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Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

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1 Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma
Erin M. Parry, MD, PhD, Dustin L. Gable, BS, Susan E. Stanley, MD, PhD, Sara E. Khalil, BS, Valentin Antonescu, BS, Liliana Florea, PhD, Mary Armanios, MD  Journal of Thoracic Oncology  Volume 12, Issue 11, Pages (November 2017) DOI: /j.jtho Copyright © 2017 International Association for the Study of Lung Cancer Terms and Conditions

2 Figure 1 Approach to identifying germline cancer-predisposing mutations in sequenced lung adenocarcinoma cases. The flowchart delineates an a priori–designed strategy for identifying rare pathogenic variants; the boldface numbers indicate the number of cases examined and filtered. ATM, ATM serine/threonine kinase gene; BRCA2, BRCA2, DNA repair associated gene; CHEK2, checkpoint kinase 2 gene; PARK2, parkin RBR E3 ubiquitin protein ligase gene; TERT, telomerase reverse transcriptase gene; TP53, tumor protein p53 gene; YAP1, Yes associated protein 1 gene; TCGA, The Cancer Genome Atlas; MAF, minor allele frequency; dbSNP, Single Nucleotide Polymorphism database. Journal of Thoracic Oncology  , DOI: ( /j.jtho ) Copyright © 2017 International Association for the Study of Lung Cancer Terms and Conditions

3 Figure 2 Germline variants in lung adenocarcinoma cases. Schema of ATM serine/threonine kinase (ATM), BRCA2, DNA repair associated (BRCA2), EGFR, parkin RBR E3 ubiquitin protein ligase (PARK2), and tumor protein p53 (TP53) proteins, with the 12 unique pathogenic mutations marked at their relative amino acid position and the protein domains schematized. These occurred at a frequency of 2.5% in the studied cohort. Dagger refers to the two mutations identified in two separate individuals, ATM V2716A and TP53 R287Q. The relative frequencies of the mutations by gene are shown in the adjacent pie chart. Journal of Thoracic Oncology  , DOI: ( /j.jtho ) Copyright © 2017 International Association for the Study of Lung Cancer Terms and Conditions

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