Human Genome Epidemiology Literature Finder
Heart, Lung, Blood and Sleep Disorders
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Query Trace: Fanconi Anemia[original query] |
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Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing. Journal of gastrointestinal oncology 2022 9 13 (4): 1864-1874. Li Qi, Zhang Qifan, Chen Jinzhang, Zang Mengya, Hu Xiaoyun, Li Rong, Hou Jinlin, Zhou J |
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 |
Rare germline deleterious variants increase susceptibility for lung cancer. Human molecular genetics 2022 Jun . Sang Jian, Zhang Tongwu, Kim Jung, Li Mengying, Pesatori Angela C, Consonni Dario, Song Lei, Liu Jia, Zhao Wei, Hoang Phuc H, Campbell Dave S, Feng James, D'Arcy Monica E, Synnott Naoise, Chen Yingxi, Wu Zeni, Zhu Bin, Yang Xiaohong R, Brown Kevin M, Choi Jiyeon, Shi Jianxin, Landi Maria Tere |
Distinct clinical and somatic mutational features of breast tumors with high-, low-, or non-expressing human epidermal growth factor receptor 2 status. BMC medicine 2022 4 20 (1): 142. Zhang Guochun, Ren Chongyang, Li Cheukfai, Wang Yulei, Chen Bo, Wen Lingzhu, Jia Minghan, Li Kai, Mok Hsiaopei, Cao Li, Chen Xiaoqing, Lin Jiali, Wei Guangnan, Li Yingzhi, Zhang Yuchen, Balch Charles M, Liao Ni |
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica 2022 4 108 (1): 69-82. Altintas Burak, Giri Neelam, McReynolds Lisa J, Best Ana, Alter Blanche |
Association of variations in the Fanconi anemia complementation group and prognosis in Non-small cell lung cancer patients with Platinum-based chemotherapy. Gene 2022 3 825 146398. Mo Jun-Luan, Liu Jia-Si, Xiao Qi, Hong Wen-Xu, Yin Ji-Ye, Chen Juan, Liu Zhao-Qi |
Clinical Benefit With PARP Inhibitor for Pathogenic Germline FANCA-Mutated Relapsed Epithelial Ovarian Cancer: A Case Report. Frontiers in oncology 2022 3 12 778545. Qian Bing, Leng Wenshu, Yan Zhengqing, Lu Jin, Chen Shiqing, Yi Huan, Jiang Z |
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG. International journal of molecular sciences 2022 2 23 (4): . Reyes Pedro, García-de Teresa Benilde, Juárez Ulises, Pérez-Villatoro Fernando, Fiesco-Roa Moisés O, Rodríguez Alfredo, Molina Bertha, Villarreal-Molina María Teresa, Meléndez-Zajgla Jorge, Carnevale Alessandra, Torres Leda, Frias Sa |
Serous Tubal Intraepithelial Carcinoma in a Risk-reducing Salpingo-oophorectomy Specimen From a RAD51D Mutation Carrier: A Case Report. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2022 2 42 (1): 89-92. Gregory-Davis Kalin J, Walker Allison, Colello Laura S, McKinnon Wendy, Everett Elise, Chang Martin |
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort. Clinica chimica acta; international journal of clinical chemistry 2022 12 539 41-49. Chang Lixian, Zhang Li, An Wenbin, Wan Yang, Cai Yuli, Lan Yang, Zhang Aoli, Liu Lipeng, Ruan Min, Liu Xiaoming, Guo Ye, Yang Wenyu, Chen Xiaojuan, Chen Yumei, Wang Shuchun, Zou Yao, Yuan Weiping, Zhu Xiaof |
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers. Cancer medicine 2022 11 . Mori Tomoharu, Okamoto Yusuke, Mu Anfeng, Ide Yoshimi, Yoshimura Akiyo, Senda Noriko, Inagaki-Kawata Yukiko, Kawashima Masahiro, Kitao Hiroyuki, Tokunaga Eriko, Miyoshi Yasuo, Ohsumi Shozo, Tsugawa Koichiro, Ohta Tomohiko, Katagiri Toyomasa, Ohtsuru Shigeru, Koike Kaoru, Ogawa Seishi, Toi Masakazu, Iwata Hiroji, Nakamura Seigo, Matsuo Keitaro, Takata Mino |
Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia. Leukemia 2022 Oct . Kubota Yasuo, Zawit Misam, Durrani Jibran, Shen Wenyi, Bahaj Waled, Kewan Tariq, Ponvilawan Ben, Mori Minako, Meggendorfer Manja, Gurnari Carmelo, LaFramboise Thomas, Feurstein Simone, Sekeres Mikkael A, Visconte Valeria, Godley Lucy A, Haferlach Torsten, Maciejewski Jaroslaw |
Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia. Frontiers in genetics 2022 1 12 799886. Zhang Yuxiang, Li Peng, Liu Nachuan, Jing Tao, Ji Zhiyong, Yang Chao, Zhao Liangyu, Tian Ruhui, Chen Huixing, Huang Yuhua, Zhi Erlei, Ou Ningjing, Bai Haowei, Zhou Yuchuan, Li Zheng, Yao Chenche |
DNA Repair Pathways and Their Association With Lethal Prostate Cancer in African American and European American Men. JNCI cancer spectrum 2022 02 6 (1): . Plym Anna, Dióssy Miklós, Szallasi Zoltan, Sartor Oliver, Silberstein Jonathan, Powell Isaac J, Rebbeck Timothy R, Penney Kathryn L, Mucci Lorelei A, Pomerantz Mark M, Kibel Adam |
BRCA2 Haploinsufficiency in Telomere Maintenance. Genes 2022 1 13 (1): . Gunnarsdottir Soffía R, Bjarnason Hördur, Thorvaldsdottir Birna, Paland Felice, Steinarsdottir Margrét, Eyfjörd Jórunn E, Bödvarsdottir Sigrídur |
A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer. Journal of cancer research and clinical oncology 2023 8 . Qiao-Yan Zhu, Pu-Chun Li, Yi-Fan Zhu, Jia-Ni Pan, Rong Wang, Xiao-Lin Li, Wei-Wu Ye, Xiao-Wen Ding, Xiao-Jia Wang, Wen-Ming C |
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 |
Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity. Blood 2023 5 . Elisabetta Molteni, Elisa Bono, Anna Galli, Chiara Elena, Jacqueline Ferrari, Nicolas Fiorelli, Sara Pozzi, Virginia Valeria Ferretti, Martina Sarchi, Ettore Rizzo, Virginia Camilotto, Emanuela Boveri, Mario Cazzola, Luca Malcova |
Univariate and multivariate genome-wide association studies for hematological traits in Murciano-Granadina goats. Animal genetics 2023 5 . Martina Macri, Maria Gracia Luigi-Sierra, Dailu Guan, Juan Vicente Delgado, Javier Fernández Alvarez, Marcel Amills, Amparo Martínez Martín |
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition. Cancer science 2023 4 . Yamazawa Kazuki, Sugano Kokichi, Tanakaya Kohji, Inoue Satomi, Murakami Haruka, Nakashima Moeko, Adachi Masataka, Oki Shinya, Makabe Takeshi, Yamashita Hiroshi, Ueki Arisa, Sasaoka Ayako, Nakashoji Ayako, Kinoshita Takayuki, Matsunaga Tatsuo, Arai Masami, Nakamura Seigo, Miyata Hiroaki, Ikegami Masachika, Mano Hiroyuki, Kohsaka Shinji, Matsui Aki |
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 |
Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population. International journal of molecular sciences 2023 2 24 (4): . Morales-Pison Sebastian, Morales-González Sarai, Fernandez-Ramires Ricardo, Tapia Julio C, Maldonado Edio, Calaf Gloria M, Jara Lili |
IL17A and IL17RA gene polymorphisms in Fanconi anemia. Brazilian oral research 2023 2 37 e012. Mobile Rafael Zancan, Mendes Monalisa Castilho, Machado-Souza Cleber, Queiroz Priscila de Mattos, Bonfim Carmem Maria Sales, Torres-Pereira Cassius Carvalho, Schussel Juliana Luce |
Most Fanconi anemia heterozygotes are not at increased cancer risk: a genome-first DiscovEHR cohort population study. Genetics in medicine : official journal of the American College of Medical Genetics 2023 12 101042. Joseph Deng, Burak Altintas, Jeremy S Haley, Jung Kim, Mark Ramos, David J Carey, Douglas R Stewart, Lisa J McReynol |
The enrichment of Fanconi anemia/homologous recombination pathway aberrations in ATM/ATR-mutated NSCLC was accompanied by unique molecular features and poor prognosis. Journal of translational medicine 2023 12 21 (1): 874. Wei Wei, Fangfang Shi, Yang Xu, Yang Jiao, Ying Zhang, Qiuxiang Ou, Xue Wu, Lingyi Yang, Jinhuo L |
[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position]. Gan to kagaku ryoho. Cancer & chemotherapy 2023 11 50 (10): 1089-1091. Seigo Yukisawa, Toshiyuki Kakinuma, Junko Yotsumoto, Kentaro Kawakami, Junji Furukawa, Hiroharu Shinoza |
Landscape of DNA damage response gene alterations in breast cancer: A comprehensive investigation. Cancer 2023 1 129 (6): 845-859. Jin Juan, Cao Jianing, Li Bin, Li Ting, Zhang Jian, Cao Jun, Zhao Mingchun, Wang Leiping, Wang Biyun, Tao Zhonghua, Hu Xich |
Genomic profiling of relapsed small cell lung cancer reveals potential pathways of therapeutic targets. Journal of thoracic disease 2024 1 15 (12): 6796-6805. Wen Ouyang, Jing Yu, Zihang Zeng, Jun Gong, Junhong Zhang, Conghua X |
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- Page last updated:May 13, 2024
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