Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 98 Records) |
| Query Trace: BLM[original query] |
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| Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer. Scientific reports 2020 12 10 (1): 22087. Abdel-Wahab Reham, Yap Timothy A, Madison Russell, Pant Shubham, Cooke Matthew, Wang Kai, Zhao Haitao, Bekaii-Saab Tanios, Karatas Elif, Kwong Lawrence N, Meric-Bernstam Funda, Borad Mitesh, Javle Mili |
| Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma. Proceedings of the National Academy of Sciences of the United States of America 2020 12 117 (52): 33466-33473. Bononi Angela, Goto Keisuke, Ak Guntulu, Yoshikawa Yoshie, Emi Mitsuru, Pastorino Sandra, Carparelli Lorenzo, Ferro Angelica, Nasu Masaki, Kim Jin-Hee, Suarez Joelle S, Xu Ronghui, Tanji Mika, Takinishi Yasutaka, Minaai Michael, Novelli Flavia, Pagano Ian, Gaudino Giovanni, Pass Harvey I, Groden Joanna, Grzymski Joseph J, Metintas Muzaffer, Akarsu Muhittin, Morrow Betsy, Hassan Raffit, Yang Haining, Carbone Miche |
| A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients. Gastroenterology report 2021 Aug 9 (4): 339-349. Zhang Yin-Jie, Yang Yang, Wei Qing, Xu Ting, Zhang Xiao-Tian, Gao Jing, Tan Si-Yi, Liu Bao-Rui, Zhang Jing-Dong, Chen Xiao-Bing, Wang Zhao-Jie, Qiu Meng, Wang Xin, Shen Lin, Wang Xi-Che |
| Impact of Neoantigen Expression and T-Cell Activation on Breast Cancer Survival. Cancers 2021 Jun 13 (12): . Li Wenjing, Amei Amei, Bui Francis, Norouzifar Saba, Lu Lingeng, Wang Zuohe |
| Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients. Cancers 2021 Mar 13 (6): . Aguado-Barrera Miguel E, Martínez-Calvo Laura, Fernández-Tajes Juan, Calvo-Crespo Patricia, Taboada-Valladares Begoña, Lobato-Busto Ramón, Gómez-Caamaño Antonio, Vega A |
| DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population. DNA repair 2021 3 101 103079. Niazi Yasmeen, Thomsen Hauke, Smolkova Bozena, Vodickova Ludmila, Vodenkova So?a, Kroupa Michal, Vymetalkova Veronika, Kazimirova Alena, Barancokova Magdalena, Volkovova Katarina, Staruchova Marta, Hoffmann Per, Nöthen Markus M, Dusinska Maria, Musak Ludovit, Vodicka Pavel, Försti Asta, Hemminki Ka |
| Exonic sequencing and MLH3 gene expression analysis of breast cancer patients. Cellular and molecular biology (Noisy-le-Grand, France) 2021 12 67 (3): 35-43. Khailany Rozhgar A, Ozaslan Mehm |
| Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma. Frontiers in oncology 2021 12 11 737547. Kong Wen, Yang Tongtong, Wen Xiaodong, Mu Zhongyi, Zhao Cheng, Han Sujun, Tian Jing, Zhang Xinhao, Zhou Tao, Zhang Yanrui, Lou Feng, Cao Shanbo, Wang Huina, Zhang J |
| Untangling the clinicopathological significance of MRE11-RAD50-NBS1 complex in sporadic breast cancers. NPJ breast cancer 2021 Nov 7 (1): 143. Alblihy Adel, Shoqafi Ahmed, Toss Michael S, Algethami Mashael, Harris Anna E, Jeyapalan Jennie N, Abdel-Fatah Tarek, Servante Juliette, Chan Stephen Y T, Green Andrew, Mongan Nigel P, Rakha Emad A, Madhusudan Srinivas |
| [Difference analysis of somatic mutations between deficient mismatch repair and proficient mismatch repair gene related with colorectal cancer]. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2021 10 43 (10): 1088-1093. Tang X J, Yang M Y, Zhu L Z, Xu D, Yuan |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
| Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants. Journal of the National Cancer Institute 2022 10 115 (2): 181-189. Lim Belle W X, Li Na, Mahale Sakshi, McInerny Simone, Zethoven Magnus, Rowley Simone M, Huynh Joanne, Wang Theresa, Lee Jue Er Amanda, Friedman Mia, Devereux Lisa, Scott Rodney J, Sloan Erica K, James Paul A, Campbell Ian |
| Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma. Blood 2022 10 141 (6): 620-633. Ansari-Pour Naser, Samur Mehmet, Flynt Erin, Gooding Sarah, Towfic Fadi, Stong Nicholas, Estevez Maria Ortiz, Mavrommatis Konstantinos, Walker Brian, Morgan Gareth, Munshi Nikhil, Avet-Loiseau Herve, Thakurta Anj |
| Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs). JCO precision oncology 2022 1 5 808-816. Perez Kimberly, Kulke Matthew H, Chittenden Anu, Ukaegbu Chinedu, Astone Kristina, Alexander Holly, Brais Lauren, Zhang Jinming, Garcia John, Esplin Edward D, Yang Shan, Da Silva Annacarolina, Nowak Jonathan A, Yurgelun Matthew B, Garber Judy, Syngal Sapna, Chan Jennif |
| Ovarian squamous cell carcinoma associated with teratoma: a report of six cases with genomic analysis. Pathology 2023 9 . Yun Liang, Huajuan Ruan, Minghua Yu, Bingjian |
| Next generation sequencing reveals a high prevalence of pathogenic mutations in homologous recombination DNA damage repair genes among patients with uterine sarcoma. Gynecologic oncology 2023 8 177 14-19. Dimitrios Nasioudis, Nawar A Latif, Emily M Ko, Lori Cory, Sarah H Kim, Lainie Martin, Fiona Simpkins, Robert Giunto |
| Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer. Journal of ovarian research 2023 7 16 (1): 141. A W Adamson, Y C Ding, L Steele, L A Leong, R Morgan, M T Wakabayashi, E S Han, T H Dellinger, P S Lin, A A Hakim, S Wilczynski, C D Warden, S Tao, V Bedell, M C Cristea, S L Neuhaus |
| Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study. Frontiers in neurology 2023 6 14 1159658. Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit |
| Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer. International journal of molecular sciences 2023 4 24 (7): . Savkova Alina, Gulyaeva Lyudmila, Gerasimov Aleksey, Krasil'nikov Serg |
| Genomic Analyses of Germline and Somatic Variation in High-Grade Serous Ovarian Cancer. Research square 2023 3 . Adamson Aaron W, Ding Yuan Chun, Steele Linda, Leong Lucile A, Morgan Robert, Wakabayashi Mark T, Han Ernest S, Dellinger Thanh H, Lin Paul S, Hakim Amy A, Wilczynski Sharon, Warden Charles D, Tao Shu, Bedell Victoria, Cristea Mihaela C, Neuhausen Susan |
| Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico. Frontiers in genetics 2023 2 14 1094260. Díaz-Velásquez Clara Estela, Gitler Rina, Antoniano Adriana, Kershenovich Sefchovich Ronny, De La Cruz-Montoya Aldo Hugo, Martínez-Gregorio Héctor, Rojas-Jiménez Ernesto Arturo, Cortez Cardoso Penha Ricardo, Terrazas Luis Ignacio, Wegman-Ostrosky Talia, Levi-Lahad Ephrat, Zabaleta Jovanny, Perdomo Sandra, Vaca-Paniagua Feli |
| Association of Reported Candidate Monogenic Genes With Lung Cancer Risk. Clinical lung cancer 2023 2 . Rifkin Andrew S, Less Ethan M, Wei Jun, Shi Zhuqing, Zheng Siqun Lilly, Helfand Brian T, Hulick Peter J, Krantz Seth B, Xu Jianfe |
| BLM mutation is associated with increased tumor mutation burden and improved survival after immunotherapy across multiple cancers. Cancer medicine 2023 12 . Huiping Shi, Liang Gao, Hong Yin, Min Jia |
| Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing. Molecular oncology 2023 10 . Zhe Yu, Zirui Zhang, Jun Liu, Xiaoying Wu, Xiaojun Fan, Jiaohui Pang, Hua Bao, Jiani Yin, Xue Wu, Yang Shao, Zhengcheng Liu, Fang L |
| Homologous Recombination Repair Gene Mutations to Predict Olaparib Plus Bevacizumab Efficacy in the First-Line Ovarian Cancer PAOLA-1/ENGOT-ov25 Trial. JCO precision oncology 2023 1 7 e2200258. Pujade-Lauraine Eric, Brown Jessica, Barnicle Alan, Wessen Jonathan, Lao-Sirieix Pierre, Criscione Steven W, du Bois Andreas, Lorusso Domenica, Romero Ignacio, Petru Edgar, Yoshida Hiroyuki, Vergote Ignace, Colombo Nicoletta, Hietanen Sakari, Provansal Magali, Schmalfeldt Barbara, Pignata Sandro, Martín Lorente Cristina, Berton Dominique, Runnebaum Ingo B, Ray-Coquard Isabel |
| Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome. Journal of human genetics 2023 1 . Kaneko Hideo, Kawase Chizuru, Seki Junko, Ikawa Yasuhiro, Yachie Akihiro, Funato Michino |
| Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma. Pigment cell & melanoma research 2024 9 . Pauliina E Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz-Tuikkanen, Reetta-Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T Al-Jamal, Tero T Kivelä, Joni A Turun |
| Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1 monocytes-derived macrophages. Annals of the rheumatic diseases 2024 9 . Xinran Yuan, Xiaodong Qin, Kenji Takemoto, Jian Zhao, Matthew Sanderson, Xue Xu, Yu Zhang, Kristi L Helke, Bethany Jacobs Wolf, Joel M Guthridge, Judith A James, Xiaodong Zhou, Shervin Assassi, Carol Feghali-Bostwick, Dandan Wang, Lingyun Sun, Betty P Ts |
| 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 |
| Genomic Alterations Correlated to Trastuzumab Resistance and Clinical Outcomes in HER2+/HR- Breast Cancers of Patients Living in Northwestern China. Journal of Cancer 2024 7 15 (14): 4467-4476. Gang Ma, Binliang Huo, Yanwei Shen, Xulong Zhu, Chong Cheng, Wensheng Li, Wei Cao, Jianhui |
- Page last reviewed:Feb 1, 2024
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