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  • Brandão, Rita D.Maastricht University,Maastricht University Medical Centre (författare)

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

  • Artikel/kapitelEngelska2019

Förlag, utgivningsår, omfång ...

  • 2019-02-07
  • Wiley,2019

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:be286bbe-1117-48ec-bc3f-7f02d16f1442
  • https://lup.lub.lu.se/record/be286bbe-1117-48ec-bc3f-7f02d16f1442URI
  • https://doi.org/10.1002/ijc.32114DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • A subset of genetic variants found through screening of patients with hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target enrichment of the transcriptome, it is possible to perform deep-sequencing and to identify the different and even rare mRNA isoforms. A targeted RNA-seq approach was used to analyse the naturally-occurring splicing events for a panel of 8 breast and/or ovarian cancer susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, PTEN, STK11, CDH1, TP53), 3 Lynch syndrome genes (MLH1, MSH2, MSH6) and the fanconi anaemia SLX4 gene, in which monoallelic mutations were found in non-BRCA families. For BRCA1, BRCA2, RAD51C and RAD51D the results were validated by capillary electrophoresis and were compared to a non-targeted RNA-seq approach. We also compared splicing events from lymphoblastoid cell-lines with those from breast and ovarian fimbriae tissues. The potential of targeted RNA-seq to detect pathogenic changes in RNA-splicing was validated by the inclusion of samples with previously well characterized BRCA1/2 genetic variants. In our study, we update the catalogue of normal splicing events for BRCA1/2, provide an extensive catalogue of normal RAD51C and RAD51D alternative splicing, and list splicing events found for eight other genes. Additionally, we show that our approach allowed the identification of aberrant splicing events due to the presence of BRCA1/2 genetic variants and distinguished between complete and partial splicing events. In conclusion, targeted-RNA-seq can be very useful to classify variants based on their putative pathogenic impact on splicing.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Mensaert, KlaasGhent University (författare)
  • López-Perolio, IreneHospital Clinico San Carlos de Madrid,Spanish Center for Biomedical Research Network in Oncology (CIBERONC) (författare)
  • Tserpelis, DemisMaastricht University Medical Centre,Maastricht University (författare)
  • Xenakis, MarkosMaastricht University Medical Centre,Maastricht University (författare)
  • Lattimore, VanessaUniversity of Otago (författare)
  • Walker, Logan C.University of Otago (författare)
  • Kvist, AndersLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)ekol-akv (författare)
  • Vega, AnaBiomedical Network on Rare Diseases (CIBERER) (författare)
  • Gutiérrez-Enríquez, SaraVall d'Hebron University Hospital (författare)
  • Díez, OrlandVall d'Hebron University Hospital (författare)
  • de la Hoya, MiguelSpanish Center for Biomedical Research Network in Oncology (CIBERONC),Hospital Clinico San Carlos de Madrid (författare)
  • Spurdle, Amanda B.QIMR Berghofer Medical Research Institute (författare)
  • De Meyer, TimGhent University (författare)
  • Blok, Marinus J.Maastricht University Medical Centre,Maastricht University (författare)
  • Maastricht UniversityMaastricht University Medical Centre (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:International Journal of Cancer: Wiley145:2, s. 401-4140020-71361097-0215

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