HuGE Literature Finder
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| Polymorphisms and rare variants identified by next-generation sequencing confer risk for lung cancer in han Chinese population. Pathology, research and practice 2020 Feb 152873. Li Xiaoqi, Liu Jinsheng, Wang Ke, Zhou Juan, Zhang Hang, Zhang Mancang, Shi Yongyo |
| Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. Clinical biochemistry 2019 Nov . Rodríguez-Balada Marta, Roig Bàrbara, Melé Mireia, Albacar Cinta, Serrano Sara, Salvat Mònica, Querol Montserrat, Borràs Joan, Martorell Lourdes, Gumà Jos |
| Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection. The Journal of molecular diagnostics : JMD 2018 01 20 (1): 87-94. Capone Gabriele Lorenzo, Putignano Anna Laura, Trujillo Saavedra Sharon, Paganini Irene, Sestini Roberta, Gensini Francesca, De Rienzo Irene, Papi Laura, Porfirio Berardi |
| Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families. Cancer medicine 2018 01 7 (1): 46-55. Coppa Anna, Nicolussi Arianna, D'Inzeo Sonia, Capalbo Carlo, Belardinilli Francesca, Colicchia Valeria, Petroni Marialaura, Zani Massimo, Ferraro Sergio, Rinaldi Christian, Buffone Amelia, Bartolazzi Armando, Screpanti Isabella, Ottini Laura, Giannini Giusep |
| Germline BRCA mutations in Asian patients with pancreatic adenocarcinoma: a prospective study evaluating risk category for genetic testing. Investigational new drugs 2017 Aug . Lee Kyoungmin, Yoo Changhoon, Kim Kyu-Pyo, Park Kyoung-Jin, Chang Heung-Moon, Kim Tae Won, Lee Jae-Lyun, Lee Woochang, Lee Sang Soo, Park Do Hyun, Song Tae Jun, Seo Dong Wan, Lee Sung Koo, Kim Myung-Hwan, Shin Sang Hyun, Hwang Dae Wook, Song Ki Byung, Lee Jae Hoon, Kim Song Cheol, Ryoo Baek-Ye |
| Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. Breast cancer research and treatment 2016 Aug . Pinto Pedro, Paulo Paula, Santos Catarina, Rocha Patrícia, Pinto Carla, Veiga Isabel, Pinheiro Manuela, Peixoto Ana, Teixeira Manuel |
| Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples. Oncotarget 2016 09 7 (38): 61845-61859. Enyedi Márton Zsolt, Jaksa Gábor, Pintér Lajos, Sükösd Farkas, Gyuris Zoltán, Hajdu Adrienn, Határvölgyi Erika, Priskin Katalin, Haracska Laj |
| Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. European journal of human genetics : EJHG 2014 Nov 22 (11): 1305-13. Castéra Laurent, Krieger Sophie, Rousselin Antoine, Legros Angélina, Baumann Jean-Jacques, Bruet Olivia, Brault Baptiste, Fouillet Robin, Goardon Nicolas, Letac Olivier, Baert-Desurmont Stéphanie, Tinat Julie, Bera Odile, Dugast Catherine, Berthet Pascaline, Polycarpe Florence, Layet Valérie, Hardouin Agnes, Frébourg Thierry, Vaur Dominiq |
| A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations. The Journal of molecular diagnostics : JMD 2013 Nov 15 (6): 796-809. Bosdet Ian E, Docking T Roderick, Butterfield Yaron S, Mungall Andrew J, Zeng Thomas, Coope Robin J, Yorida Erika, Chow Katie, Bala Miruna, Young Sean S, Hirst Martin, Birol Inanc, Moore Richard A, Jones Steven J, Marra Marco A, Holt Rob, Karsan A |
| RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. PloS one 2012 7 (12): e52374. Le Calvez-Kelm Florence, Oliver Javier, Damiola Francesca, Forey Nathalie, Robinot Nivonirina, Durand Geoffroy, Voegele Catherine, Vallée Maxime P, Byrnes Graham, Registry Breast Cancer Family, Hopper John L, Southey Melissa C, Andrulis Irene L, John Esther M, Tavtigian Sean V, Lesueur Fabien |
| Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes. Clinica chimica acta; international journal of clinical chemistry 2011 Mar 412 (7-8): 578-82. de Juan Jiménez Inmaculada, Cardeñosa Eva Esteban, Suela Sarai Palanca, González Eva Barragán, Trejo Dolores Salas, Lluch Oscar Fuster, Gilabert Pascual Boluf |
| BRCA2 mutations in a population-based series of patients with ocular melanoma. International journal of cancer. Journal international du cancer 2002 Nov 102 (2): 188-91. Scott Rodney J, Vajdic Claire M, Armstrong Bruce K, Ainsworth Christopher J, Meldrum Cliff J, Aitken Joanne F, Kricker An |
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- Page last updated:Feb 07, 2023
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