Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 31 Records) |
| Query Trace: Neoplasms and FANCI[original query] |
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| Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis 2009 Nov 30 (11): 1898-902. García María J, Fernández Victoria, Osorio Ana, Barroso Alicia, Fernández Fernando, Urioste Miguel, Benítez Javi |
| Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. Molecular oncology 2013 Feb 7 (1): 85-100. Litim Nadhir, Labrie Yvan, Desjardins Sylvie, Ouellette Geneviève, Plourde Karine, Belleau Pascal, , Durocher Franci |
| Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. PloS one 2013 8 (12): e81503. Mosley Jonathan D, Van Driest Sara L, Larkin Emma K, Weeke Peter E, Witte John S, Wells Quinn S, Karnes Jason H, Guo Yan, Bastarache Lisa, Olson Lana M, McCarty Catherine A, Pacheco Jennifer A, Jarvik Gail P, Carrell David S, Larson Eric B, Crosslin David R, Kullo Iftikhar J, Tromp Gerard, Kuivaniemi Helena, Carey David J, Ritchie Marylyn D, Denny Josh C, Roden Dan |
| Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. Oncotarget 2016 Jan . Lin Po-Han, Kuo Wen-Hung, Huang Ai-Chu, Lu Yen-Shen, Lin Ching-Hung, Kuo Sung-Hsin, Wang Ming-Yang, Liu Chun-Yu, Cheng Fiona Tsui-Fen, Yeh Ming-Hsin, Li Huei-Ying, Yang Yu-Hsuan, Hsu Yu-Hua, Fan Sheng-Chih, Li Long-Yuan, Yu Sung-Liang, Chang King-Jen, Chen Pei-Lung, Ni Yen-Hsuan, Huang Chiun-She |
| Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. Scientific reports 2017 9 7 (1): 10660. Chan Sock Hoai, Lim Weng Khong, Ishak Nur Diana Binte, Li Shao-Tzu, Goh Wei Lin, Tan Gek San, Lim Kiat Hon, Teo Melissa, Young Cedric Ng Chuan, Malik Simeen, Tan Mann Hong, Teh Jonathan Yi Hui, Chin Francis Kuok Choon, Kesavan Sittampalam, Selvarajan Sathiyamoorthy, Tan Patrick, Teh Bin Tean, Soo Khee Chee, Farid Mohamad, Quek Richard, Ngeow Joan |
| The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. PloS one 2017 12 (9): e0185615. Sung Pi-Lin, Wen Kuo-Chang, Chen Yi-Jen, Chao Ta-Chung, Tsai Yi-Fang, Tseng Ling-Ming, Qiu Jian-Tai Timothy, Chao Kuan-Chong, Wu Hua-Hsi, Chuang Chi-Mu, Wang Peng-Hui, Huang Chi-Ying |
| Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PLoS genetics 2018 Apr 14 (4): e1007355. Paulo Paula, Maia Sofia, Pinto Carla, Pinto Pedro, Monteiro Augusta, Peixoto Ana, Teixeira Manuel |
| Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. Journal of cancer research and clinical oncology 2018 10 144 (12): 2495-2513. Bonache Sandra, Esteban Irene, Moles-Fernández Alejandro, Tenés Anna, Duran-Lozano Laura, Montalban Gemma, Bach Vanessa, Carrasco Estela, Gadea Neus, López-Fernández Adrià, Torres-Esquius Sara, Mancuso Francesco, Caratú Ginevra, Vivancos Ana, Tuset Noemí, Balmaña Judith, Gutiérrez-Enríquez Sara, Diez Orla |
| Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. International journal of cancer 2018 Oct . Girard Elodie, Eon-Marchais Séverine, Olaso Robert, Renault Anne-Laure, Damiola Francesca, Dondon Marie-Gabrielle, Barjhoux Laure, Goidin Didier, Meyer Vincent, Le Gal Dorothée, Beauvallet Juana, Mebirouk Noura, Lonjou Christine, Coignard Juliette, Marcou Morgane, Cavaciuti Eve, Baulard Céline, Bihoreau Marie-Thérèse, Cohen-Haguenauer Odile, Leroux Dominique, Penet Clotilde, Fert-Ferrer Sandra, Colas Chrystelle, Frebourg Thierry, Eisinger François, Adenis Claude, Fajac Anne, Gladieff Laurence, Tinat Julie, Floquet Anne, Chiesa Jean, Giraud Sophie, Mortemousque Isabelle, Soubrier Florent, Audebert-Bellanger Séverine, Limacher Jean-Marc, Lasset Christine, Lejeune-Dumoulin Sophie, Dreyfus Hélène, Bignon Yves-Jean, Longy Michel, Pujol Pascal, Venat-Bouvet Laurence, Bonadona Valérie, Berthet Pascaline, Luporsi Elisabeth, Maugard Christine M, Noguès Catherine, Delnatte Capucine, Fricker Jean-Pierre, Gesta Paul, Faivre Laurence, Lortholary Alain, Buecher Bruno, Caron Olivier, Gauthier-Villars Marion, Coupier Isabelle, Servant Nicolas, Boland Anne, Mazoyer Sylvie, Deleuze Jean-François, Stoppa-Lyonnet Dominique, Andrieu Nadine, Lesueur Fabien |
| Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer. Frontiers in oncology 2019 8 9 673. Zhunussova Gulnur, Afonin Georgiy, Abdikerim Saltanat, Jumanov Abai, Perfilyeva Anastassiya, Kaidarova Dilyara, Djansugurova Ley |
| 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 |
| High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype. Cancers 2020 7 12 (7): . Machlowska Julita, Kapusta Przemys?aw, Baj Jacek, Morsink Folkert H M, Wo?kow Pawe?, Maciejewski Ryszard, Offerhaus G Johan A, Sitarz Robe |
| Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers 2020 4 12 (4): . Del Valle Jesús, Rofes Paula, Moreno-Cabrera José Marcos, López-Dóriga Adriana, Belhadj Sami, Vargas-Parra Gardenia, Teulé Àlex, Cuesta Raquel, Muñoz Xavier, Campos Olga, Salinas Mónica, de Cid Rafael, Brunet Joan, González Sara, Capellá Gabriel, Pineda Marta, Feliubadaló Lídia, Lázaro Con |
| Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Aging 2020 Feb 12 . Chen Bo, Zhang Guochun, Li Xuerui, Ren Chongyang, Wang Yulei, Li Kai, Mok Hsiaopei, Cao Li, Wen Lingzhu, Jia Minghan, Li Cheukfai, Guo Liping, Wei Guangnan, Lin Jiali, Li Yingzi, Zhang Yuchen, Han-Zhang Han, Liu Jing, Lizaso Analyn, Liao Ni |
| A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects. Human mutation 2021 Sep . George Merin, Solanki Avani, Chavan Niranjan, Rajendran Aruna, Raj Revathi, Mohan Sheila, Nemani Sandeep, Kanvinde Shailesh, Munirathnam Deendayalan, Rao Sudha, Radhakrishnan Nita, Lashkari Harsha Prasada, Ghildhiyal Radha Gulati, Manglani Mamta, Shanmukhaiah Chandrakala, Bhat Sunil, Ramesh Sowmyashree, Cherian Anchu, Junagade Pritesh, Vundinti Babu R |
| Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients. Genes 2021 Sep 12 (9): . Vergani Elisabetta, Frigerio Simona, Dugo Matteo, Devecchi Andrea, Feltrin Erika, De Cecco Loris, Vallacchi Viviana, Cossa Mara, Di Guardo Lorenza, Manoukian Siranoush, Peissel Bernard, Ferrari Andrea, Gallino Gianfrancesco, Maurichi Andrea, Rivoltini Licia, Sensi Marialuisa, Rodolfo Moni |
| Germline mutations in a DNA repair pathway are associated with familial colorectal cancer. JCI insight 2021 9 6 (18): . Xu Pingping, Sun Danfeng, Gao Yaqi, Jiang Yi, Zhong Ming, Zhao Gang, Chen Jinxian, Wang Zheng, Liu Qiang, Hong Jie, Chen Haoyan, Chen Ying-Xuan, Fang Jing-Yu |
| Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy. Pathology oncology research : POR 2021 9 27 1609809. Tian Xi, Xu Wen-Hao, Wu Jun-Long, Gan Hua-Lei, Wang Hong-Kai, Gu Wei-Jie, Qu Yuan-Yuan, Zhang Hai-Liang, Ye Ding-W |
| A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. Genome medicine 2021 12 13 (1): 186. Fierheller Caitlin T, Guitton-Sert Laure, Alenezi Wejdan M, Revil Timothée, Oros Kathleen K, Gao Yuandi, Bedard Karine, Arcand Suzanna L, Serruya Corinne, Behl Supriya, Meunier Liliane, Fleury Hubert, Fewings Eleanor, Subramanian Deepak N, Nadaf Javad, Bruce Jeffrey P, Bell Rachel, Provencher Diane, Foulkes William D, El Haffaf Zaki, Mes-Masson Anne-Marie, Majewski Jacek, Pugh Trevor J, Tischkowitz Marc, James Paul A, Campbell Ian G, Greenwood Celia M T, Ragoussis Jiannis, Masson Jean-Yves, Tonin Patricia |
| Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan. Oncology 2021 12 100 (3): 163-172. Fukushima Hiroko, Suzuki Ryoko, Yamaki Yuni, Hosaka Sho, Inaba Masako, Muroi Ai, Tsurubuchi Takao, Morii Wataru, Noguchi Emiko, Takada Hidetos |
| Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients. PLoS genetics 2022 Sep 18 (9): e1010373. Liang Yonghao, Chiu Peter Ka-Fung, Zhu Yao, Wong Christine Yim-Ping, Xiong Qing, Wang Lin, Teoh Jeremy Yuen-Chun, Cao Qin, Wei Yu, Ye Ding-Wei, Tsui Stephen Kwok-Wing, Ng Chi-F |
| Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry. JNCI cancer spectrum 2022 8 5 (1): . Chan Sock Hoai, Ni Ying, Li Shao-Tzu, Teo Jing Xian, Ishak Nur Diana Binte, Lim Weng Khong, Ngeow Joan |
| Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics. Frontiers in oncology 2022 12 709645. Yao Qianlan, Liu Yanhui, Zhang Lihua, Dong Lin, Bao Longlong, Bai Qianming, Cui Qian, Xu Jie, Li Min, Liu Jing, Chuai Shannon, Ying Jianming, Zhang Zhihong, Zhou Xiaoy |
| Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis. Frontiers in oncology 2023 7 13 1086266. Xiangpeng Meng, Jia Ma, Nan Meng, Tianyu Yun, Beifang N |
| Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma. Translational andrology and urology 2023 3 12 (2): 308-319. Feng Huayi, Cao Shouqing, Ouyang Qing, Li Huaikang, Li Xiubin, Chen Ke, Zhang Xiangyi, Huang Yan, Zhang Xu, Ma X |
| Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene. Genes 2023 2 14 (2): . Fierheller Caitlin T, Alenezi Wejdan M, Serruya Corinne, Revil Timothée, Amuzu Setor, Bedard Karine, Subramanian Deepak N, Fewings Eleanor, Bruce Jeffrey P, Prokopec Stephenie, Bouchard Luigi, Provencher Diane, Foulkes William D, El Haffaf Zaki, Mes-Masson Anne-Marie, Tischkowitz Marc, Campbell Ian G, Pugh Trevor J, Greenwood Celia M T, Ragoussis Jiannis, Tonin Patricia |
| Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 2023 1 17 (1): 2. Kim Jinyong, Jeong Kyeonghun, Jun Hyeji, Kim Kwangsoo, Bae Jeong Mo, Song Myung Geun, Yi Hanbaek, Park Songyi, Woo Go-Un, Lee Dae-Won, Kim Tae-Yong, Lee Kyung-Hun, Im Seock- |
| Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report. Surgical case reports 2024 8 10 (1): 191. Masazumi Inoue, Yasuhiro Tsubosa, Sumiko Ohnami, Kazunori Tokizawa, Shuhei Mayanagi, Keiichi Ohshima, Kenichi Urakami, Shumpei Ohnami, Takeshi Nagashima, Ken Yamaguc |
| Methylation marks in blood DNA reveal breast cancer risk in patients fulfilling hereditary disease criteria. NPJ precision oncology 2024 6 8 (1): 136. Miguel Ruiz-De La Cruz, Héctor Martínez-Gregorio, Clara Estela Díaz-Velásquez, Fernando Ambriz-Barrera, Norma Gabriela Resendiz-Flores, Rina Gitler-Weingarten, María Patricia Rojo-Castillo, Didier Pradda, Javier Oliver, Sandra Perdomo, Eva María Gómez-García, Aldo Hugo De La Cruz-Montoya, Luis Ignacio Terrazas, Gabriela Torres-Mejía, Fidel de la Cruz Hernández-Hernández, Felipe Vaca-Paniag |
| Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort. International journal of molecular sciences 2025 1 26 (1): . Barbara Anna Bokor, Aliasgari Abdolreza, Flóra Kaptás, Margit Pál, Zita Battyani, Márta Széll, Nikoletta Na |
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