Literature DB >> 36163560

Case report: identification of EGFR R776H and FANCE R381H germline mutations in a patient with multiple pulmonary nodules.

Zhenzhen Wu1, Yanli Wang1, Linling Jin1, Juan Wei2, Li Han3, Junyan Su3, Shuliang Cao3, Siyao Liu3, Xiaohong Duan4, Xin Zhao5.   

Abstract

Pulmonary nodules evaluation is clinically crucial because they may be the early predictors of lung cancer. Except for CT screening and serum tumor biomarkers testing, genetic alteration analysis by next-generation sequencing (NGS) technology can also help to find cancer earlier. In this study, we report a case of multiple pulmonary nodules patient with EGFR R776H and FANCE R381H germline mutations. Her father, paternal aunt, and elder uncle harbored either one or both two mutations and were found with multiple pulmonary ground-glass or sub-solid nodules. Her 7-year-old daughter also inherited the same two mutations.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  EGFR R776H; FANCE R381H; Germline mutations; Multiple pulmonary nodules

Year:  2022        PMID: 36163560     DOI: 10.1007/s00432-022-04290-w

Source DB:  PubMed          Journal:  J Cancer Res Clin Oncol        ISSN: 0171-5216            Impact factor:   4.322


  12 in total

1.  Inherited germline T790M mutation and somatic epidermal growth factor receptor mutations in non-small cell lung cancer patients.

Authors:  Carmelo Tibaldi; Elisa Giovannetti; Enrico Vasile; Laura Boldrini; Marielle I Gallegos-Ruiz; Ilaria Bernardini; Roberto Incensati; Romano Danesi; Federico Cappuzzo; Godefridus J Peters; Gabriella Fontanini
Journal:  J Thorac Oncol       Date:  2011-02       Impact factor: 15.609

2.  Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients.

Authors:  Nathalie Prim; Michele Legrain; Eric Guerin; Bertrand Mennecier; Noelle Weingertner; Anne-Claire Voegeli; Dominique Guenot; Christine M Maugard; Anne-Elisabeth Quoix; Michele Beau-Faller
Journal:  Eur Respir Rev       Date:  2014-09

3.  Mechanistic Insights into R776H Mediated Activation of Epidermal Growth Factor Receptor Kinase.

Authors:  Zheng Ruan; Natarajan Kannan
Journal:  Biochemistry       Date:  2015-07-06       Impact factor: 3.162

4.  Probability of cancer in pulmonary nodules detected on first screening CT.

Authors:  Annette McWilliams; Martin C Tammemagi; John R Mayo; Heidi Roberts; Geoffrey Liu; Kam Soghrati; Kazuhiro Yasufuku; Simon Martel; Francis Laberge; Michel Gingras; Sukhinder Atkar-Khattra; Christine D Berg; Ken Evans; Richard Finley; John Yee; John English; Paola Nasute; John Goffin; Serge Puksa; Lori Stewart; Scott Tsai; Michael R Johnston; Daria Manos; Garth Nicholas; Glenwood D Goss; Jean M Seely; Kayvan Amjadi; Alain Tremblay; Paul Burrowes; Paul MacEachern; Rick Bhatia; Ming-Sound Tsao; Stephen Lam
Journal:  N Engl J Med       Date:  2013-09-05       Impact factor: 91.245

5.  Two cases of non-small cell lung cancer patients with somatic or germline EGFR R776H mutation.

Authors:  Tianxing Guo; Lihuan Zhu; Wujin Li; Rongjia Lin; Yun Ding; Qiaolin Kang; Lin Shao; Chanhe Li; Xiaojie Pan
Journal:  Lung Cancer       Date:  2021-05-31       Impact factor: 5.705

Review 6.  Evaluation of individuals with pulmonary nodules: when is it lung cancer? Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines.

Authors:  Michael K Gould; Jessica Donington; William R Lynch; Peter J Mazzone; David E Midthun; David P Naidich; Renda Soylemez Wiener
Journal:  Chest       Date:  2013-05       Impact factor: 9.410

Review 7.  Evaluating the Patient With a Pulmonary Nodule: A Review.

Authors:  Peter J Mazzone; Louis Lam
Journal:  JAMA       Date:  2022-01-18       Impact factor: 56.272

8.  Whole Exome Sequencing of Cell-Free DNA for Early Lung Cancer: A Pilot Study to Differentiate Benign From Malignant CT-Detected Pulmonary Lesions.

Authors:  Tina D Tailor; Xiayu Rao; Michael J Campa; Jing Wang; Simon G Gregory; Edward F Patz
Journal:  Front Oncol       Date:  2019-04-24       Impact factor: 6.244

9.  Clonal origins and parallel evolution of regionally synchronous colorectal adenoma and carcinoma.

Authors:  Tae-Min Kim; Chang Hyeok An; Je-Keun Rhee; Seung-Hyun Jung; Sung Hak Lee; In-Pyo Baek; Min Sung Kim; Sug Hyung Lee; Yeun-Jun Chung
Journal:  Oncotarget       Date:  2015-09-29

10.  RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Authors:  Ning Jiang; Jie Zhou; Wenhao Zhang; Peichao Li; Yu Liu; Hubo Shi; Chengke Zhang; Yunshan Wang; Chengjun Zhou; Chuanliang Peng; Weiquan Zhang; Yingtao Hao; Qifeng Sun; Yuliang Li; Xiaogang Zhao
Journal:  Thorac Cancer       Date:  2020-11-16       Impact factor: 3.223

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