Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 49 Records) |
| Query Trace: Disease and RAD51C[original query] |
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| Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene. Cancers 2020 12 12 (12): . Sanoguera-Miralles Lara, Valenzuela-Palomo Alberto, Bueno-Martínez Elena, Llovet Patricia, Díez-Gómez Beatriz, Caloca María José, Pérez-Segura Pedro, Fraile-Bethencourt Eugenia, Colmena Marta, Carvalho Sara, Allen Jamie, Easton Douglas F, Devilee Peter, Vreeswijk Maaike P G, de la Hoya Miguel, Velasco Eladio |
| Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Human mutation 2020 Dec . Felicio Paula S, Grasel Rebeca S, Campacci Natalia, de Paula Andre E, Galvão Henrique C R, Torrezan Giovana T, Sabato Cristina S, Fernandes Gabriela C, Souza Cristiano P, Michelli Rodrigo D, Andrade Carlos E, Barros Bruna Durães De Figueiredo, Matsushita Marcus M, Revil Timothée, Ragoussis Jiannis, Couch Fergus J, Hart Steven N, Reis Rui M, Melendez Matias E, Tonin Patricia N, Carraro Dirce M, Palmero Edenir |
| Mutations in DNA Repair Genes and Clinical Outcomes of Patients With Metastatic Colorectal Cancer Receiving Oxaliplatin or Irinotecan-containing Regimens. American journal of clinical oncology 2020 Dec . Marks Eric I, Matera Robert, Olszewski Adam J, Yakirevich Evgeny, El-Deiry Wafik S, Safran Howard, Carneiro Benedito |
| Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Oct . Yadav Siddhartha, Kasi Pashtoon M, Bamlet William R, Ho Thanh P, Polley Eric C, Hu Chunling, Hart Steven N, Rabe Kari G, Boddicker Nicholas J, Gnanaolivu Rohan D, Lee Kun Y, Lindstrom Tricia H, Petersen Gloria M, Couch Fergus J, McWilliams Robert |
| Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2. Cancers 2020 10 12 (10): . Barbosa Ana, Pinto Pedro, Peixoto Ana, Guerra Joana, Pinto Carla, Santos Catarina, Pinheiro Manuela, Escudeiro Carla, Bartosch Carla, Silva João, Teixeira Manuel |
| Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer. Cancers 2020 Oct 12 (10): . Pavanello Marina, Chan Isaac Hy, Ariff Amir, Pharoah Paul Dp, Gayther Simon A, Ramus Susan |
| Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions. International journal of molecular sciences 2021 Jul 22 (14): . Guglielmi Chiara, Scarpitta Rosa, Gambino Gaetana, Conti Eleonora, Bellè Francesca, Tancredi Mariella, Cervelli Tiziana, Falaschi Elisabetta, Cosini Cinzia, Aretini Paolo, Congregati Caterina, Marino Marco, Patruno Margherita, Pilato Brunella, Spina Francesca, Balestrino Luisa, Tenedini Elena, Carnevali Ileana, Cortesi Laura, Tagliafico Enrico, Tibiletti Maria Grazia, Tommasi Stefania, Ghilli Matteo, Vivanet Caterina, Galli Alvaro, Caligo Maria Adelai |
| Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma. Gastroenterology 2021 2 160 (6): 2119-2132.e9. Golan Talia, O'Kane Grainne M, Denroche Robert E, Raitses-Gurevich Maria, Grant Robert C, Holter Spring, Wang Yifan, Zhang Amy, Jang Gun Ho, Stossel Chani, Atias Dikla, Halperin Sharon, Berger Raanan, Glick Yulia, Park J Patrick, Cuggia Adeline, Williamson Laura, Wong Hui-Li, Schaeffer David F, Renouf Daniel J, Borgida Ayelet, Dodd Anna, Wilson Julie M, Fischer Sandra E, Notta Faiyaz, Knox Jennifer J, Zogopoulos George, Gallinger Stev |
| Germline breast cancer susceptibility genes, tumor characteristics, and survival. Genome medicine 2021 Dec 13 (1): 185. Ho Peh Joo, Khng Alexis J, Loh Hui Wen, Ho Weang-Kee, Yip Cheng Har, Mohd-Taib Nur Aishah, Tan Veronique Kiak Mien, Tan Benita Kiat-Tee, Tan Su-Ming, Tan Ern Yu, Lim Swee Ho, Jamaris Suniza, Sim Yirong, Wong Fuh Yong, Ngeow Joanne, Lim Elaine Hsuen, Tai Mei Chee, Wijaya Eldarina Azfar, Lee Soo Chin, Chan Ching Wan, Buhari Shaik Ahmad, Chan Patrick M Y, Chen Juliana J C, Seah Jaime Chin Mui, Lee Wai Peng, Mok Chi Wei, Lim Geok Hoon, Woo Evan, Kim Sung-Won, Lee Jong Won, Lee Min Hyuk, Park Sue K, Dunning Alison M, Easton Douglas F, Schmidt Marjanka K, Teo Soo-Hwang, Li Jingmei, Hartman Mika |
| Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clinical and translational gastroenterology 2021 Oct 12 (10): e00414. Uson Pedro L S, Samadder N Jewel, Riegert-Johnson Douglas, Boardman Lisa, Borad Mitesh J, Ahn Daniel, Sonbol Mohamad B, Faigel Douglas O, Fukami Norio, Pannala Rahul, Kunze Katie, Golafshar Michael, Klint Margaret, Esplin Edward D, Nussbaum Robert L, Stewart A Keith, Bekaii-Saab Tani |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. The New England journal of medicine 2021 Jan . , Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Luccarini Craig, Wahlström Cecilia, Pooley Karen A, Parsons Michael T, Fortuno Cristina, Wang Qin, Bolla Manjeet K, Dennis Joe, Keeman Renske, Alonso M Rosario, Álvarez Nuria, Herraez Belen, Fernandez Victoria, Núñez-Torres Rocio, Osorio Ana, Valcich Jeanette, Li Minerva, Törngren Therese, Harrington Patricia A, Baynes Caroline, Conroy Don M, Decker Brennan, Fachal Laura, Mavaddat Nasim, Ahearn Thomas, Aittomäki Kristiina, Antonenkova Natalia N, Arnold Norbert, Arveux Patrick, Ausems Margreet G E M, Auvinen Päivi, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Bermisheva Marina, Bia?kowska Katarzyna, Blomqvist Carl, Bogdanova Natalia V, Bogdanova-Markov Nadja, Bojesen Stig E, Bonanni Bernardo, Børresen-Dale Anne-Lise, Brauch Hiltrud, Bremer Michael, Briceno Ignacio, Brüning Thomas, Burwinkel Barbara, Cameron David A, Camp Nicola J, Campbell Archie, Carracedo Angel, Castelao Jose E, Cessna Melissa H, Chanock Stephen J, Christiansen Hans, Collée J Margriet, Cordina-Duverger Emilie, Cornelissen Sten, Czene Kamila, Dörk Thilo, Ekici Arif B, Engel Christoph, Eriksson Mikael, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Försti Asta, Gabrielson Marike, Gago-Dominguez Manuela, Georgoulias Vassilios, Gil Fabian, Giles Graham G, Glendon Gord, Garcia Encarna B Gómez, Alnæs Grethe I Grenaker, Guénel Pascal, Hadjisavvas Andreas, Haeberle Lothar, Hahnen Eric, Hall Per, Hamann Ute, Harkness Elaine F, Hartikainen Jaana M, Hartman Mikael, He Wei, Heemskerk-Gerritsen Bernadette A M, Hillemanns Peter, Hogervorst Frans B L, Hollestelle Antoinette, Ho Weang Kee, Hooning Maartje J, Howell Anthony, Humphreys Keith, Idris Faiza, Jakubowska Anna, Jung Audrey, Kapoor Pooja Middha, Kerin Michael J, Khusnutdinova Elza, Kim Sung-Won, Ko Yon-Dschun, Kosma Veli-Matti, Kristensen Vessela N, Kyriacou Kyriacos, Lakeman Inge M M, Lee Jong Won, Lee Min Hyuk, Li Jingmei, Lindblom Annika, Lo Wing-Yee, Loizidou Maria A, Lophatananon Artitaya, Lubi?ski Jan, MacInnis Robert J, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Martinez Maria Elena, Maurer Tabea, Mavroudis Dimitrios, McLean Catriona, Meindl Alfons, Mensenkamp Arjen R, Michailidou Kyriaki, Miller Nicola, Mohd Taib Nur Aishah, Muir Kenneth, Mulligan Anna Marie, Nevanlinna Heli, Newman William G, Nordestgaard Børge G, Ng Pei-Sze, Oosterwijk Jan C, Park Sue K, Park-Simon Tjoung-Won, Perez Jose I A, Peterlongo Paolo, Porteous David J, Prajzendanc Karolina, Prokofyeva Darya, Radice Paolo, Rashid Muhammad U, Rhenius Valerie, Rookus Matti A, Rüdiger Thomas, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Schneeweiss Andreas, Schürmann Peter, Shah Mitul, Sohn Christof, Southey Melissa C, Surowy Harald, Suvanto Maija, Thanasitthichai Somchai, Tomlinson Ian, Torres Diana, Truong Thérèse, Tzardi Maria, Valova Yana, van Asperen Christi J, Van Dam Rob M, van den Ouweland Ans M W, van der Kolk Lizet E, van Veen Elke M, Wendt Camilla, Williams Justin A, Yang Xiaohong R, Yoon Sook-Yee, Zamora M Pilar, Evans D Gareth, de la Hoya Miguel, Simard Jacques, Antoniou Antonis C, Borg Åke, Andrulis Irene L, Chang-Claude Jenny, García-Closas Montserrat, Chenevix-Trench Georgia, Milne Roger L, Pharoah Paul D P, Schmidt Marjanka K, Spurdle Amanda B, Vreeswijk Maaike P G, Benitez Javier, Dunning Alison M, Kvist Anders, Teo Soo H, Devilee Peter, Easton Douglas |
| Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor. Hereditary cancer in clinical practice 2022 3 20 (1): 11. Ogrodniczak Alicja, Menkiszak Janusz, Gronwald Jacek, Tomiczek-Szwiec Joanna, Szwiec Marek, Cybulski Cezary, D?bniak Tadeusz, Huzarski Tomasz, To?oczko-Grabarek Aleksandra, Byrski Tomasz, Bia?kowska Katarzyna, Prajzendanc Karolina, Baszuk Piotr, Lubi?ski Jan, Jakubowska An |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
| Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer. JAMA network open 2022 Dec 5 (12): e2245836. Liu Ze-Xian, Zhang Xiao-Long, Zhao Qi, Chen Yungchang, Sheng Hui, He Cai-Yun, Sun Yu-Ting, Lai Ming-Yu, Wu Min-Qing, Zuo Zhi-Xiang, Wang Wei, Zhou Zhi-Wei, Wang Feng-Hua, Li Yu-Hong, Xu Rui-Hua, Qiu Miao-Zh |
| Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial. Journal of personalized medicine 2022 10 12 (10): . Bonnet Elise, Haddad Véronique, Quesada Stanislas, Baffert Kim-Arthur, Lardy-Cléaud Audrey, Treilleux Isabelle, Pissaloux Daniel, Attignon Valéry, Wang Qing, Buisson Adrien, Heudel Pierre-Etienne, Bachelot Thomas, Dufresne Armelle, Eberst Lauriane, Toussaint Philippe, Bonadona Valérie, Lasset Christine, Viari Alain, Sohier Emilie, Paindavoine Sandrine, Combaret Valérie, Pérol David, Ray-Coquard Isabelle, Blay Jean-Yves, Trédan Olivi |
| Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing? International journal of molecular sciences 2022 10 23 (19): . Infante Mar, Arranz-Ledo Mónica, Lastra Enrique, Abella Luis Enrique, Ferreira Raquel, Orozco Marta, Hernández Lara, Martínez Noemí, Durán Merced |
| Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci. Journal of the National Cancer Institute 2022 Oct . DeVries Amber A, Dennis Joe, Tyrer Jonathan P, Peng Pei-Chen, Coetzee Simon G, Reyes Alberto L, Plummer Jasmine T, Davis Brian D, Chen Stephanie S, Dezem Felipe Segato, Aben Katja K H, Anton-Culver Hoda, Antonenkova Natalia N, Beckmann Matthias W, Beeghly-Fadiel Alicia, Berchuck Andrew, Bogdanova Natalia V, Bogdanova-Markov Nadja, Brenton James D, Butzow Ralf, Campbell Ian, Chang-Claude Jenny, Chenevix-Trench Georgia, Cook Linda S, DeFazio Anna, Doherty Jennifer A, Dörk Thilo, Eccles Diana M, Eliassen A Heather, Fasching Peter A, Fortner Renée T, Giles Graham G, Goode Ellen L, Goodman Marc T, Gronwald Jacek, , , Håkansson Niclas, Hildebrandt Michelle A T, Huff Chad, Huntsman David G, Jensen Allan, Kar Siddhartha, Karlan Beth Y, Khusnutdinova Elza K, Kiemeney Lambertus A, Kjaer Susanne K, Kupryjanczyk Jolanta, Labrie Marilyne, Lambrechts Diether, Le Nhu D, Lubi?ski Jan, May Taymaa, Menon Usha, Milne Roger L, Modugno Francesmary, Monteiro Alvaro N, Moysich Kirsten B, Odunsi Kunle, Olsson Håkan, Pearce Celeste L, Pejovic Tanja, Ramus Susan J, Riboli Elio, Riggan Marjorie J, Romieu Isabelle, Sandler Dale P, Schildkraut Joellen M, Setiawan V Wendy, Sieh Weiva, Song Honglin, Sutphen Rebecca, Terry Kathryn L, Thompson Pamela J, Titus Linda, Tworoger Shelley S, Van Nieuwenhuysen Els, Edwards Digna Velez, Webb Penelope M, Wentzensen Nicolas, Whittemore Alice S, Wolk Alicja, Wu Anna H, Ziogas Argyrios, Freedman Matthew L, Lawrenson Kate, Pharoah Paul D P, Easton Douglas F, Gayther Simon A, Jones Michelle |
| Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. JAMA oncology 2022 Jan . , Mavaddat Nasim, Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Keeman Renske, Bolla Manjeet K, Dennis Joe, Wang Qin, Ahearn Thomas U, Andrulis Irene L, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Briceno Ignacio, Brüning Thomas, Camp Nicola J, Campbell Archie, Castelao Jose E, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, Christiansen Hans, Czene Kamila, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gabrielson Marike, Gago-Dominguez Manuela, Geisler Jürgen, Giles Graham G, Guénel Pascal, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Hartikainen Jaana M, Hartman Mikael, Hoppe Reiner, Howell Anthony, Jakubowska Anna, Jung Audrey, Khusnutdinova Elza K, Kristensen Vessela N, Li Jingmei, Lim Swee Ho, Lindblom Annika, Loizidou Maria A, Lophatananon Artitaya, Lubinski Jan, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mohd Taib Nur Aishah, Morra Anna, Muir Kenneth, Obi Nadia, Osorio Ana, Park-Simon Tjoung-Won, Peterlongo Paolo, Radice Paolo, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sim Xueling, Southey Melissa C, Thorne Heather, Tomlinson Ian, Torres Diana, Truong Thérèse, Yip Cheng Har, Spurdle Amanda B, Vreeswijk Maaike P G, Dunning Alison M, García-Closas Montserrat, Pharoah Paul D P, Kvist Anders, Muranen Taru A, Nevanlinna Heli, Teo Soo Hwang, Devilee Peter, Schmidt Marjanka K, Easton Douglas |
| Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria. Human mutation 2022 Feb . James Paul A, Fortuno Cristina, Li Na, Lim Belle W X, Campbell Ian G, Spurdle Amanda |
| Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. PLoS genetics 2023 8 19 (8): e1010889. Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylk |
| A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer. Journal of cancer research and clinical oncology 2023 8 . Qiao-Yan Zhu, Pu-Chun Li, Yi-Fan Zhu, Jia-Ni Pan, Rong Wang, Xiao-Lin Li, Wei-Wu Ye, Xiao-Wen Ding, Xiao-Jia Wang, Wen-Ming C |
| Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort. Cancers 2023 7 15 (13): . Ahmed Bouras, Souhir Guidara, Mélanie Leone, Adrien Buisson, Tanguy Martin-Denavit, Sophie Dussart, Christine Lasset, Sophie Giraud, Marie-Noëlle Bonnet-Dupeyron, Zine-Eddine Kherraf, Damien Sanlaville, Sandra Fert-Ferrer, Marine Lebrun, Valerie Bonadona, Alain Calender, Nadia Boutry-Kry |
| Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients. Genes, chromosomes & cancer 2023 7 . Paula Paulo, Marta Cardoso, Andreia Brandão, Pedro Pinto, Ariane Falconi, Manuela Pinheiro, Nuno Cerveira, Rui Silva, Catarina Santos, Carla Pinto, Ana Peixoto, Sofia Maia, Manuel R Teixei |
| The Association Between Breast Cancer Predisposing Genetic Variants and Multifocal, Multicentric Breast Cancer. Annals of surgical oncology 2024 9 . Mahtab Vasigh, Ahmed Mohamed, Lisa Jacobs, Julie Lange, Melissa Camp, Bonnie Sun, Pamela Wright, Maureen O'Donnell, Hanh-Tam Tran, Olutayo Sogunro, Mehran Habibi, Fabian Johnston, David Euh |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing. Annals of oncology : official journal of the European Society for Medical Oncology 2024 7 . C F Rowlands, S Allen, J Balmaña, S M Domchek, D G Evans, H Hanson, N Hoogerbrugge, P A James, K Nathanson, M Robson, M Tischkowitz, W D Foulkes, C Turnbu |
| Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. International journal of molecular sciences 2024 12 25 (23): . Petra Nagy, János Papp, Vince Kornél Grolmusz, Anikó Bozsik, Tímea Pócza, Edit Oláh, Attila Patócs, Henriett Bu |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| Prevalence and outcomes of germline pathogenic variants of homologous recombination repair genes in ovarian cancer. Cancer science 2024 10 . Maiko Miwa, Masakazu Kitagawa, Yuka Asami, Mayumi Kobayashi-Kato, Takafumi Watanabe, Aiko Ogasawara, Kengo Hiranuma, Hisamori Kato, Motonobu Saito, Yohei Miyagi, Tomoyasu Kato, Hiroshi Yoshida, Yukihide Momozawa, Takashi Kohno, Kouya Shiraishi, Kosei Hasega |
| Histologic patterns in prostatic adenocarcinoma are not predictive of mutations in the homologous recombination repair pathway. Human pathology 2024 1 . Jon Mahlow, Marc Barry, Daniel J Albertson, Yeon Jung Jo, Michael Balatico, Tori Seasor, Georges Gebrael, Shruti A Kumar, Nicolas Sayegh, Nishita Tripathi, Neeraj Agarwal, Umang Swami, Deepika Siro |
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