Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Efficiency and BRCA1[original query] |
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| Frequency of BRCA1 dysfunction in ovarian cancer. Journal of the National Cancer Institute 2002 1 94 (1): 61-7. Geisler John P, Hatterman-Zogg Melanie A, Rathe Jennifer A, Buller Richard |
| Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genetics in medicine : official journal of the American College of Medical Genetics 2009 Nov 11 (11): 783-9. Bellcross Cecelia A, Lemke Amy A, Pape Laura S, Tess Angela L, Meisner Lorraine |
| 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 |
| Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Human molecular genetics 2011 Dec 20 (23): 4732-47. Cox David G, Simard Jacques, Sinnett Daniel, Hamdi Yosr, Soucy Penny, Ouimet Manon, Barjhoux Laure, Verny-Pierre Carole, McGuffog Lesley, Healey Sue, Szabo Csilla, Greene Mark H, Mai Phuong L, Andrulis Irene L, , Thomassen Mads, Gerdes Anne-Marie, Caligo Maria A, Friedman Eitan, Laitman Yael, Kaufman Bella, Paluch Shani S, Borg Åke, Karlsson Per, Askmalm Marie Stenmark, Bustinza Gisela Barbany, , Nathanson Katherine L, Domchek Susan M, Rebbeck Timothy R, Benítez Javier, Hamann Ute, Rookus Matti A, van den Ouweland Ans M W, Ausems Margreet G E M, Aalfs Cora M, van Asperen Christi J, Devilee Peter, Gille Hans J J P, , , Peock Susan, Frost Debra, Evans D Gareth, Eeles Ros, Izatt Louise, Adlard Julian, Paterson Joan, Eason Jacqueline, Godwin Andrew K, Remon Marie-Alice, Moncoutier Virginie, Gauthier-Villars Marion, Lasset Christine, Giraud Sophie, Hardouin Agnès, Berthet Pascaline, Sobol Hagay, Eisinger François, Bressac de Paillerets Brigitte, Caron Olivier, Delnatte Capucine, , Goldgar David, Miron Alex, Ozcelik Hilmi, Buys Saundra, Southey Melissa C, Terry Mary Beth, , Singer Christian F, Dressler Anne-Catharina, Tea Muy-Kheng, Hansen Thomas V O, Johannsson Oskar, Piedmonte Marion, Rodriguez Gustavo C, Basil Jack B, Blank Stephanie, Toland Amanda E, Montagna Marco, Isaacs Claudine, Blanco Ignacio, Gayther Simon A, Moysich Kirsten B, Schmutzler Rita K, Wappenschmidt Barbara, Engel Christoph, Meindl Alfons, Ditsch Nina, Arnold Norbert, Niederacher Dieter, Sutter Christian, Gadzicki Dorothea, Fiebig Britta, Caldes Trinidad, Laframboise Rachel, Nevanlinna Heli, Chen Xiaoqing, Beesley Jonathan, Spurdle Amanda B, Neuhausen Susan L, Ding Yuan C, Couch Fergus J, Wang Xianshu, Peterlongo Paolo, Manoukian Siranoush, Bernard Loris, Radice Paolo, Easton Douglas F, Chenevix-Trench Georgia, Antoniou Antonis C, Stoppa-Lyonnet Dominique, Mazoyer Sylvie, Sinilnikova Olga M, |
| [Mammographic screening with the assessment of risk factors and incidence of BRCA-associated breast cancer in the Republic of India]. Vestnik rentgenologii i radiologii 0 (5): 16-21. Ternovo? S K, Matkhev S, Meladze N V, Solopova A E, Abduraimov A B, Les'ko K |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer. PeerJ 2019 5 7 e6661. Nicolussi Arianna, Belardinilli Francesca, Mahdavian Yasaman, Colicchia Valeria, D'Inzeo Sonia, Petroni Marialaura, Zani Massimo, Ferraro Sergio, Valentini Virginia, Ottini Laura, Giannini Giuseppe, Capalbo Carlo, Coppa An |
| Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing. Molecular genetics & genomic medicine 2019 5 7 (7): e00771. Al Hannan Fatima, Keogh Michael B, Taha Safa, Al Buainain Lati |
| 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 |
| Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. Cancer science 2019 11 111 (2): 647-657. Shao Di, Cheng Shaomin, Guo Fengming, Zhu Changbin, Yuan Yuying, Hu Kunling, Wang Zhe, Meng Xuan, Jin Xin, Xiong Yun, Chai Xianghua, Li Hong, Zhang Yu, Zhang Hongyun, Liu Jihong, Ye Mingz |
| Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data. PeerJ 2019 11 7 e7972. Nicolussi Arianna, Belardinilli Francesca, Silvestri Valentina, Mahdavian Yasaman, Valentini Virginia, D'Inzeo Sonia, Petroni Marialaura, Zani Massimo, Ferraro Sergio, Di Giulio Stefano, Fabretti Francesca, Fratini Beatrice, Gradilone Angela, Ottini Laura, Giannini Giuseppe, Coppa Anna, Capalbo Car |
| A novel signature of two long non-coding RNAs in BRCA mutant ovarian cancer to predict prognosis and efficiency of chemotherapy. Journal of ovarian research 2020 9 13 (1): 112. Pan Yinglian, Jia Li Ping, Liu Yuzhu, Han Yiyu, Li Qian, Zou Qin, Zhang Zhongpei, Huang Jin, Deng Qingch |
| The association of a single-nucleotide variant in the microRNA-146a with advanced colorectal cancer prognosis. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2020 5 42 (5): 1010428320923856. Santos Jéssica Silva Dos, Zunta Gabriella Lucatto, Negrini Amanda Binatto, Ribeiro Marina Silva Guinda, Martinez Carlos Augusto Real, Ribeiro Marcelo Lima, Lourenço Gustavo Jacob, Ortega Manoela Marqu |
| Differential effects of cisplatin on cybrid cells with varying mitochondrial DNA haplogroups. PeerJ 2020 10 8 e9908. Abedi Sina, Yung Gregory, Atilano Shari R, Thaker Kunal, Chang Steven, Chwa Marilyn, Schneider Kevin, Udar Nitin, Bota Daniela, Kenney M Cristi |
| Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population. Cancer science 2021 5 112 (8): 3338-3348. Senda Noriko, Kawaguchi-Sakita Nobuko, Kawashima Masahiro, Inagaki-Kawata Yukiko, Yoshida Kenichi, Takada Masahiro, Kataoka Masako, Torii Masae, Nishimura Tomomi, Kawaguchi Kosuke, Suzuki Eiji, Kataoka Yuki, Matsumoto Yoshiaki, Yoshibayashi Hiroshi, Yamagami Kazuhiko, Tsuyuki Shigeru, Takahara Sachiko, Yamauchi Akira, Shinkura Nobuhiko, Kato Hironori, Moriguchi Yoshio, Okamura Ryuji, Kan Norimichi, Suwa Hirofumi, Sakata Shingo, Mashima Susumu, Yotsumoto Fumiaki, Tachibana Tsuyoshi, Tanaka Mitsuru, Togashi Kaori, Haga Hironori, Yamada Takahiro, Kosugi Shinji, Inamoto Takashi, Sugimoto Masahiro, Ogawa Seishi, Toi Masaka |
| Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair. Cell death discovery 2021 3 7 (1): 62. Chaudhry Sophia R, Lopes Jaime, Levin Nancy K, Kalpage Hasini, Tainsky Michael |
| SEOM clinical guidelines for the treatment of advanced prostate cancer (2020). Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2021 2 23 (5): 969-979. González Del Alba A, Méndez-Vidal M J, Vazquez S, Castro E, Climent M A, Gallardo E, Gonzalez-Billalabeitia E, Lorente D, Maroto J P, Arranz J |
| Cuproptosis-Related Risk Score Predicts Prognosis and Characterizes the Tumor Microenvironment in Hepatocellular Carcinoma. Frontiers in immunology 2022 7 13 925618. Zhang Zhen, Zeng Xiangyang, Wu Yinghua, Liu Yang, Zhang Xi, Song Zew |
| BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma. bioRxiv : the preprint server for biology 2023 2 . Randall Michael P, Egolf Laura E, Vaksman Zalman, Samanta Minu, Tsang Matthew, Groff David, Evans J Perry, Rokita Jo Lynne, Layeghifard Mehdi, Shlien Adam, Maris John M, Diskin Sharon J, Bosse Kristopher |
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