Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 56 Records) |
| Query Trace: Neoplasms and POT1[original query] |
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| Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications. International journal of cancer 2020 Jul . Pérez-Carretero Claudia, Hernández-Sánchez María, González Teresa, Quijada-Álamo Miguel, Martín-Izquierdo Marta, Hernández-Sánchez Jesús-María, Vidal María-Jesús, de Coca Alfonso García, Aguilar Carlos, Vargas-Pabón Manuel, Alonso Sara, Sierra Magdalena, Rubio-Martínez Araceli, Dávila Julio, Díaz-Valdés José R, Queizán José-Antonio, Hernández-Rivas José-Ángel, Benito Rocío, Rodríguez-Vicente Ana E, Hernández-Rivas Jesús-Mar |
| Telomere Maintenance Variants and Survival after Colorectal Cancer: Smoking- and Sex-Specific Associations. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 6 29 (9): 1817-1824. Yin Hang, Hardikar Sheetal, Lindstroem Sara, Hsu Li, Anderson Kristin E, Banbury Barbara L, Berndt Sonja I, Chan Andrew T, Giovanucci Edward L, Harrison Tabitha A, Joshi Amit D, Nan Hongmei, Potter John D, Sakoda Lori C, Slattery Martha L, Schoen Robert E, White Emily, Peters Ulrike, Newcomb Polly |
| Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes. Journal of clinical medicine 2020 6 9 (6): . Terradas Mariona, Capellá Gabriel, Valle Lau |
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
Nature genetics 2020 Jun . Ishigaki Kazuyoshi, Akiyama Masato, Kanai Masahiro, Takahashi Atsushi, Kawakami Eiryo, Sugishita Hiroki, Sakaue Saori, Matoba Nana, Low Siew-Kee, Okada Yukinori, Terao Chikashi, Amariuta Tiffany, Gazal Steven, Kochi Yuta, Horikoshi Momoko, Suzuki Ken, Ito Kaoru, Koyama Satoshi, Ozaki Kouichi, Niida Shumpei, Sakata Yasushi, Sakata Yasuhiko, Kohno Takashi, Shiraishi Kouya, Momozawa Yukihide, Hirata Makoto, Matsuda Koichi, Ikeda Masashi, Iwata Nakao, Ikegawa Shiro, Kou Ikuyo, Tanaka Toshihiro, Nakagawa Hidewaki, Suzuki Akari, Hirota Tomomitsu, Tamari Mayumi, Chayama Kazuaki, Miki Daiki, Mori Masaki, Nagayama Satoshi, Daigo Yataro, Miki Yoshio, Katagiri Toyomasa, Ogawa Osamu, Obara Wataru, Ito Hidemi, Yoshida Teruhiko, Imoto Issei, Takahashi Takashi, Tanikawa Chizu, Suzuki Takao, Sinozaki Nobuaki, Minami Shiro, Yamaguchi Hiroki, Asai Satoshi, Takahashi Yasuo, Yamaji Ken, Takahashi Kazuhisa, Fujioka Tomoaki, Takata Ryo, Yanai Hideki, Masumoto Akihide, Koretsune Yukihiro, Kutsumi Hiromu, Higashiyama Masahiko, Murayama Shigeo, Minegishi Naoko, Suzuki Kichiya, Tanno Kozo, Shimizu Atsushi, Yamaji Taiki, Iwasaki Motoki, Sawada Norie, Uemura Hirokazu, Tanaka Keitaro, Naito Mariko, Sasaki Makoto, Wakai Kenji, Tsugane Shoichiro, Yamamoto Masayuki, Yamamoto Kazuhiko, Murakami Yoshinori, Nakamura Yusuke, Raychaudhuri Soumya, Inazawa Johji, Yamauchi Toshimasa, Kadowaki Takashi, Kubo Michiaki, Kamatani Yoichi |
| 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 |
| Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 2020 Oct 8 (10): . Stolarova Lenka, Jelinkova Sandra, Storchova Radka, Machackova Eva, Zemankova Petra, Vocka Michal, Kodet Ondrej, Kral Jan, Cerna Marta, Volkova Zuzana, Janatova Marketa, Soukupova Jana, Stranecky Viktor, Dundr Pavel, Foretova Lenka, Macurek Libor, Kleiblova Petra, Kleibl Zden |
| Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
Communications biology 2021 5 4 (1): 519. Chang Xuling, Gurung Resham L, Wang Ling, Jin Aizhen, Li Zheng, Wang Renwei, Beckman Kenneth B, Adams-Haduch Jennifer, Meah Wee Yang, Sim Kar Seng, Lim Weng Khong, Davila Sonia, Tan Patrick, Teo Jing Xian, Yeo Khung Keong, M Yiamunaa, Liu Sylvia, Lim Su Chi, Liu Jianjun, van Dam Rob M, Friedlander Yechiel, Koh Woon-Puay, Yuan Jian-Min, Khor Chiea Chuen, Heng Chew-Kiat, Dorajoo Rajkum |
| Genetic markers for characterization and prediction of prognosis of melanoma subtypes: a 2021 update. Italian journal of dermatology and venereology 2021 5 156 (3): 322-330. Podlipnik Sebastian, Potrony Miriam, Puig Susa |
| POT1 Regulates Proliferation and Confers Sexual Dimorphism in Glioma. Cancer research 2021 3 81 (10): 2703-2713. Jalali Ali, Yu Kwanha, Beechar Vivek, Bosquez Huerta Navish A, Grichuk Anthony, Mehra Deepika, Lozzi Brittney, Kong Kathleen, Scott Kenneth L, Rao Ganesh, Bainbridge Matthew N, Bondy Melissa L, Deneen Benjam |
| Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup. ESMO open 2022 7 7 (4): 100525. Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia A V, Molica C, Gensini F, Sala E, Uliana V, Soma P F, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C, , Pastorino L, Ghiorzo |
| Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma? Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Jun . Macauda Angelica, Clay-Gilmour Alyssa, Hielscher Thomas, Hildebrandt Michelle A T, Kruszewski Marcin, Orlowski Robert Z, Kumar Shaji K, Ziv Elad, Orciuolo Enrico, Brown Elizabeth E, Försti Asta, Waller Rosalie G, Machiela Mitchell J, Chanock Stephen J, Camp Nicola J, Rymko Marcin, Ra?ny Ma?gorzata, Cozen Wendy, Várkonyi Judit, Piredda Chiara, Pelosini Matteo, Belachew Alem A, Subocz Edyta, Hemminki Kari, Rybicka-Ramos Malwina, Giles Graham G, Milne Roger L, Hofmann Jonathan N, Zaucha Jan Maciej, Vangsted Annette Juul, Goldschmidt Hartmut, Rajkumar S Vincent, Tomczak Waldemar, Sainz Juan, Butrym Aleksandra, Watek Marzena, Iskierka-Jazdzewska El?bieta, Buda Gabriele, Robinson Dennis P, Jurczyszyn Artur, Dudzi?ski Marek, Martinez-Lopez Joaquin, Sinnwell Jason P, Slager Susan L, Jamroziak Krzysztof, Reis Rui Manuel Vieira, Weinhold Niels, Bhatti Parveen, Carvajal-Carmona Luis G, Zawirska Daria, Norman Aaron D, Mazur Grzegorz, Berndt Sonja I, Campa Daniele, Vachon Celine M, Canzian Federi |
| Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma. Genes 2022 4 13 (4): . Jajosky Audrey N, Mitchell Anna L, Akgul Mahmut, Shetty Shashirekha, Yoest Jennifer M, Gerson Stanton L, Sadri Navid, Oduro Kwadwo |
| Circulating tumour DNA biomarkers in savolitinib-treated patients with non-small cell lung cancer harbouring MET exon 14 skipping alterations: a post hoc analysis of a pivotal phase 2 study. Therapeutic advances in medical oncology 2022 11 14 17588359221133546. Yu Yongfeng, Ren Yongxin, Fang Jian, Cao Lejie, Liang Zongan, Guo Qisen, Han Sen, Ji Zimei, Wang Ye, Sun Yulan, Chen Yuan, Li Xingya, Xu Hua, Zhou Jianying, Jiang Liyan, Cheng Ying, Han Zhigang, Shi Jianhua, Chen Gongyan, Ma Rui, Fan Yun, Sun Sanyuan, Jiao Longxian, Jia Xiaoyun, Wang Linfang, Lu Puhan, Xu Qian, Luo Xian, Su Weiguo, Lu Sh |
| Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PloS one 2022 1 17 (1): e0262419. Fidalgo Felipe, Torrezan Giovana Tardin, Sá Bianca Costa Soares de, Barros Bruna Durães de Figueiredo, Moredo Luciana Facure, Valieris Renan, de Souza Sandro J, Duprat João Pereira, Krepischi Ana Cristina Victorino, Carraro Dirce Mar |
| Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India. BMC cancer 2023 9 23 (1): 874. Gh Rasool Bhat, Rajeshwer Singh Jamwal, Itty Sethi, Amrita Bhat, Ruchi Shah, Sonali Verma, Minerva Sharma, Hana Q Sadida, Sara K Al-Marzooqi, Tariq Masoodi, Sameer Mirza, Mohammad Haris, Muzafar A Macha, Ammira S Alshabeeb Akil, Ajaz A Bhat, Rakesh Kum |
| TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances 2023 8 4 (4): 100225. Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wa |
| High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: a multicenter cohort from the MelaNostrum Consortium. Journal of the European Academy of Dermatology and Venereology : JEADV 2023 8 . C Pellegrini, L Cardelli, P Ghiorzo, L Pastorino, M Potrony, Z García-Casado, L Elefanti, I Stefanaki, M Mastrangelo, S Necozione, P Aguilera, A Rodríguez-Hernández, L Di Nardo, T Rocco, L Del Regno, C Badenas, C Carrera, J Malvehy, C Requena, J Bañuls, A J Stratigos, K Peris, C Menin, D Calista, E Nagore, S Puig, M T Landi, M C Fargno |
| Familial Clonal Hematopoiesis in a Long Telomere Syndrome. The New England journal of medicine 2023 5 . Emily A DeBoy, Michael G Tassia, Kristen E Schratz, Stephanie M Yan, Zoe L Cosner, Emily J McNally, Dustin L Gable, Zhimin Xiang, David B Lombard, Emmanuel S Antonarakis, Christopher D Gocke, Rajiv C McCoy, Mary Armani |
| A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer. American journal of respiratory and critical care medicine 2023 5 . Sipeng Shen, Zaiming Li, Yunke Jiang, Weiwei Duan, Hongru Li, Sha Du, Manel Esteller, Hongbing Shen, Zhibin Hu, Yang Zhao, David C Christiani, Feng Ch |
| Telomere Length as a New Risk Marker of Early-Onset Colorectal Cancer. International journal of molecular sciences 2023 2 24 (4): . Martel-Martel Abel, Corchete Luis A, Martí Marc, Vidal-Tocino Rosario, Hurtado Elena, Álvaro Edurne, Jiménez Fernando, Jiménez-Toscano Marta, Balaguer Francesc, Sanz Gonzalo, López Irene, Hernández-Villafranca Sergio, Ballestero Araceli, Vivas Alfredo, Melone Sirio, Pastor Carlos, Brandáriz Lorena, Gómez-Marcos Manuel A, Cruz-Hernández Juan J, Perea José, González-Sarmiento Rogel |
| Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. International journal of molecular sciences 2023 11 24 (21): . Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carra |
| Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 11 OF1-OF8. Nitin Jain, Lisa J Croner, John N Allan, Tanya Siddiqi, Alessandra Tedeschi, Xavier C Badoux, Karl Eckert, Leo W K Cheung, Anwesha Mukherjee, James P Dean, Edith Szafer-Glusman, John F Seymo |
| Molecular profiling METex14+ non-small cell lung cancer (NSCLC): Impact of histology. Lung cancer (Amsterdam, Netherlands) 2024 9 196 107935. Jennifer A Marks, Nishant Gandhi, Balazs Halmos, Melina E Marmarelis, So Yeon Kim, Lyudmila Bazhenova, Suresh S Ramalingam, Joanne Xiu, Phillip Walker, Matthew J Oberley, Patrick C Ma, Stephen V L |
| Large-scale analysis of CDH1 mutations defines a distinctive molecular subset with treatment implications in gastric cancer. NPJ precision oncology 2024 9 8 (1): 214. Jingyuan Wang, Joanne Xiu, Francesca Battaglin, Hiroyuki Arai, Shivani Soni, Wu Zhang, Richard M Goldberg, Philip A Philip, Andreas Seeber, Jimmy J Hwang, Anthony F Shields, John L Marshall, Igor Astaturov, Tianshu Liu, A Craig Lockhart, W Michael Korn, Lin Shen, Heinz-Josef Le |
| Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescuing and cancer mutations. Blood 2024 9 . Fernanda Gutierrez-Rodrigues, Emma M Groarke, Natthakan Thongon, Juan Jose Rodriguez-Sevilla, Luiz Fernando Bazzo Catto, Marena Rebekka Niewisch, Ruba N Shalhoub, Lisa J McReynolds, Diego V Clé, Bhavisha A Patel, Xiaoyang Ma, Dalton Hironaka, Flavia S Donaires, Nina R Spitofsky, Barbara A Santana, Tsung-Po Lai, Lemlem Alemu, Sachiko Kajigaya, Ivana Darden, Weiyin Zhou, Paul V Browne, Subrata Paul, Justin Lack, David J Young, Courtney D DiNardo, Abraham Aviv, Feiyang Ma, Michel Michels de Oliveira, Ana Paula de Azambuja, Cynthia E Dunbar, Malgorzata Olszewska, Emmanuel Olivier, Eirini P Papapetrou, Neelam Giri, Blanche P Alter, Carmem M S Bonfim, Colin O Wu, Guillermo Garcia-Manero, Sharon A Savage, Neal S Young, Simona Colla, Rodrigo T Cala |
| Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma. Pigment cell & melanoma research 2024 9 . Peter A Johansson, Jane M Palmer, Lindsay McGrath, Sunil Warrier, Hayley R Hamilton, Timothy Beckman, Matthew G D'Mellow, Kelly M Brooks, William Glasson, Nicholas K Hayward, Antonia L Pritcha |
| Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition. Dermatology practical & conceptual 2024 8 14 (3): . Giada Ferrara, Salvatore Paiella, Giulio Settanni, Melissa Frizziero, Paolo Rosina, Valeria Viasso |
| Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma. Frontiers in oncology 2024 8 14 1419739. Stefania Martino, Simona De Summa, Brunella Pilato, Maria Digennaro, Letizia Laera, Stefania Tommasi, Margherita Patru |
| The landscape of rare genetic variants in familial Waldenström macroglobulinemia. Blood neoplasia 2024 7 1 (2): . Alexander Pemov, Jung Kim, Wen Luo, Jia Liu, Cole Graham, Kristine Jones, Delphine DeMangel, Neal D Freedman, Charles Dumontet, Bin Zhu, Mary L McMaster, Douglas R Stewa |
| POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program. European journal of human genetics : EJHG 2024 6 . Marta Baptista Freitas, Laurence Desmyter, Cindy Badoer, Guillaume Smits, Isabelle Vandernoot, Daphné T Kint de Roodenbe |
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