HuGE Literature Finder
Records 1-30
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Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.
PloS one 2021 16 (1): e0245362. Boujemaa Maroua, Hamdi Yosr, Mejri Nesrine, Romdhane Lilia, Ghedira Kais, Bouaziz Hanen, El Benna Houda, Labidi Soumaya, Dallali Hamza, Jaidane Olfa, Ben Nasr Sonia, Haddaoui Abderrazek, Rahal Khaled, Abdelhak Sonia, Boussen Hamouda, Boubaker Mohamed Sam |
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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 |
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Characterization and Clinical Outcomes of DNA Mismatch Repair Deficient (MMR-D) Small Bowel Adenocarcinoma.
Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Nov . Latham Alicia, Shia Jinru, Patel Zalak, Reidy-Lagunes Diane L, Segal Neil H, Yaeger Rona, Ganesh Karuna, Connell Louise, Kemeny Nancy E, Kelsen David P, Hechtman Jaclyn F, Nash Garrett M, Paty Philip B, Zehir Ahmet, Tkachuk Kaitlyn, Sheikh Rania, Markowitz Arnold J, Mandelker Diana, Offit Kenneth, Berger Michael F, Cercek Andrea, Garcia-Aguilar Julio, Saltz Leonard B, Weiser Martin R, Stadler Zsofia |
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Frequency and Coexistence of KRAS, NRAS, BRAF, and PIK3CA Mutations and occurrence of MMR deficiency in Danish Colorectal Cancer Patients.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2020 Oct . Poulsen Tim Svenstrup, de Oliveira Douglas Vinicius Nogueira Perez, Espersen Maiken Lise Marcker, Klarskov Louise Laurberg, Skovrider-Ruminski Wojciech, Hogdall Estr |
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Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.
Cancer communications (London, England) 2020 Sep . Jiang Teng-Jia, Wang Fang, Wang Ying-Nan, Hu Jia-Jia, Ding Pei-Rong, Lin Jun-Zhong, Pan Zhi-Zhong, Chen Gong, Shao Jian-Yong, Xu Rui-Hua, Zhao Qi, Wang Fe |
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Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
International journal of cancer 2020 Sep . Wokolorczyk Dominika, Kluzniak Wojciech, Huzarski Tomasz, Gronwald Jacek, Szymiczek Agata, Rusak Bogna, Stempa Klaudia, Gliniewicz Katarzyna, Kashyap Aniruddh, Morawska Sylwia, Debniak Tadeusz, Jakubowska Anna, Szwiec Marek, Domagala Pawel, Lubinski Jan, Narod Steven A, Akbari Mohammad R, Cybulski Cezary, |
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Exon splicing analysis of intronic variants in multi-gene cancer panel testing for hereditary breast/ovarian cancer.
Cancer science 2020 Aug . Ryu Jin-Sun, Lee Hye-Young, Cho Eun Hae, Yoon Kyong-Ah, Kim Min-Kyeong, Joo Jungnam, Lee Eun-Sook, Kang Han-Sung, Lee Seeyoun, Lee Dong Ock, Lim Myong Cheol, Kong Sun-You |
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Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach.
Gynecologic oncology 2020 Jul . Rosa Reginaldo Cruz Alves, Santis Jessica Oliveira, Teixeira Lorena Alves, Molfetta Greice Andreotti, Dos Santos Jennifer Thalita Targino, Ribeiro Vanessa Dos Santos, Chahud Fernando, Ribeiro-Silva Alfredo, Brunaldi Mariângela Ottoboni, Silva Wilson Araújo, Ferraz Victor Evangelista de Far |
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A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Journal of translational medicine 2020 Jun 18 (1): 232. Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Merced |
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Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 Mar . Lamba Mehul, Wakeman Chris, Ebel Rosy, Hamilton Sarah, Frampton Chris, Kiesanowski Maxene, Griffiths Ben, Keating John, Parry Susan, Chalmers-Watson Tere |
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Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Cancer 2020 Feb . Maynard Hannah, Stadler Zsofia K, Berger Michael F, Solit David B, Ly Michele, Lowery Maeve A, Mandelker Diana, Zhang Liying, Jordan Emmett, El Dika Imane, Kemel Yelena, Ladanyi Marc, Robson Mark E, O'Reilly Eileen M, Abou-Alfa Ghassan |
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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
BMC medical genomics 2020 Feb 13 (1): 21. da Costa E Silva Carvalho Simone, Cury Nathalia Moreno, Brotto Danielle Barbosa, de Araujo Luiza Ferreira, Rosa Reginaldo Cruz Alves, Texeira Lorena Alves, Plaça Jessica Rodrigues, Marques Adriana Aparecida, Peronni Kamila Chagas, Ruy Patricia de Cássia, Molfetta Greice Andreotti, Moriguti Julio Cesar, Carraro Dirce Maria, Palmero Edenir Inêz, Ashton-Prolla Patricia, de Faria Ferraz Victor Evangelista, Silva Wilson Arau |
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p53, Cyclin-D1, ß-catenin, APC and c-myc in Tumor Tissue from Colorectal and Gastric Cancer Patients with Suspected Lynch Syndrome by the Bethesda Criteria.
Asian Pacific journal of cancer prevention : APJCP 2020 Feb 21 (2): 343-348. Marcolino Tais Fernanda, Pimenta Celia Aparecida Marques, Artigiani Neto Ricardo, Castelo Paula, Silva Marcelo Souza, Forones Nora Manoukian, Oshima Celina Tizuko Fujiya |
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Inherited DNA-repair gene mutations in African American men with prostate cancer.
Oncotarget 2020 Jan 11 (4): 440-442. Sartor Oliver, Yang Shan, Ledet Elisa, Moses Marcus, Nicolosi Pip |
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Multigene panel testing results in patients with multiple breast cancer primaries.
The breast journal 2020 Jan . Corredor Jessica, Woodson Ashley H, Gutierrez Barrera Angelica, Arun Ba |
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Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
Familial cancer 2020 Jan . Morak Monika, Steinke-Lange Verena, Massdorf Trisari, Benet-Pages Anna, Locher Melanie, Laner Andreas, Kayser Katrin, Aretz Stefan, Holinski-Feder El |
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Cancer management and research 2020 12 11231-11241. Gao Yuan, Zhang Xiuping, Wang Tian, Zhang Ye, Wang Qingxuan, Hu Yuanji |
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Genomic variation as a marker of response to neoadjuvant therapy in locally advanced rectal cancer.
Molecular & cellular oncology 2020 7 (3): 1716618. Douglas Jason K, Callahan Rose E, Hothem Zachary A, Cousineau Craig S, Kawak Samer, Thibodeau Bryan J, Bergeron Shelli, Li Wei, Peeples Claire E, Wasvary Harry |
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Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
Breast cancer research and treatment 2019 Sep . Scarpitta R, Zanna I, Aretini P, Gambino G, Scatena C, Mei B, Ghilli M, Rossetti E, Roncella M, Congregati C, Bonci F, Naccarato A G, Palli D, Caligo M |
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Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
Journal of ovarian research 2019 Aug 12 (1): 80. Li Wenhui, Shao Di, Li Lei, Wu Ming, Ma Shuiqing, Tan Xianjie, Zhong Sen, Guo Fengming, Wang Zhe, Ye Mingz |
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Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.
Cancer medicine 2019 Aug . Kiyozumi Yoshimi, Matsubayashi Hiroyuki, Horiuchi Yasue, Higashigawa Satomi, Oishi Takuma, Abe Masato, Ohnami Sumiko, Urakami Kenichi, Nagashima Takeshi, Kusuhara Masatoshi, Miyake Hidehiko, Yamaguchi K |
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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy.
Cancer research and treatment : official journal of Korean Cancer Association 2019 Jul 51 (3): 1198-1206. Yang Jie, Huang Ying, Feng Yanru, Li Hongmin, Feng Ting, Chen Jinna, Yin Luxi, Wang Weihu, Wang Shulian, Liu Yueping, Song Yongwen, Li Yexiong, Jin Jing, Tan Wen, Lin Dongx |
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An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun . Suerink Manon, Rodríguez-Girondo Mar, van der Klift Heleen M, Colas Chrystelle, Brugieres Laurence, Lavoine Noémie, Jongmans Marjolijn, Munar Gabriel Capellá, Evans D Gareth, Farrell Michael P, Genuardi Maurizio, Goldberg Yael, Gomez-Garcia Encarna, Heinimann Karl, Hoell Jessica I, Aretz Stefan, Jasperson Kory W, Kedar Inbal, Modi Mitul B, Nikolaev Sergey, van Os Theo A M, Ripperger Tim, Rueda Daniel, Senter Leigha, Sjursen Wenche, Sunde Lone, Therkildsen Christina, Tibiletti Maria G, Trainer Alison H, Vos Yvonne J, Wagner Anja, Winship Ingrid, Wimmer Katharina, Zimmermann Stefanie Y, Vasen Hans F, van Asperen Christi J, Houwing-Duistermaat Jeanine J, Ten Broeke Sanne W, Nielsen Maart |
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Molecular classification of endometrial carcinoma applied to endometrial biopsy specimens: Towards early personalized patient management.
Gynecologic oncology 2019 Jun . Abdulfatah Eman, Wakeling Erin, Sakr Sharif, Al-Obaidy Khaleel, Bandyopadhyay Sudeshna, Morris Robert, Feldman Gerald, Ali-Fehmi Rou |
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Low frequency of mismatch repair deficiency in gallbladder cancer.
Diagnostic pathology 2019 May 14 (1): 36. Goeppert Benjamin, Roessler Stephanie, Renner Marcus, Loeffler Moritz, Singer Stephan, Rausch Melina, Albrecht Thomas, Mehrabi Arianeb, Vogel Monika Nadja, Pathil Anita, Czink Elena, Köhler Bruno, Springfeld Christoph, Rupp Christian, Weiss Karl Heinz, Schirmacher Peter, von Knebel Doeberitz Magnus, Kloor Matthi |
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Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.
Genes, chromosomes & cancer 2019 May . de Smith Adam J, Lavoie Geneviève, Walsh Kyle M, Aujla Sumeet, Evans Erica, Hansen Helen M, Smirnov Ivan, Kang Alice Y, Zenker Martin, Ceremsak John J, Stieglitz Elliot, Muskens Ivo S, Roberts William, McKean-Cowdin Roberta, Metayer Catherine, Roux Philippe P, Wiemels Joseph |
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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Scientific reports 2019 Mar 9 (1): 3931. Lin Peng-Chan, Yeh Yu-Min, Wu Pei-Ying, Hsu Keng-Fu, Chang Jang-Yang, Shen Meng- |
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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Human mutation 2019 Feb . Gallon Richard, Mühlegger Barbara, Wenzel Sören-Sebastian, Sheth Harsh, Hayes Christine, Aretz Stefan, Dahan Karin, Foulkes William, Kratz Christian P, Ripperger Tim, Azizi Amedeo A, Feldman Hagit Baris, Chong Anne-Laure, Demirsoy Ugur, Florkin Benoît, Imschweiler Thomas, Januszkiewicz-Lewandowska Danuta, Lobitz Stephan, Nathrath Michaela, Pander Hans-Jürgen, Perez-Alonso Vanesa, Perne Claudia, Ragab Iman, Rosenbaum Thorsten, Rueda Daniel, Seidel Markus G, Suerink Manon, Taeubner Julia, Zimmermann Stefanie-Yvonne, Zschocke Johannes, Borthwick Gillian M, Burn John, Jackson Michael S, Santibanez-Koref Mauro, Wimmer Kathari |
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Correlation between microsatellite instability and RAS gene mutation and stage III colorectal cancer.
Oncology letters 2019 Jan 17 (1): 332-338. Niu Wenbo, Wang Guiying, Feng Jun, Li Zheng, Li Chenhui, Shan Bao |
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The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
Cancer causes & control : CCC 2019 Jan 30 (1): 97-101. Bernstein-Molho Rinat, Laitman Yael, Schayek Hagit, Iomdin Sarah, Friedman Eit |
- Page last reviewed:Oct 1, 2020
- Page last updated:Mar 02, 2021
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