V
Vanesa Perez-Alonso
Publications - 3
Citations - 113
Vanesa Perez-Alonso is an academic researcher. The author has contributed to research in topics: DNA damage & DNA mismatch repair. The author has an hindex of 3, co-authored 3 publications receiving 39 citations.
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Journal ArticleDOI
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
Xueqing Zou,Xueqing Zou,Gene Ching Chiek Koh,Gene Ching Chiek Koh,Arjun Scott Nanda,Andrea Degasperi,Andrea Degasperi,Katie Urgo,Theodoros I. Roumeliotis,Chukwuma A. Agu,Cherif Badja,Cherif Badja,Sophie Momen,Jamie Young,Tauanne Dias Amarante,Lucy Side,Lucy Side,Glen Brice,Vanesa Perez-Alonso,Daniel Rueda,Celine Gomez,Wendy Bushell,Rebecca Harris,Rebecca Harris,Jyoti S. Choudhary,Josef Jiricny,William C Skarne,Serena Nik-Zainal,Serena Nik-Zainal +28 more
TL;DR: A classifier, MMRDetect, was developed, where application to 7,695 WGS cancers showed enhanced detection of MMR-deficient tumors, with implications for responsiveness to immunotherapies.
Journal ArticleDOI
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Richard Gallon,Barbara Mühlegger,Sören‐Sebastian Wenzel,Harsh Sheth,C Hayes,Stefan Aretz,Karin Dahan,William D. Foulkes,Christian P. Kratz,Tim Ripperger,Amedeo A. Azizi,Hagit Baris Feldman,Anne-Laure Chong,Anne-Laure Chong,Anne-Laure Chong,Ugur Demirsoy,Benoit Florkin,Thomas Imschweiler,Danuta Januszkiewicz-Lewandowska,Stephan Lobitz,Michaela Nathrath,Hans-Jürgen Pander,Vanesa Perez-Alonso,Claudia Perne,Iman A. Ragab,Thorsten Rosenbaum,Daniel Rueda,Markus G. Seidel,Manon Suerink,Julia Taeubner,Stefanie‐Yvonne Zimmermann,Johannes Zschocke,Gillian M. Borthwick,John Burn,Michael S. Jackson,Mauro Santibanez-Koref,Katharina Wimmer +36 more
TL;DR: A simple, scalable CMMRD diagnostic assay that uses sequencing and molecular barcodes to detect low‐frequency microsatellite variants in peripheral blood leukocytes and classifies samples using variant frequencies is presented that will improve patient care, and better define the prevalence and phenotype of this likely underreported cancer syndrome.
Posted ContentDOI
Dissecting mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
Xueqing Zou,Xueqing Zou,Gene Ching Chiek Koh,Gene Ching Chiek Koh,Arjun Scott Nanda,Andrea Degasperi,Andrea Degasperi,Katie Urgo,Theodoros I. Roumeliotis,Chukwuma A. Agu,Lucy Side,Lucy Side,Glen Brice,Vanesa Perez-Alonso,Daniel Rueda,Cherif Badja,Cherif Badja,Jamie Young,Celine Gomez,Wendy Bushell,Rebecca Harris,Rebecca Harris,Jyoti S. Choudhary,Josef Jiricny,William C. Skarnes,Serena Nik-Zainal,Serena Nik-Zainal +26 more
TL;DR: A classifier, MMRDetect, is developed for improved clinical detection of MMR-deficient tumors and components of C>A transversions due to oxidative damage, T>C and C>T transitions due to differential misincorporation by replicative polymerases, and T>Atransversions for which a ‘reverse template slippage’ model is proposed.