Estela Carrasco

Pregnancy After Breast Cancer in Patients With Germline Mutations.

J Clin Oncol 2020 Sep 16;38(26):3012-3023. Epub 2020 Jul 16.

Tecnologico de Monterrey, Centro de Cancer de Mama del Hospital Zambrano Hellion, Nuevo Leon, Mexico.

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http://dx.doi.org/10.1200/JCO.19.02399	DOI Listing

September 2020

Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.

Authors:

María José Ramírez Jordi Minguillón Sara Loveless Kelly Lake Estela Carrasco Neda Stjepanovic Judith Balmaña Albert Català Parinda A Mehta Jordi Surrallés

Cancer Lett 2020 03 10;472:1-7. Epub 2019 Dec 10.

Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Sant Pau Biomedical Research Institute, Sant Pau Hospital, Barcelona, Spain; Department of Genetics, Sant Pau Hospital, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.canlet.2019.12.008	DOI Listing

March 2020

Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.

Authors:

Vivek L Patel Evan L Busch Tara M Friebel Angel Cronin Goska Leslie Lesley McGuffog Julian Adlard Simona Agata Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Elisa Alducci Irene L Andrulis Adalgeir Arason Norbert Arnold Grazia Artioli Brita Arver Bernd Auber Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel R Barnes Alicia Barroso Daniel Barrowdale Muriel Belotti Javier Benitez Birgitte Bertelsen Marinus J Blok Istvan Bodrogi Valérie Bonadona Bernardo Bonanni Davide Bondavalli Susanne E Boonen Julika Borde Ake Borg Angela R Bradbury Angela Brady Carole Brewer Joan Brunet Bruno Buecher Saundra S Buys Santiago Cabezas-Camarero Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Ian G Campbell Ileana Carnevali Estela Carrasco Tsun L Chan Annie T W Chu Wendy K Chung Kathleen B M Claes Gemo Study Collaborators Embrace Collaborators Jackie Cook Laura Cortesi Fergus J Couch Mary B Daly Giuseppe Damante Esther Darder Rosemarie Davidson Miguel de la Hoya Lara Della Puppa Joe Dennis Orland Díez Yuan Chun Ding Nina Ditsch Susan M Domchek Alan Donaldson Bernd Dworniczak Douglas F Easton Diana M Eccles Rosalind A Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel D Gareth Evans Laurence Faivre Ulrike Faust Lídia Feliubadaló Lenka Foretova Florentia Fostira George Fountzilas Debra Frost Vanesa García-Barberán Pilar Garre Marion Gauthier-Villars Lajos Géczi Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Angelica M Gutierrez-Barrera Eric Hahnen Ute Hamann Jan Hauke Natalie Herold Frans B L Hogervorst Ellen Honisch John L Hopper Peter J Hulick KConFab Investigators Hebon Investigators Louise Izatt Agnes Jager Paul James Ramunas Janavicius Uffe Birk Jensen Thomas Dyrso Jensen Oskar Th Johannsson Esther M John Vijai Joseph Eunyoung Kang Karin Kast Johanna I Kiiski Sung-Won Kim Zisun Kim Kwang-Pil Ko Irene Konstantopoulou Gero Kramer Lotte Krogh Torben A Kruse Ava Kwong Mirjam Larsen Christine Lasset Charlotte Lautrup Conxi Lazaro Jihyoun Lee Jong Won Lee Min Hyuk Lee Johannes Lemke Fabienne Lesueur Annelie Liljegren Annika Lindblom Patricia Llovet Adria Lopez-Fernández Irene Lopez-Perolio Victor Lorca Jennifer T Loud Edmond S K Ma Phuong L Mai Siranoush Manoukian Veronique Mari Lynn Martin Laura Matricardi Noura Mebirouk Veronica Medici Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Clare Miller Denise Molina Gomes Marco Montagna Thea M Mooij Lidia Moserle Emmanuelle Mouret-Fourme Anna Marie Mulligan Katherine L Nathanson Marie Navratilova Heli Nevanlinna Dieter Niederacher Finn C Cilius Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Ana Osorio Claus-Eric Ott Domenico Palli Sue K Park Michael T Parsons Inge Sokilde Pedersen Bernard Peissel Ana Peixoto Pedro Pérez-Segura Paolo Peterlongo Annabeth Høgh Petersen Mary E Porteous Miguel Angel Pujana Paolo Radice Juliane Ramser Johanna Rantala Muhammad U Rashid Kerstin Rhiem Piera Rizzolo Mark E Robson Matti A Rookus Caroline M Rossing Kathryn J Ruddy Catarina Santos Claire Saule Rosa Scarpitta Rita K Schmutzler Hélène Schuster Leigha Senter Caroline M Seynaeve Payal D Shah Priyanka Sharma Vivian Y Shin Valentina Silvestri Jacques Simard Christian F Singer Anne-Bine Skytte Katie Snape Angela R Solano Penny Soucy Melissa C Southey Amanda B Spurdle Linda Steele Doris Steinemann Dominique Stoppa-Lyonnet Agostina Stradella Lone Sunde Christian Sutter Yen Y Tan Manuel R Teixeira Soo Hwang Teo Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Stefania Tommasi Diana Torres Angela Toss Alison H Trainer Nadine Tung Christi J van Asperen Frederieke H van der Baan Lizet E van der Kolk Rob B van der Luijt Liselotte P van Hest Liliana Varesco Raymonda Varon-Mateeva Alessandra Viel Jeroen Vierstraete Roberta Villa Anna von Wachenfeldt Philipp Wagner Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Siddhartha Yadav Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Kristin K Zorn Anthony V D'Amico Matthew L Freedman Mark M Pomerantz Georgia Chenevix-Trench Antonis C Antoniou Susan L Neuhausen Laura Ottini Henriette Roed Nielsen Timothy R Rebbeck

Cancer Res 2020 02 13;80(3):624-638. Epub 2019 Nov 13.

Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

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http://dx.doi.org/10.1158/0008-5472.CAN-19-1840	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553241	PMC

February 2020

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Authors:

Massimo Bogliolo Roser Pujol Miriam Aza-Carmona Núria Muñoz-Subirana Benjamin Rodriguez-Santiago José Antonio Casado Paula Rio Christopher Bauser Judith Reina-Castillón Marcos Lopez-Sanchez Lidia Gonzalez-Quereda Pia Gallano Albert Catalá Ana Ruiz-Llobet Isabel Badell Cristina Diaz-Heredia Raquel Hladun Leonort Senent Bienvenida Argiles Juan Miguel Bergua Burgues Fatima Bañez Beatriz Arrizabalaga Ricardo López Almaraz Monica Lopez Ángela Figuera Antonio Molinés Inmaculada Pérez de Soto Inés Hernando Juan Antonio Muñoz Maria Del Rosario Marin Judith Balmaña Neda Stjepanovic Estela Carrasco Isabel Cuesta José Miguel Cosuelo Alexandra Regueiro José Moraleda Jimenez Ana Maria Galera-Miñarro Laura Rosiñol Anna Carrió Cristina Beléndez-Bieler Antonio Escudero Soto Elena Cela Gregorio de la Mata Rafael Fernández-Delgado Maria Carmen Garcia-Pardos Raquel Sáez-Villaverde Marta Barragaño Raquel Portugal Francisco Lendinez Ines Hernadez José Manue Vagace Maria Tapia José Nieto Marta Garcia Macarena Gonzalez Cristina Vicho Eva Galvez Alberto Valiente Maria Luisa Antelo Phil Ancliff Francisco Garcia Joaquin Dopazo Julian Sevilla Tobias Paprotka Luis Alberto Pérez-Jurado Juan Bueren Jordi Surralles

J Med Genet 2020 04 5;57(4):258-268. Epub 2019 Oct 5.

Department of Genetics, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2019-106249	DOI Listing

April 2020

Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Authors:

Gemma Montalban Sandra Bonache Alejandro Moles-Fernández Neus Gadea Anna Tenés Sara Torres-Esquius Estela Carrasco Judith Balmaña Orland Diez Sara Gutiérrez-Enríquez

Hum Mutat 2019 12 26;40(12):2296-2317. Epub 2019 Aug 26.

Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23882	DOI Listing

December 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:

Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163	PMC

September 2019

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

Authors:

Laura Duran-Lozano Gemma Montalban Sandra Bonache Alejandro Moles-Fernández Anna Tenés Marta Castroviejo-Bermejo Estela Carrasco Adrià López-Fernández Sara Torres-Esquius Neus Gadea Neda Stjepanovic Judith Balmaña Sara Gutiérrez-Enríquez Orland Diez

Breast Cancer Res Treat 2019 Apr 14;174(2):543-550. Epub 2018 Dec 14.

Oncogenetics Group, Vall d'Hebron Institute of Oncology, VHIO, 08035, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10549-018-05094-8	DOI Listing

April 2019

Screening of deep intronic regions by targeted gene sequencing identifies the first germline variant causing pseudoexon activation in a patient with breast/ovarian cancer.

Authors:

Gemma Montalban Sandra Bonache Alejandro Moles-Fernández Alexandra Gisbert-Beamud Anna Tenés Vanessa Bach Estela Carrasco Adrià López-Fernández Neda Stjepanovic Judith Balmaña Orland Diez Sara Gutiérrez-Enríquez

J Med Genet 2019 02 24;56(2):63-74. Epub 2018 Nov 24.

Oncogenetics Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2018-105606	DOI Listing

February 2019

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Authors:

Sandra Bonache Irene Esteban Alejandro Moles-Fernández Anna Tenés Laura Duran-Lozano Gemma Montalban Vanessa Bach Estela Carrasco Neus Gadea Adrià López-Fernández Sara Torres-Esquius Francesco Mancuso Ginevra Caratú Ana Vivancos Noemí Tuset Judith Balmaña Sara Gutiérrez-Enríquez Orland Diez

J Cancer Res Clin Oncol 2018 Dec 10;144(12):2495-2513. Epub 2018 Oct 10.

Oncogenetics Group, Vall d'Hebron Institute of Oncology-VHIO, Lab 2.02A, CELLEX CENTER, c/Natzaret, 115-117, 08035, Barcelona, Catalonia, Spain.

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http://link.springer.com/10.1007/s00432-018-2763-9	Publisher Site
http://dx.doi.org/10.1007/s00432-018-2763-9	DOI Listing

December 2018

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Front Genet 2018 5;9:366. Epub 2018 Sep 5.

Oncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.

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http://dx.doi.org/10.3389/fgene.2018.00366	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134256	PMC

September 2018

Characterization of the Small RNA Transcriptome of the Marine Coccolithophorid, Emiliania huxleyi.

Authors:

Xiaoyu Zhang Jaime Gamarra Steven Castro Estela Carrasco Aaron Hernandez Thomas Mock Ahmad R Hadaegh Betsy A Read

PLoS One 2016 21;11(4):e0154279. Epub 2016 Apr 21.

Department of Biological Sciences, California State University, San Marcos, CA, 92096, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0154279	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839659	PMC

March 2017

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

Fam Cancer 2015 Dec;14(4):505-13

Laboratory of Molecular Biology, Service of Clinical Analysis, University and Polytechnic Hospital La Fe, Escuela de Enfermería 7ª planta. Avd. Campanar 21, Valencia, 46009, Spain.

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