D
Dina Ruano
Researcher at Leiden University Medical Center
Publications - 59
Citations - 1814
Dina Ruano is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 20, co-authored 44 publications receiving 1341 citations. Previous affiliations of Dina Ruano include Loyola University Medical Center & Leiden University.
Papers
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Journal ArticleDOI
Practical guidance for mismatch repair-deficiency testing in endometrial cancer
Ellen Stelloo,Anne M.L. Jansen,Elisabeth M. Osse,Remi A. Nout,Carien L. Creutzberg,Dina Ruano,David N. Church,David N. Church,Hans Morreau,Vthbm Smit,T. van Wezel,Tjalling Bosse +11 more
TL;DR: MSI and IHC analysis are highly concordant in endometrial cancer, and holds true for cases with subclonal loss of MMR protein expression.
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Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR.
Ronald van Eijk,Jappe Licht,Melanie Schrumpf,Mehrdad Talebian Yazdi,Dina Ruano,Giusi Irma Forte,Petra M. Nederlof,Maud Veselic,Klaus F. Rabe,Jouke T. Annema,Vincent T.H.B.M. Smit,Hans Morreau,Tom van Wezel +12 more
TL;DR: It is demonstrated that these standard molecular techniques can be accurately applied on fine needle cytological aspirates from NSCLC patients and show that all mutations detected in the histological material of primary tumor were also identified in the cytological samples.
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Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability
Dina Ruano,Gonçalo R. Abecasis,Beate Glaser,Esther S. Lips,L. Niels Cornelisse,Arthur P.H. de Jong,David M. Evans,George Davey Smith,N J Timpson,August B. Smit,Peter Heutink,Matthijs Verhage,Danielle Posthuma +12 more
TL;DR: Although alterations in synaptic signaling processes may not be the exclusive explanation for the association of heterotrimeric G proteins with cognitive ability, such alterations may prominently affect the properties of neurons in the brain in such a manner that impaired cognitive ability and lower intelligence are observed.
Journal ArticleDOI
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Fadwa A. Elsayed,C. Marleen Kets,Dina Ruano,Brendy E.W.M. van den Akker,Arjen R. Mensenkamp,Melanie Schrumpf,Maartje Nielsen,J. T. Wijnen,Carli M. J. Tops,Marjolijn J. L. Ligtenberg,Hans F. A. Vasen,Frederik J. Hes,Hans Morreau,Tom van Wezel +13 more
TL;DR: POLE DNA analysis now seems warranted in microsatellite instable CRC, especially in the absence of a causative DNA mismatch repair gene germline variant.
Journal ArticleDOI
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
Anne M.L. Jansen,Tom van Wezel,Brendy E.W.M. van den Akker,Marina Ventayol Garcia,Dina Ruano,Carli M. J. Tops,Anja Wagner,Tom G.W. Letteboer,Encarna B. Gomez-Garcia,Peter Devilee,Juul T. Wijnen,Frederik J. Hes,Hans Morreau +12 more
TL;DR: The findings suggest that faulty proofreading may result in loss of MMR and thereby in microsatellite instability in Lynch Syndrome patients.