Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Laura Duran-LozanoGemma MontalbanSandra BonacheAlejandro Moles-FernándezAnna TenésMarta Castroviejo-BermejoEstela CarrascoAdrià López-FernándezSara Torres-EsquiusNeus GadeaNeda StjepanovicJudith BalmañaSara Gutiérrez-Enríquez Orland Diez

Published in: Breast cancer research and treatment (2018)

Our results support a pathogenic classification for PALB2 c.3201+5G>T, highlighting the impact of variants causing an imbalanced expression of natural RNA isoforms in cancer susceptibility.

Keyphrases

papillary thyroid
poor prognosis
machine learning
deep learning
copy number
squamous cell
childhood cancer
rna seq
binding protein
long non coding rna
gene expression
young adults
genome wide
nucleic acid
single cell