| تدمد: | 1471-2407 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aaa29701f1a917f53e475462606e52dTest https://doi.org/10.1186/s12885-015-1515-3Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4aaa29701f1a917f53e475462606e52d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712407 |
|---|