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Barbara Rivera
Researcher at McGill University
Publications - 49
Citations - 1822
Barbara Rivera is an academic researcher from McGill University. The author has contributed to research in topics: Germline mutation & Germline. The author has an hindex of 19, co-authored 44 publications receiving 1303 citations. Previous affiliations of Barbara Rivera include Jewish General Hospital & Carlos III Health Institute.
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Journal ArticleDOI
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Leora Witkowski,Jian Carrot-Zhang,Steffen Albrecht,Somayyeh Fahiminiya,Nancy Hamel,Eva Tomiak,David Grynspan,Emmanouil Saloustros,Javad Nadaf,Barbara Rivera,Catherine Gilpin,Ester Castellsagué,Rachel Silva-Smith,François Plourde,Mona Wu,Avi Saskin,Madeleine Arseneault,Rouzan G. Karabakhtsian,Elizabeth A. Reilly,Frederick R. Ueland,Anna Margiolaki,Kitty Pavlakis,Sharon M. Castellino,Janez Lamovec,Helen J. Mackay,Lawrence M. Roth,Thomas M. Ulbright,Tracey A Bender,Vassilis Georgoulias,Michel Longy,Andrew Berchuck,Marc Tischkowitz,Inga Nagel,Reiner Siebert,Colin J.R. Stewart,Jocelyne Arseneau,W Glenn McCluggage,Blaise A. Clarke,Yasser Riazalhosseini,Martin Hasselblatt,Jacek Majewski,William D. Foulkes +41 more
TL;DR: Findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches, and at least one germline or somatic deleterious SMarCA4 mutation in 30 of 32 cases.
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Germline RECQL mutations are associated with breast cancer susceptibility
Cezary Cybulski,Jian Carrot-Zhang,Wojciech Kluźniak,Barbara Rivera,Aniruddh Kashyap,Dominika Wokołorczyk,Sylvie Giroux,Javad Nadaf,Nancy Hamel,Shiyu Zhang,Tomasz Huzarski,Jacek Gronwald,Tomasz Byrski,Marek Szwiec,Anna Jakubowska,Helena Rudnicka,Marcin Lener,Bartłomiej Masojć,Patrica N Tonin,François Rousseau,Bohdan Górski,Tadeusz Dębniak,Jacek Majewski,Jan Lubinski,William D. Foulkes,Steven A. Narod,Mohammad R. Akbari +26 more
TL;DR: It is concluded that RECQL is a breast cancer susceptibility gene implicated in resolving stalled DNA replication forks to prevent double-stranded DNA (dsDNA) breaks.
Journal ArticleDOI
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
Barbara Rivera,Tenzin Gayden,Jian Carrot-Zhang,Javad Nadaf,Talia Boshari,Damien Faury,Michele Zeinieh,Roméo Sébastien Blanc,David L. Burk,Somayyeh Fahiminiya,Eric Bareke,Ulrich Schüller,Camelia M. Monoranu,Ronald Sträter,Kornelius Kerl,Thomas Niederstadt,Gerhard Kurlemann,Benjamin Ellezam,Zuzanna Michalak,Maria Thom,Paul J. Lockhart,Richard J. Leventer,Richard J. Leventer,Milou Ohm,Duncan MacGregor,David T.W. Jones,Jason Karamchandani,Celia M. T. Greenwood,Albert M. Berghuis,Susanne Bens,Reiner Siebert,Magdalena Zakrzewska,Pawel P. Liberski,Krzysztof Zakrzewski,Sanjay M. Sisodiya,Werner Paulus,Steffen Albrecht,Martin Hasselblatt,Nada Jabado,Nada Jabado,William D. Foulkes,William D. Foulkes,Jacek Majewski +42 more
TL;DR: Constitutional and somatic FGFR1 alterations and MAP kinase pathway activation are key events in the pathogenesis of DNET and point the way towards existing targeted therapies.
Journal ArticleDOI
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
Oriol Calvete,Paula Martinez,Pablo García-Pavía,Pablo García-Pavía,Carlos Benitez-Buelga,Beatriz Paumard-Hernández,Victoria Fernández,Fernando Domínguez,Clara Salas,Nuria Romero-Laorden,Jesús García-Donas,Jaime Carrillo,Rosario Perona,Juan Carlos Triviño,Raquel Andrés,Juana María Cano,Barbara Rivera,Luis Alonso-Pulpón,Fernando Setien,Manel Esteller,Manel Esteller,Sandra Rodriguez-Perales,Gaëlle Bougeard,Tierry Frebourg,Miguel Urioste,Maria A. Blasco,Javier Benitez +26 more
TL;DR: Functional and in vitro studies demonstrate that carriers of the identified mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomerre fragility.
Journal ArticleDOI
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Judith E. Grolleman,Richarda M. de Voer,Fadwa A. Elsayed,Maartje Nielsen,Robbert D.A. Weren,Claire Palles,Marjolijn J. L. Ligtenberg,Janet R. Vos,Sanne W. ten Broeke,Noel F C C de Miranda,Renske A. Kuiper,Eveline J. Kamping,Erik A. M. Jansen,M. Elisa Vink-Börger,Isabell Popp,Alois Lang,Isabel Spier,Robert Hüneburg,Paul A. James,Na Li,Na Li,Marija Staninova,Helen Lindsay,David Cockburn,Olivera Spasic-Boskovic,Mark Clendenning,Kevin Sweet,Gabriel Capellá,Wenche Sjursen,Hildegunn Høberg-Vetti,Marjolijn C.J. Jongmans,Kornelia Neveling,Ad Geurts van Kessel,Hans Morreau,Frederik J. Hes,Rolf H. Sijmons,Hans K. Schackert,Clara Ruiz-Ponte,Dagmara Dymerska,Jan Lubinski,Barbara Rivera,William D. Foulkes,Ian Tomlinson,Laura Valle,Daniel D. Buchanan,Sue Kenwrick,Julian Adlard,Aleksandar Dimovski,Ian G. Campbell,Stefan Aretz,Detlev Schindler,Tom van Wezel,Nicoline Hoogerbrugge,Roland P. Kuiper +53 more
TL;DR: NTHL1 is revealed as a multi-tumor predisposition gene with a high lifetime risk for extracolonic cancers and a typical mutational signature observed across tumor types, which can assist in the recognition of this syndrome.