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ArticlesPeer ReviewedFull Text
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation
Author / Creator:Castroviejo‐Bermejo, Marta ; Cruz, Cristina ; Llop‐Guevara, Alba ; Gutiérrez‐Enríquez, Sara ; Ducy, Mandy ; Ibrahim, Yasir Hussein ; Gris‐Oliver, Albert ; Pellegrino, Benedetta ; Bruna, Alejandra ; Guzmán, Marta ; Rodríguez, Olga ; Grueso, Judit ; Bonache, Sandra ; Moles‐Fernández, Alejandro ; Villacampa, Guillermo ; Viaplana, Cristina ; Gómez, Patricia ; Vidal, Maria ; Peg, Vicente ; Serres‐Créixams, Xavier ; Dellaire, Graham ; Simard, Jacques ; Nuciforo, Paolo ; Rubio, Isabel T ; Dienstmann, Rodrigo ; Barrett, J Carl ; Caldas, Carlos ; Baselga, José ; Saura, Cristina ; Cortés, Javier ; Déas, Olivier ; Jonkers, Jos ; Masson, Jean‐Yves ; Cairo, Stefano ; Judde, Jean‐Gabriel ; O'Connor, Mark J ; Díez, Orland ; Balmaña, Judith ; Serra, Violeta
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2018-12, Vol.10 (12), p.1-n/a
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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
Author / Creator:Moles-Fernández, Alejandro ; Domènech-Vivó, Joanna ; Tenés, Anna ; Balmaña, Judith ; Diez, Orland ; Gutiérrez-Enríquez, Sara
Publisher:Basel: MDPI AG
Journal title:Cancers, 2021-07, Vol.13 (13), p.3341
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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Author / Creator:Hernández, Gonzalo ; Ramírez, María José ; Minguillón, Jordi ; Quiles, Paco ; Ruiz de Garibay, Gorka ; Aza-Carmona, Miriam ; Bogliolo, Massimo ; Pujol, Roser ; Prados-Carvajal, Rosario ; Fernández, Juana ; García, Nadia ; López, Adrià ; Gutiérrez-Enríquez, Sara ; Diez, Orland ; Benítez, Javier ; Salinas, Mónica ; Teulé, Alex ; Brunet, Joan ; Radice, Paolo ; Peterlongo, Paolo ; Schindler, Detlev ; Huertas, Pablo ; Puente, Xose S ; Lázaro, Conxi ; Pujana, Miquel Àngel ; Surrallés, Jordi
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-03, Vol.9 (1), p.967-11, Article 967
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
Author / Creator:Fackenthal, James D ; Yoshimatsu, Toshio ; Zhang, Bifeng ; de Garibay, Gorka R ; Colombo, Mara ; De Vecchi, Giovanna ; Ayoub, Samantha C ; Lal, Kumar ; Olopade, Olufunmilayo I ; Vega, Ana ; Santamariña, Marta ; Blanco, Ana ; Wappenschmidt, Barbara ; Becker, Alexandra ; Houdayer, Claude ; Walker, Logan C ; López-Perolio, Irene ; Thomassen, Mads ; Parsons, Michael ; Whiley, Phillip ; Blok, Marinus J ; Brandão, Rita D ; Tserpelis, Demis ; Baralle, Diana ; Montalban, Gemma ; Gutiérrez-Enríquez, Sara ; Díez, Orland ; Lazaro, Conxi ; Spurdle, Amanda B ; Radice, Paolo ; de la Hoya, Miguel
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-08, Vol.53 (8), p.548-558
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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
Author / Creator:Blanco, Ana ; de la Hoya, Miguel ; Osorio, Ana ; Diez, Orland ; Miramar, María Dolores ; Infante, Mar ; Martinez-Bouzas, Cristina ; Torres, Asunción ; Lasa, Adriana ; Llort, Gemma ; Brunet, Joan ; Graña, Begoña ; Perez Segura, Pedro ; Garcia, María José ; Gutiérrez-Enríquez, Sara ; Carracedo, Ángel ; Tejada, María-Isabel ; Velasco, Eladio A. ; Calvo, María-Teresa ; Balmaña, Judith ; Benitez, Javier ; Caldés, Trinidad ; Vega, Ana
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-07, Vol.8 (7), p.e67538-e67538
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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Author / Creator:Jain, Shantanu ; Bakolitsa, Constantina ; Brenner, Steven E. ; Radivojac, Predrag ; Moult, John ; Repo, Susanna ; Hoskins, Roger A. ; Andreoletti, Gaia ; Barsky, Daniel ; Chellapan, Ajithavalli ; Chu, Hoyin ; Dabbiru, Navya ; Kollipara, Naveen K. ; Ly, Melissa ; Neumann, Andrew J. ; Pal, Lipika R. ; Odell, Eric ; Pandey, Gaurav ; Peters-Petrulewicz, Robin C. ; Srinivasan, Rajgopal ; Yee, Stephen F. ; Yeleswarapu, Sri Jyothsna ; Zuhl, Maya ; Adebali, Ogun ; Patra, Ayoti ; Beer, Michael A. ; Hosur, Raghavendra ; Peng, Jian ; Bernard, Brady M. ; Berry, Michael ; Dong, Shengcheng ; Boyle, Alan P. ; Adhikari, Aashish ; Chen, Jingqi ; Hu, Zhiqiang ; Wang, Robert ; Wang, Yaqiong ; Miller, Maximilian ; Wang, Yanran ; Bromberg, Yana ; Turina, Paola ; Capriotti, Emidio ; Han, James J. ; Ozturk, Kivilcim ; Carter, Hannah ; Babbi, Giulia ; Bovo, Samuele ; Di Lena, Pietro ; Martelli, Pier Luigi ; Savojardo, Castrense ; Casadio, Rita ; Cline, Melissa S. ; De Baets, Greet ; Bonache, Sandra ; Díez, Orland ; Gutiérrez-Enríquez, Sara ; Fernández, Alejandro ; Montalban, Gemma ; Ootes, Lars ; Özkan, Selen ; Padilla, Natàlia ; Riera, Casandra ; De la Cruz, Xavier ; Diekhans, Mark ; Huwe, Peter J. ; Wei, Qiong ; Xu, Qifang ; Dunbrack, Roland L. ; Gotea, Valer ; Elnitski, Laura ; Margolin, Gennady ; Fariselli, Piero ; Kulakovskiy, Ivan V. ; Makeev, Vsevolod J. ; Penzar, Dmitry D. ; Vorontsov, Ilya E. ; Favorov, Alexander V. ; Forman, Julia R. ; Hasenahuer, Marcia ; Fornasari, Maria S. ; Parisi, Gustavo ; Avsec, Ziga ; Çelik, Muhammed H. ; Nguyen, Thi Yen Duong ; Gagneur, Julien ; Shi, Fang-Yuan ; Edwards, Matthew D. ; Guo, Yuchun ; Tian, Kevin ; Zeng, Haoyang ; Gifford, David K. ; Göke, Jonathan ; Zaucha, Jan ; Gough, Julian ; Ritchie, Graham R. S. ; Frankish, Adam ; Mudge, Jonathan M. ; Harrow, Jennifer ; Young, Erin L. ; Yu, Yao
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2024-02, Vol.25 (1), p.53-53, Article 53
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Clinical consequences of BRCA2 hypomorphism
Author / Creator:Castells-Roca, Laia ; Gutiérrez-Enríquez, Sara ; Bonache, Sandra ; Bogliolo, Massimo ; Carrasco, Estela ; Aza-Carmona, Miriam ; Montalban, Gemma ; Muñoz-Subirana, Núria ; Pujol, Roser ; Cruz, Cristina ; Llop-Guevara, Alba ; Ramírez, María J. ; Saura, Cristina ; Lasa, Adriana ; Serra, Violeta ; Diez, Orland ; Balmaña, Judith ; Surrallés, Jordi
Publisher:London: Nature Publishing Group UK
Journal title:NPJ breast cancer, 2021-09, Vol.7 (1), p.117-117, Article 117
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Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer
Author / Creator:de la Hoya, Miguel ; Gutierrez-Enriquez, Sara ; Velasco, Eladio ; Osorio, Ana ; de Abajo, Ana Sanchez ; Vega, Ana ; Salazar, Raquel ; Esteban, Eva ; Llort, Gemma ; Gonzalez-Sarmiento, Rogelio ; Carracedo, Angel ; Benitez, Javier ; Miner, Cristina ; Diez, Orland ; Diaz-Rubio, Eduardo ; Caldes, Trinidad
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2006-08, Vol.52 (8), p.1480-1485
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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer
Author / Creator:Montalban, Gemma ; Bonache, Sandra ; Moles-Fernández, Alejandro ; Gisbert-Beamud, Alexandra ; Tenés, Anna ; Bach, Vanessa ; Carrasco, Estela ; López-Fernández, Adrià ; Stjepanovic, Neda ; Balmaña, Judith ; Diez, Orland ; Gutiérrez-Enríquez, Sara
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-02, Vol.56 (2), p.63-74
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Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
Author / Creator:Gonzalez-Hormazabal, Patricio ; Gutierrez-Enriquez, Sara ; Gaete, Daniel ; Reyes, Jose M. ; Peralta, Octavio ; Waugh, Enrique ; Gomez, Fernando ; Margarit, Sonia ; Bravo, Teresa ; Blanco, Rafael ; Diez, Orland ; Jara, Lilian
Publisher:Boston: Springer US
Journal title:Breast cancer research and treatment, 2011-04, Vol.126 (3), p.705-716
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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
Author / Creator:Bonache, Sandra ; Esteban, Irene ; Moles-Fernández, Alejandro ; Tenés, Anna ; Duran-Lozano, Laura ; Montalban, Gemma ; Bach, Vanessa ; Carrasco, Estela ; Gadea, Neus ; López-Fernández, Adrià ; Torres-Esquius, Sara ; Mancuso, Francesco ; Caratú, Ginevra ; Vivancos, Ana ; Tuset, Noemí ; Balmaña, Judith ; Gutiérrez-Enríquez, Sara ; Diez, Orland
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of cancer research and clinical oncology, 2018-12, Vol.144 (12), p.2495-2513
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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Author / Creator:Feliubadaló, Lidia ; Moles-Fernández, Alejandro ; Santamariña-Pena, Marta ; Sánchez, Alysson T ; López-Novo, Anael ; Porras, Luz-Marina ; Blanco, Ana ; Capellá, Gabriel ; de la Hoya, Miguel ; Molina, Ignacio J ; Osorio, Ana ; Pineda, Marta ; Rueda, Daniel ; de la Cruz, Xavier ; Diez, Orland ; Ruiz-Ponte, Clara ; Gutiérrez-Enríquez, Sara ; Vega, Ana ; Lázaro, Conxi
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2021-03, Vol.67 (3), p.518-533
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The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models
Author / Creator:Herencia-Ropero, Andrea ; Llop-Guevara, Alba ; Staniszewska, Anna D. ; Domènech-Vivó, Joanna ; García-Galea, Eduardo ; Moles-Fernández, Alejandro ; Pedretti, Flaminia ; Domènech, Heura ; Rodríguez, Olga ; Guzmán, Marta ; Arenas, Enrique J. ; Verdaguer, Helena ; Calero-Nieto, Fernando J. ; Talbot, Sara ; Tobalina, Luis ; Leo, Elisabetta ; Lau, Alan ; Nuciforo, Paolo ; Dienstmann, Rodrigo ; Macarulla, Teresa ; Arribas, Joaquín ; Díez, Orland ; Gutiérrez-Enríquez, Sara ; Forment, Josep V. ; O’Connor, Mark J. ; Albertella, Mark ; Balmaña, Judith ; Serra, Violeta
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2024-08, Vol.16 (1), p.107-17, Article 107
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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
Author / Creator:Bonache, Sandra ; de la Hoya, Miguel ; Gutierrez-Enriquez, Sara ; Tenés, Anna ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of cancer research and clinical oncology, 2013-03, Vol.139 (3), p.529-532
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RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families
Author / Creator:Blanco, Ana ; Gutiérrez-Enríquez, Sara ; Santamariña, Marta ; Montalban, Gemma ; Bonache, Sandra ; Balmaña, Judith ; Carracedo, Ángel ; Diez, Orland ; Vega, Ana
Publisher:New York: Springer US
Journal title:Breast cancer research and treatment, 2014-08, Vol.147 (1), p.133-143
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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing
Author / Creator:Whiley, Phillip J ; de la Hoya, Miguel ; Thomassen, Mads ; Becker, Alexandra ; Brandão, Rita ; Pedersen, Inge Sokilde ; Montagna, Marco ; Menéndez, Mireia ; Quiles, Francisco ; Gutiérrez-Enríquez, Sara ; De Leeneer, Kim ; Tenés, Anna ; Montalban, Gemma ; Tserpelis, Demis ; Yoshimatsu, Toshio ; Tirapo, Carole ; Raponi, Michela ; Caldes, Trinidad ; Blanco, Ana ; Santamariña, Marta ; Guidugli, Lucia ; de Garibay, Gorka Ruiz ; Wong, Ming ; Tancredi, Mariella ; Fachal, Laura ; Ding, Yuan Chun ; Kruse, Torben ; Lattimore, Vanessa ; Kwong, Ava ; Chan, Tsun Leung ; Colombo, Mara ; De Vecchi, Giovanni ; Caligo, Maria ; Baralle, Diana ; Lázaro, Conxi ; Couch, Fergus ; Radice, Paolo ; Southey, Melissa C ; Neuhausen, Susan ; Houdayer, Claude ; Fackenthal, Jim ; Hansen, Thomas Van Overeem ; Vega, Ana ; Diez, Orland ; Blok, Rien ; Claes, Kathleen ; Wappenschmidt, Barbara ; Walker, Logan ; Spurdle, Amanda B ; Brown, Melissa A
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.341-352
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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
Author / Creator:Duran-Lozano, Laura ; Montalban, Gemma ; Bonache, Sandra ; Moles-Fernández, Alejandro ; Tenés, Anna ; Castroviejo-Bermejo, Marta ; Carrasco, Estela ; López-Fernández, Adrià ; Torres-Esquius, Sara ; Gadea, Neus ; Stjepanovic, Neda ; Balmaña, Judith ; Gutiérrez-Enríquez, Sara ; Diez, Orland
Publisher:New York: Springer US
Journal title:Breast cancer research and treatment, 2019-04, Vol.174 (2), p.543-550
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A data science approach for early-stage prediction of Patient's susceptibility to acute side effects of advanced radiotherapy
Author / Creator:Aldraimli, Mahmoud ; Soria, Daniele ; Grishchuck, Diana ; Ingram, Samuel ; Lyon, Robert ; Mistry, Anil ; Oliveira, Jorge ; Samuel, Robert ; Shelley, Leila E.A ; Osman, Sarah ; Dwek, Miriam V ; Azria, David ; Chang-Claude, Jenny ; Gutiérrez-Enríquez, Sara ; De Santis, Maria Carmen ; Rosenstein, Barry S ; De Ruysscher, Dirk ; Sperk, Elena ; Symonds, R. Paul ; Stobart, Hilary ; Vega, Ana ; Veldeman, Liv ; Webb, Adam ; Talbot, Christopher J ; West, Catharine M ; Rattay, Tim ; Chaussalet, Thierry J
Publisher:Oxford: Elsevier Ltd
Journal title:Computers in biology and medicine, 2021-08, Vol.135, p.104624-104624, Article 104624
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Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer
Author / Creator:Torres-Esquius, Sara ; Llop-Guevara, Alba ; Gutiérrez-Enríquez, Sara ; Romey, Marcel ; Teulé, Àlex ; Llort, Gemma ; Herrero, Ana ; Sánchez-Henarejos, Pilar ; Vallmajó, Anna ; González-Santiago, Santiago ; Chirivella, Isabel ; Cano, Juana Maria ; Graña, Begoña ; Simonetti, Sara ; Díaz de Corcuera, Isabela ; Ramon y Cajal, Teresa ; Sanz, Judit ; Serrano, Sara ; Otero, Andrea ; Churruca, Cristina ; Sánchez-Heras, Ana Beatriz ; Servitja, Sonia ; Guillén-Ponce, Carmen ; Brunet, Joan ; Denkert, Carsten ; Serra, Violeta ; Balmaña, Judith
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2024-04, Vol.7 (4), p.e247811
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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
Author / Creator:Thomassen, Mads ; Blanco, Ana ; Montagna, Marco ; Hansen, Thomas V. O. ; Pedersen, Inge S. ; Gutiérrez-Enríquez, Sara ; Menéndez, Mireia ; Fachal, Laura ; Santamariña, Marta ; Steffensen, Ane Y. ; Jønson, Lars ; Agata, Simona ; Whiley, Phillip ; Tognazzo, Silvia ; Tornero, Eva ; Jensen, Uffe B. ; Balmaña, Judith ; Kruse, Torben A. ; Goldgar, David E. ; Lázaro, Conxi ; Diez, Orland ; Spurdle, Amanda B. ; Vega, Ana
Publisher:Boston: Springer US
Journal title:Breast cancer research and treatment, 2012-04, Vol.132 (3), p.1009-1023
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Showing 1 to 20 of 41 results

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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

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Clinical consequences of BRCA2 hypomorphism

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Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer

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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

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Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families

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

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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

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The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models

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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families

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RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

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

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A data science approach for early-stage prediction of Patient's susceptibility to acute side effects of advanced radiotherapy

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Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer

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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

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