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http://hdl.handle.net/10261/196395
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dc.contributor.author | Lopez Periolo, Irene | es_ES |
dc.contributor.author | Leman, Raphaël | es_ES |
dc.contributor.author | Behar, Raquel | es_ES |
dc.contributor.author | Lattimore, Vanessa | es_ES |
dc.contributor.author | Pearson, John F. | es_ES |
dc.contributor.author | Castéra, Laurent | es_ES |
dc.contributor.author | Martins, Alexandra | es_ES |
dc.contributor.author | Vaur, Dominique | es_ES |
dc.contributor.author | Goardon, Nicolas | es_ES |
dc.contributor.author | Davy, Grégoire | es_ES |
dc.contributor.author | Garre, Pilar | es_ES |
dc.contributor.author | García-Barberán, Vanesa | es_ES |
dc.contributor.author | Llovet, Patricia | es_ES |
dc.contributor.author | Pérez-Segura, Pedro | es_ES |
dc.contributor.author | Díaz Rubio, Eduardo | es_ES |
dc.contributor.author | Caldés, Trinidad | es_ES |
dc.contributor.author | Hruska, Kathleen S. | es_ES |
dc.contributor.author | Hsuan, Vickie | es_ES |
dc.contributor.author | Wu, Sitao | es_ES |
dc.contributor.author | Pesaran, Tina | es_ES |
dc.contributor.author | Karam, Rachid | es_ES |
dc.contributor.author | Vallon-Christersson, Johan | es_ES |
dc.contributor.author | Borg, Ake | es_ES |
dc.contributor.author | KConFab Investigators | es_ES |
dc.contributor.author | Valenzuela-Palomo, Alberto | es_ES |
dc.contributor.author | Velasco, Eladio | es_ES |
dc.contributor.author | Southey, Melissa | es_ES |
dc.contributor.author | Vreeswijk, Maaike P. G. | es_ES |
dc.contributor.author | Devilee, Peter | es_ES |
dc.contributor.author | Kvist, Anders | es_ES |
dc.contributor.author | Spurdle, Amanda B. | es_ES |
dc.contributor.author | Walker, Logan C. | es_ES |
dc.contributor.author | Krieger, Sophie | es_ES |
dc.contributor.author | Hoya, Miguel de la | es_ES |
dc.date.accessioned | 2019-12-11T08:41:07Z | - |
dc.date.available | 2019-12-11T08:41:07Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Journal of Medical Genetics 56(7): 453-460 (2019) | es_ES |
dc.identifier.issn | 0022-2593 | - |
dc.identifier.uri | http://hdl.handle.net/10261/196395 | - |
dc.description | Cancer genetics: Original article. | es_ES |
dc.description.abstract | [Background] PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are similar. Elaborating robust criteria to identify loss-of-function variants in PALB2—without incurring overprediction—is thus of paramount clinical relevance. Towards this aim, we have performed a comprehensive characterisation of alternative splicing in PALB2, analysing its relevance for the classification of truncating and splice site variants according to the 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines. | es_ES |
dc.description.abstract | [Methods] Alternative splicing was characterised in RNAs extracted from blood, breast and fimbriae/ovary-related human specimens (n=112). RNAseq, RT-PCR/CE and CloneSeq experiments were performed by five contributing laboratories. Centralised revision/curation was performed to assure high-quality annotations. Additional splicing analyses were performed in PALB2 c.212–1G>A, c.1684+1G>A, c.2748+2T>G, c.3113+5G>A, c.3350+1G>A, c.3350+4A>C and c.3350+5G>A carriers. The impact of the findings on PVS1 status was evaluated for truncating and splice site variant. | es_ES |
dc.description.abstract | [Results] We identified 88 naturally occurring alternative splicing events (81 newly described), including 4 in-frame events predicted relevant to evaluate PVS1 status of splice site variants. We did not identify tissue-specific alternate gene transcripts in breast or ovarian-related samples, supporting the clinical relevance of blood-based splicing studies. | es_ES |
dc.description.abstract | [Conclusions] PVS1 is not necessarily warranted for splice site variants targeting four PALB2 acceptor sites (exons 2, 5, 7 and 10). As a result, rare variants at these splice sites cannot be assumed pathogenic/likely pathogenic without further evidences. Our study puts a warning in up to five PALB2 genetic variants that are currently reported as pathogenic/likely pathogenic in ClinVar. | es_ES |
dc.description.sponsorship | Received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia and the National Institute of Health [USA]. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | BMJ Publishing Group | es_ES |
dc.relation.isversionof | Publisher's version | es_ES |
dc.rights | openAccess | es_ES |
dc.title | Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA repor | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.1136/jmedgenet-2018-105834 | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | http://dx.doi.org/10.1136/jmedgenet-2018-105834 | es_ES |
dc.identifier.e-issn | 1468-6244 | - |
dc.rights.license | http://creativecommons.org/licenses/by-nc/4.0/ | es_ES |
dc.contributor.funder | American Breast Cancer Foundation | es_ES |
dc.contributor.funder | Cancer Australia | es_ES |
dc.contributor.funder | National Institutes of Health (US) | es_ES |
dc.contributor.funder | National Health and Medical Research Council (Australia) | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.identifier.funder | http://dx.doi.org/10.13039/501100000925 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100001935 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100001111 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100000002 | es_ES |
dc.identifier.pmid | 30890586 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.languageiso639-1 | en | - |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.openairetype | artículo | - |
Aparece en las colecciones: | (IBGM) Artículos |
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alternarepor.pdf | 670,73 kB | Adobe PDF | Visualizar/Abrir |
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