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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.

Carolyn HortonAshley CassBlair R ConnerLily HoangHeather ZimmermannNelly AbualkheirDavid BurksDajun QianBhuvan MolpariaHuy VuongHolly LaDucaJessica GrzybowskiKate DurdaRobert PilarskiJessica ProfatoKatherine ClaybackMartin Christopher MahoneyCourtney SchroederWilfredo Torres-MartinezAaron ElliottElizabeth C ChaoRachid Karam
Published in: NPJ genomic medicine (2022)
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer predisposition.
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