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Sökning: WFRF:(Blok Marinus J) > (2019) > Targeted RNA-seq su...

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

Brandão, Rita D. (författare)
Maastricht University Medical Centre,Maastricht University
Mensaert, Klaas (författare)
Ghent University
López-Perolio, Irene (författare)
Hospital Clinico San Carlos de Madrid,Spanish Center for Biomedical Research Network in Oncology (CIBERONC)
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Tserpelis, Demis (författare)
Maastricht University,Maastricht University Medical Centre
Xenakis, Markos (författare)
Maastricht University,Maastricht University Medical Centre
Lattimore, Vanessa (författare)
University of Otago
Walker, Logan C. (författare)
University of Otago
Kvist, Anders (författare)
Lund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups
Vega, Ana (författare)
Biomedical Network on Rare Diseases (CIBERER)
Gutiérrez-Enríquez, Sara (författare)
Vall d'Hebron University Hospital
Díez, Orland (författare)
Vall d'Hebron University Hospital
de la Hoya, Miguel (författare)
Spanish Center for Biomedical Research Network in Oncology (CIBERONC),Hospital Clinico San Carlos de Madrid
Spurdle, Amanda B. (författare)
QIMR Berghofer Medical Research Institute
De Meyer, Tim (författare)
Ghent University
Blok, Marinus J. (författare)
Maastricht University,Maastricht University Medical Centre
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 (creator_code:org_t)
2019-02-07
2019
Engelska.
Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 145:2, s. 401-414
Relaterad länk:
http://dx.doi.org/10... (free)
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https://onlinelibrar...
https://lup.lub.lu.s...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

alternative splicing
BRCA1/2
inherited breast/ovarian cancer syndrome
lynch syndrome
targeted RNA-seq

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art (ämneskategori)
ref (ämneskategori)

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