Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 73 Records) |
| Query Trace: Neoplasms and BLM[original query] |
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| Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia. Scientific reports 2020 9 10 (1): 14297. Kim Borahm, Yun Woobin, Lee Seung-Tae, Choi Jong Rok, Yoo Keon Hee, Koo Hong Hoe, Jung Chul Won, Kim Sun H |
| Werner Syndrome Protein Expression in Breast Cancer. Clinical breast cancer 2020 9 21 (1): 57-73.e7. Savva Constantinos, Sadiq Maaz, Sheikh Omar, Karim Syed, Trivedi Sachin, Green Andrew R, Rakha Emad A, Madhusudan Srinivasan, Arora Arvi |
| A Clinicopathological Study of 29 Spitzoid Melanocytic Lesions With ALK Fusions, Including Novel Fusion Variants, Accompanied by Fluorescence In Situ Hybridization Analysis for Chromosomal Copy Number Changes, and Both TERT Promoter and Next-Generation Sequencing Mutation Analysis. The American Journal of dermatopathology 2020 Aug 42 (8): 578-592. Kastnerova Liubov, Martinek Petr, Grossmann Petr, Steiner Petr, Vanecek Tomas, Kyclova Jitka, Ferak Ivan, Zalud Radim, Slehobr Ondrej, Svajdler Peter, Sulc Miroslav, Bradamante Mirna, Banik Martin, Hadravsky Ladislav, Sticova Eva, Hajkova Veronika, Ptakova Nikola, Michal Michal, Kazakov Dmitry |
| Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing. Journal of cancer research and clinical oncology 2020 6 146 (9): 2277-2287. Zhou Xiaoyun, Xu Xiaohui, Tian Zhenhuan, Xu Wang-Yang, Cui Yusha |
| Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. NPJ breast cancer 2020 6 6 25. Kaneyasu Tomoko, Mori Seiichi, Yamauchi Hideko, Ohsumi Shozo, Ohno Shinji, Aoki Daisuke, Baba Shinichi, Kawano Junko, Miki Yoshio, Matsumoto Naomichi, Nagasaki Masao, Yoshida Reiko, Akashi-Tanaka Sadako, Iwase Takuji, Kitagawa Dai, Masuda Kenta, Hirasawa Akira, Arai Masami, Takei Junko, Ide Yoshimi, Gotoh Osamu, Yaguchi Noriko, Nishi Mitsuyo, Kaneko Keika, Matsuyama Yumi, Okawa Megumi, Suzuki Misato, Nezu Aya, Yokoyama Shiro, Amino Sayuri, Inuzuka Mayuko, Noda Tetsuo, Nakamura Sei |
| 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 |
| Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review. Human mutation 2020 May . Belhadj Sami, Terradas Mariona, Munoz-Torres Pau M, Aiza Gemma, Navarro Matilde, Capellá Gabriel, Valle Lau |
| Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer. Scientific reports 2020 12 10 (1): 21276. Moslehi Roxana, Tsao Hui-Shien, Zeinomar Nur, Stagnar Cristy, Fitzpatrick Sean, Dzutsev Amir |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Nov 28, 2023
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