Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 231 Records) |
Query Trace: Ataxia Telangiectasia[original query] |
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BRCA1 transports the DNA damage signal for CDDP-induced centrosome amplification through the centrosomal Aurora A. Cancer science 2022 9 113 (12): 4230-4243. Qi Huicheng, Kikuchi Megumi, Yoshino Yuki, Fang Zhenzhou, Ohashi Kazune, Gotoh Takato, Ideta Ryo, Ui Ayako, Endo Shino, Otsuka Kei, Shindo Norihisa, Gonda Kohsuke, Ishioka Chikashi, Miki Yoshio, Iwabuchi Tokuro, Chiba Natsu |
ATM c.7570G>C is a high-risk allele for breast cancer. International journal of cancer 2022 9 152 (3): 429-435. Kankuri-Tammilehto Minna, Tervasmäki Anna, Kraatari-Tiri Minna, Rahikkala Elisa, Pylkäs Katri, Kuismin Ou |
Molecular Features in Lymphatic Metastases Reflect the Metastasis Mechanism of Lymph Nodes With Non-Small-Cell Lung Cancers. Frontiers in bioengineering and biotechnology 2022 10 909388. Guo Nannan, Chen Yuanyuan, Jing Zhongying, Liu Siyao, Su Junyan, Li Ruilin, Duan Xiaohong, Chen Zhigong, Chen Ping, Yin Rongjiang, Li Shaojun, Tang Ji |
Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers. British journal of haematology 2022 8 199 (3): 371-381. Petrackova Anna, Savara Jakub, Turcsanyi Peter, Gajdos Petr, Papajik Tomas, Kriegova E |
Phase II study of ceralasertib (AZD6738) in combination with durvalumab in patients with advanced gastric cancer. Journal for immunotherapy of cancer 2022 7 10 (7): . Kwon Minsuk, Kim Gahyun, Kim Ryul, Kim Kyu-Tae, Kim Seung Tae, Smith Simon, Mortimer Peter G S, Hong Jung Yong, Loembé Arsene-Bienvenu, Irurzun-Arana Itziar, Koulai Loumpiana, Kim Kyoung-Mee, Kang Won Ki, Dean Emma, Park Woong-Yang, Lee Jeey |
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394?694 UK Biobank exomes. Genes, chromosomes & cancer 2022 4 61 (9): 523-529. Jiang Xiao, O'Neill Amanda, Smith Katherine R, Lai Zhongwu, Carss Keren, Wang Quanli, Petrovski Sla |
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India. Scientific reports 2022 3 12 (1): 4036. Rawat Amit, Tyagi Rahul, Chaudhary Himanshi, Pandiarajan Vignesh, Jindal Ankur Kumar, Suri Deepti, Gupta Anju, Sharma Madhubala, Arora Kanika, Bal Amanjit, Madaan Priyanka, Saini Lokesh, Sahu Jitendra Kumar, Ogura Yumi, Kato Tamaki, Imai Kohsuke, Nonoyama Shigeaki, Singh Surj |
Olaparib and celarasertib (AZD6738) in patients with triple negative advanced breast cancer: results from Cohort E of the plasmaMATCH trial (CRUK/15/010). Clinical cancer research : an official journal of the American Association for Cancer Research 2023 9 . Alistair Ring, Lucy S Kilburn, Alex Pearson, Laura Moretti, Angelica Afshari-Mehr, Andrew M Wardley, Bora Gurel, Iain R Macpherson, Ruth Riisnaes, Richard D Baird, Sue Martin, Rebecca Roylance, Hannah Johnson, Ana Ferreira, Matthew C Winter, Kathryn Dunne, Ellen Copson, Tamas Hickish, Russell Burcombe, Kat Randle, Violeta Serra, Alba Llop-Guevara, Judith M Bliss, Nicholas C Turn |
Higher 13-Gene-Estimated TMB Detected from Plasma ctDNA is Associated with Worse Outcome for T-Cell Lymphoma Patients. Advanced biology 2023 9 e2300042. Cunte Chen, Ling Huang, Zheng Chen, Qiuxiang Ou, Sichu Liu, Xinmiao Jiang, Feili Chen, Xiaojuan Wei, Hanguo Guo, Yang Shao, Chengwu Zeng, Yangqiu Li, Wenyu |
SETD2 loss and ATR inhibition synergize to promote cGAS signaling and immunotherapy response in renal cell carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 8 . Xian-De Liu, Yan-Ting Zhang, Daniel J McGrail, Xuesong Zhang, Truong Lam, Anh Hoang, Elshad Hasanov, Ganiraju Manyam, Christine B Peterson, Haifeng Zhu, Shwetha V Kumar, Rehan Akbani, Patrick G Pilie, Nizar M Tannir, Guang Peng, Eric Jonas |
Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer. European urology open science 2023 6 52 72-78. Rafael Grochot, Suzanne Carreira, Susana Miranda, Ines Figueiredo, Claudia Bertan, Jan Rekowski, Wei Yuan, Ana Ferreira, Ruth Riisnaes, Antje Neeb, Bora Gurel, Maria de Los Dolores Fenor de la Maza, Christina Guo, Juliet Carmichael, Daniel Westaby, Joaquin Mateo, Adam Sharp, Terri P McVeigh, Johann De Bo |
Clinical Implication of DNA Damage Response Genes in Advanced Gastric Cancer Stage IV and Recurrent Gastric Cancer Patients After Gastrectomy Treated Palliative Chemotherapy. Journal of Cancer 2023 5 14 (7): 1216-1222. Jeong Eun Kim, Song Ee Park, Hee Jun Kim, In Gyu Hwa |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent. European journal of medical genetics 2023 4 104766. Sweta Das, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Anitha M Barney, Suneetha Susan Cleave A, Atanu Kumar Dutta, Rekha A, Sony Mohan, Sumita Dan |
CHARIOT: a phase I study of berzosertib with chemoradiotherapy in oesophageal and other solid cancers using time to event continual reassessment method. British journal of cancer 2023 12 . S R Javed, S Lord, S El Badri, R Harman, J Holmes, F Kamzi, T Maughan, D McIntosh, S Mukherjee, A Ooms, G Radhakrishna, P Shaw, M A Hawki |
Whole exome sequencing in Chinese mucinous pulmonary adenocarcinoma uncovers specific genetic variations different from lung adenocarcinoma. Frontiers in oncology 2023 1 12 1054845. Zhang Chenyue, Wang Kai, Liu Wenjie, Lin Jiamao, Li Zhenxiang, Wang Hui, Zhao Chenglong, Chen Yanhua, Wu Shuangxiu, Yang Airong, Wu Jiayan, Wang Haiyo |
Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase. Redox biology 2024 9 77 103347. Lorenzo Loffredo, Annarosa Soresina, Bianca Laura Cinicola, Martina Capponi, Francesca Salvatori, Simona Bartimoccia, Vittorio Picchio, Maurizio Forte, Caterina Caputi, Roberto Poscia, Vincenzo Leuzzi, Alberto Spalice, Pasquale Pignatelli, Raffaele Badolato, Marzia Duse, Francesco Violi, Roberto Carnevale, Anna Maria Zicari, |
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. American journal of human genetics 2024 9 . Marcy E Richardson, Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B Spurdle, Sean V Tavtigian, Colin C Young, Lauren Zec, Susan Hiraki, Michael J Anderson, Logan C Walker, Shannon McNulty, Clare Turnbull, Marc Tischkowitz, Katherine Schon, Thomas Slavin, William D Foulkes, Melissa Cline, Alvaro N Monteiro, Tina Pesaran, Fergus J Cou |
Genotype-Directed Synthetic Cytotoxicity of ATR Inhibition with Radiotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 OF1-OF14. Victor Ng, Sonali Sinha, Ardijana Novaj, Jennifer Ma, Niamh McDermott, Xin Pei, Ana Leda F Longhini, Helen Grimsley, Rui Gardner, Ezra Rosen, Simon N Powell, Fresia Pareja, Diana Mandelker, Atif Khan, Jeremy Setton, Anne Roulston, Stephen Morris, Maria Koehler, Nancy Lee, Jorge Reis-Filho, Nadeem Ri |
Ataxia telangiectasia-mutated rs56009889 and risk of common cancers. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2024 8 . Ofra Barnet-Griness, Stephen B Gruber, Steven M Lipkin, Katerina Shulman, Riad Haddad, Ronen Galili, Gad Renne |
Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer. Cancer genetics 2024 7 286-287 43-47. Mario ?uk, Busra Unal, Connor P Hayes, McKenzie Walker, An?ela Bevanda, Viktorija Antolovi?, Arezou A Ghaza |
Impact of homologous recombination repair/BReast CAncer (BRCA) gene alterations on survival in a real-world setting of metastatic prostate cancer. BJU international 2024 7 . Mike Wenzel, Benedikt Hoeh, Florestan Koll, Clara Humke, Anne Fassl, Henning Reis, Peter Wild, Thomas Steuber, Markus Graefen, Derya Tilki, Miriam Traumann, Severine Banek, Felix K H Chun, Philipp Mand |
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. medRxiv : the preprint server for health sciences 2024 6 . Marcy E Richardson, Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B Spurdle, Sean V Tavtigian, Colin C Young, Lauren Zec, Susan Hiraki, Michael J Anderson, Logan C Walker, Shannon McNulty, Clare Turnbull, Marc Tischkowitz, Katherine Schon, Thomas Slavin, William D Foulkes, Melissa Cline, Alvaro N Monteiro, Tina Pesaran, Fergus J Cou |
Identification of ATM Mutation as a Potential Prognostic Biomarker for Immune Checkpoint Inhibitors Therapy. Current cancer drug targets 2024 5 24 (5): 501-509. Saijin Cui, Tianyu Chen, Yaning Zhao, Zhuoyun Xiao, Meitong Liu, Xi Huang, Shiru Cao, Rongmiao Zhou, You Li, Xiangran Huo, Na Wa |
Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia-Telangiectasia Mutated Variant Carriers. Cancers 2024 4 16 (7): . Rayan Bensenane, Arnaud Beddok, Fabienne Lesueur, Alain Fourquet, Mathilde Warcoin, Marine Le Mentec, Eve Cavaciuti, Dorothée Le Gal, Séverine Eon-Marchais, Nadine Andrieu, Dominique Stoppa-Lyonnet, Youlia Kiro |
Clinical characteristics of BRAT1-related disease: a systematic literature review. Acta neurologica Belgica 2024 4 . Weijing Kong, Xianying Cao, Cheng |
Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers. Revista da Associacao Medica Brasileira (1992) 2024 10 70 (10): e20240534. Ferah Kazanci, Zerrin Y?lmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride ?ffet ?ahin, Mehmet Anil On |
Causative mechanisms and clinical impact of immunoglobulin deficiencies in Ataxia Telangiectasia. The Journal of allergy and clinical immunology 2024 1 . Sanami Takada, Thomas J Weitering, Nienke J H van Os, Likun Du, Ingrid Pico-Knijnenburg, Thomas B Kuipers, Hailiang Mei, Elisabeth Salzer, Michèl A A P Willemsen, Corry M R Weemaes, Qiang Pan-Hammarstrom, Mirjam van der Bu |
Effects of Ataxia-Telangiectasia Mutated Variants on Radionecrosis and Local Control After Stereotactic Radiation Surgery for Non-Small Cell Lung Cancer Brain Metastases. Advances in radiation oncology 2024 1 9 (1): 101320. Warren Floyd, David Carpenter, Eugene Vaios, Rachel Shenker, Peter Hendrickson, Justus D Adamson, William M Giles, Chunhao Wang, Karen Allen, Trey Mullikin, Scott R Floyd, John P Kirkpatrick, Michelle Green, Zachary J Reitm |
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 |
- Page last reviewed:Feb 1, 2024
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