New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing.
Chronic lymphocytic leukemia (CLL) is a heterogeneous disease without a well-defined genetic alteration responsible for the onset of the disease. Several lines of evidence coincide in identifying stimulatory and growth signals delivered by B-cell receptor (BCR), and co-receptors together with NFkB p...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2012
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/1dbd48f719ae4b53950b5d1f9b7cc0eb |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:1dbd48f719ae4b53950b5d1f9b7cc0eb |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:1dbd48f719ae4b53950b5d1f9b7cc0eb2021-11-18T07:16:34ZNew mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing.1932-620310.1371/journal.pone.0038158https://doaj.org/article/1dbd48f719ae4b53950b5d1f9b7cc0eb2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22675518/?tool=EBIhttps://doaj.org/toc/1932-6203Chronic lymphocytic leukemia (CLL) is a heterogeneous disease without a well-defined genetic alteration responsible for the onset of the disease. Several lines of evidence coincide in identifying stimulatory and growth signals delivered by B-cell receptor (BCR), and co-receptors together with NFkB pathway, as being the driving force in B-cell survival in CLL. However, the molecular mechanism responsible for this activation has not been identified. Based on the hypothesis that BCR activation may depend on somatic mutations of the BCR and related pathways we have performed a complete mutational screening of 301 selected genes associated with BCR signaling and related pathways using massive parallel sequencing technology in 10 CLL cases. Four mutated genes in coding regions (KRAS, SMARCA2, NFKBIE and PRKD3) have been confirmed by capillary sequencing. In conclusion, this study identifies new genes mutated in CLL, all of them in cases with progressive disease, and demonstrates that next-generation sequencing technologies applied to selected genes or pathways of interest are powerful tools for identifying novel mutational changes.Elena DoménechGonzalo Gómez-LópezDaniel Gzlez-PeñaMar LópezBeatriz HerrerosJuliane MenezesNatalia Gómez-LozanoAngel CarroOsvaldo GrañaDavid G PisanoOrlando DomínguezJosé A García-MarcoMiguel A PirisMargarita Sánchez-BeatoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 6, p e38158 (2012) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Elena Doménech Gonzalo Gómez-López Daniel Gzlez-Peña Mar López Beatriz Herreros Juliane Menezes Natalia Gómez-Lozano Angel Carro Osvaldo Graña David G Pisano Orlando Domínguez José A García-Marco Miguel A Piris Margarita Sánchez-Beato New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| description |
Chronic lymphocytic leukemia (CLL) is a heterogeneous disease without a well-defined genetic alteration responsible for the onset of the disease. Several lines of evidence coincide in identifying stimulatory and growth signals delivered by B-cell receptor (BCR), and co-receptors together with NFkB pathway, as being the driving force in B-cell survival in CLL. However, the molecular mechanism responsible for this activation has not been identified. Based on the hypothesis that BCR activation may depend on somatic mutations of the BCR and related pathways we have performed a complete mutational screening of 301 selected genes associated with BCR signaling and related pathways using massive parallel sequencing technology in 10 CLL cases. Four mutated genes in coding regions (KRAS, SMARCA2, NFKBIE and PRKD3) have been confirmed by capillary sequencing. In conclusion, this study identifies new genes mutated in CLL, all of them in cases with progressive disease, and demonstrates that next-generation sequencing technologies applied to selected genes or pathways of interest are powerful tools for identifying novel mutational changes. |
| format |
article |
| author |
Elena Doménech Gonzalo Gómez-López Daniel Gzlez-Peña Mar López Beatriz Herreros Juliane Menezes Natalia Gómez-Lozano Angel Carro Osvaldo Graña David G Pisano Orlando Domínguez José A García-Marco Miguel A Piris Margarita Sánchez-Beato |
| author_facet |
Elena Doménech Gonzalo Gómez-López Daniel Gzlez-Peña Mar López Beatriz Herreros Juliane Menezes Natalia Gómez-Lozano Angel Carro Osvaldo Graña David G Pisano Orlando Domínguez José A García-Marco Miguel A Piris Margarita Sánchez-Beato |
| author_sort |
Elena Doménech |
| title |
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| title_short |
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| title_full |
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| title_fullStr |
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| title_full_unstemmed |
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| title_sort |
new mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/1dbd48f719ae4b53950b5d1f9b7cc0eb |
| work_keys_str_mv |
AT elenadomenech newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT gonzalogomezlopez newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT danielgzlezpena newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT marlopez newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT beatrizherreros newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT julianemenezes newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT nataliagomezlozano newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT angelcarro newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT osvaldograna newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT davidgpisano newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT orlandodominguez newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT joseagarciamarco newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT miguelapiris newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing AT margaritasanchezbeato newmutationsinchroniclymphocyticleukemiaidentifiedbytargetenrichmentanddeepsequencing |
| _version_ |
1718423648039075840 |