Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

Slides:

Advertisements

Similar presentations

Lung Adenocarcinoma with Ipsilateral Breast Metastasis: A Simple Coincidence? Hsu-Ching Huang, MD, Jen-Fan Hang, MD, Mei-Han Wu, MD, Teh-Ying Chou, MD,

Advertisements

Massive Bronchogenic Cyst Joseph B. Levin, BA, Chi Wan Koo, MD, Jessica S. Donington, MD Journal of Thoracic Oncology Volume 5, Issue 11, Pages

Charles M. Rudin, MD, PhD, Alexander Drilon, MD, J.T. Poirier, PhD

Hereditary Lung Cancer Syndrome Targets Never Smokers with Germline EGFR Gene T790M Mutations Adi Gazdar, MD, Linda Robinson, MS, Dwight Oliver, MD,

Unique Genetic and Survival Characteristics of Invasive Mucinous Adenocarcinoma of the Lung Hyo Sup Shim, MD, PhD, Mari- Kenudson, MD, Zongli Zheng,

Exome-Wide Association Study Identifies Low-Frequency Coding Variants in 2p23.2 and 7p11.2 Associated with Survival of Non–Small Cell Lung Cancer Patients

T790M EGFR Mutation Detection in Cerebrospinal Fluid and Response to Osimertinib in a Lung Cancer Patient with Meningeal Carcinomatosis Hugo Gortais,

Novel Mutations on EGFR Leu792 Potentially Correlate to Acquired Resistance to Osimertinib in Advanced NSCLC Kai Chen, MD, Fei Zhou, MD, Wenxiang Shen,

Comprehensive Characterization of Oncogenic Drivers in Asian Lung Adenocarcinoma Shiyong Li, BS, Yoon-La Choi, MD, PhD, Zhuolin Gong, PhD, Xiao Liu, PhD,

Lung Adenocarcinoma Harboring EGFR T790M and In Trans C797S Responds to Combination Therapy of First- and Third-Generation EGFR TKIs and Shifts Allelic.

ALK FISH and IHC: You Cannot Have One without the Other

EGFR and KRAS Mutations in Triple-Mutated Lung Cancer

Detection and Monitoring of the BRAF Mutation in Circulating Tumor Cells and Circulating Tumor DNA in BRAF-Mutated Lung Adenocarcinoma Nicolas Guibert,

Jessica J. Lin, MD, Lauren L. Ritterhouse, MD, PhD, Siraj M

Detection of Discrepant Driver Mutations in a Patient with Two Synchronous Primary Non–Small Cell Lung Cancers (NSCLCs) with Liquid Biopsy Sotirios Lakis,

Durable Response to Tyrosine Kinase Inhibitor Therapy in a Lung Cancer Patient Harboring Epidermal Growth Factor Receptor Tandem Kinase Domain Duplication

Acquired BRAF V600E Mutation as Resistant Mechanism after Treatment with Third- Generation EGFR Tyrosine Kinase Inhibitor Alessandra Bearz, MD, Elisa.

T790M EGFR Mutation Detection in Cerebrospinal Fluid and Response to Osimertinib in a Lung Cancer Patient with Meningeal Carcinomatosis Hugo Gortais,

Susan C. Scott, MD, Nathan A. Pennell, MD, PhD

Evaluation of Kras Gene Mutation and Copy Number in Thymic Carcinomas and Thymomas Hidefumi Sasaki, MD, PhD, Motoki Yano, MD, PhD, Yoshitaka Fujii, MD,

Electronic Updates for JTO Readers

Geoffrey R. Oxnard, MD, Vincent A. Miller, MD, Mark E

Hybrid Capture–Based Genomic Profiling of Circulating Tumor DNA from Patients with Advanced Non–Small Cell Lung Cancer Alexa B. Schrock, PhD, Allison.

IA05.01 Lung Cancer Cases Journal of Thoracic Oncology

Genetic and Immune Profiles of Solid Predominant Lung Adenocarcinoma Reveal Potential Immunotherapeutic Strategies Zhong-Yi Dong, PhD, Chao Zhang, MD,

Custom Gene Capture and Next-Generation Sequencing to Resolve Discordant ALK Status by FISH and IHC in Lung Adenocarcinoma Jin Sung Jang, Xiaoke Wang,

A Case of Lung Adenocarcinoma Resistant to Crizotinib Harboring a Novel EML4-ALK Variant, Exon 6 of EML4 Fused to Exon 18 of ALK Satoshi Anai, MD, Masafumi.

Coexistence of the BRAF Mutation and EGFR Exon 20 Insertion in a Patient with Lung Adenocarcinoma Lih-Chyun Chang, MD, Kuan-Yu Chen, MD, PhD, Jin-Yuan.

Unique Genetic and Survival Characteristics of Invasive Mucinous Adenocarcinoma of the Lung Hyo Sup Shim, MD, PhD, Mari- Kenudson, MD, Zongli Zheng,

Central versus Peripheral Tumor Location: Influence on Survival, Local Control, and Toxicity Following Stereotactic Body Radiotherapy for Primary Non–Small-Cell.

Kelsie L. Thu, BSc, Raj Chari, PhD, William W

A Case of Invasive Mucinous Pulmonary Adenocarcinoma with a CD74-NRG1 Fusion Protein Targeted with Afatinib Parneet K. Cheema, MD, MBiotech, FRCPC Journal.

Comprehensive Computational Pathological Image Analysis Predicts Lung Cancer Prognosis Xin Luo, MD, Xiao Zang, BS, Lin Yang, MD, Junzhou Huang, PhD,

Charles M. Rudin, MD, PhD, Alexander Drilon, MD, J.T. Poirier, PhD

The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing Marieke Hylebos, MSc, Guy Van Camp, PhD, Jan P van.

A Novel EML4-ALK Variant: Exon 6 of EML4 Fused to Exon 19 of ALK

Emergence of Preexisting MET Y1230C Mutation as a Resistance Mechanism to Crizotinib in NSCLC with MET Exon 14 Skipping Sai-Hong Ignatius Ou, MD, PhD,

MEK1 and AKT2 Mutations in Japanese Lung Cancer

Association between Congenital Lung Malformations and Lung Tumors in Children and Adults: A Systematic Review Arianna Casagrande, MD, Federica Pederiva,

Erik Jakobsen, Maria Iachina, Karen Ege Olsen, Anders Green

Geographic Variation in EGFR Mutation Frequency in Lung Adenocarcinoma May Be Explained by Interethnic Genetic Variation Lars Soraas, MSc, Justin Stebbing,

The Prognostic Impact of KRAS, Its Codon and Amino Acid Specific Mutations, on Survival in Resected Stage I Lung Adenocarcinoma Benjamin Izar, MD, PhD,

Strategies to Improve Outcomes of Patients with EGFR-Mutant Non–Small Cell Lung Cancer: Review of the Literature Caicun Zhou, MD, PhD, Luan Di Yao, MD

Primary Double-Strike Therapy for Cancers to Overcome EGFR Kinase Inhibitor Resistance: Proposal from the Bench Kenichi Suda, MD, PhD, Paul A. Bunn,

Coexistence of Tyrosine Kinase Inhibitor-Sensitizing and Resistant EGFR Mutations in an Untreated Lung Adenocarcinoma Patient and Response to Erlotinib

Jessica J. Lin, MD, Stephanie Cardarella, MD, Christine A

Pembrolizumab-Induced Encephalopathy: A Review of Neurological Toxicities with Immune Checkpoint Inhibitors Sophie Feng, M.B.B.S., Jermaine Coward, PhD,

A Different Method in Diagnosis of Multiple Primary Lung Cancer

Nivolumab-Induced Acute Diabetes Mellitus and Hypophysitis in a Patient with Advanced Pulmonary Pleomorphic Carcinoma with a Prolonged Tumor Response

Appropriateness of Surgical Approach in Black Patients with Lung Cancer—15 Years Later, Little Has Changed Emanuela Taioli, MD, PhD, Raja Flores, MD

Vamsidhar Velcheti, MD Journal of Thoracic Oncology

Combination Treatment Using an EGFR Tyrosine Kinase Inhibitor plus Platinum-Based Chemotherapy for a Patient with Transformed Small Cell Carcinoma and.

Mitotic Inhibitors Journal of Thoracic Oncology

Aglaya G. Iyevleva, MD, PhD Journal of Thoracic Oncology

EGFR delE709_T710insD: A Rare but Potentially EGFR Inhibitor Responsive Mutation in Non–Small-Cell Lung Cancer Allison Ackerman, MD, Michael A. Goldstein,

Daniel B. Costa, MD, PhD, Susumu Kobayashi, MD, PhD

S768I Mutation in EGFR in Patients with Lung Cancer

Compound Uncommon EGFR Mutations in a Patient with Advanced NSCLC and Durable Response to Sequential EGFR Targeted Therapies Mary Linton B Peters, MD,

It’s All in the “Swerve of the Curve”

Phase I Study of Lenalidomide in Solid Tumors

Driven by Mutations: The Predictive Value of Mutation Subtype in EGFR-Mutated Non– Small Cell Lung Cancer Emily Castellanos, MD, Emily Feld, MD, Leora.

Daniel B. Costa, MD, PhD, Susan E. Jorge, PhD, Jason P

Impressive Response to Tyrosine Kinase Inhibitors in a Patient with Respiratory Failure for EGFR-Mutated Metastatic Lung Cancer Elena Bolzacchini, MD,

MET Exon 14 Alterations and New Resistance Mutations to Tyrosine Kinase Inhibitors: Risk of Inadequate Detection with Current Amplicon-Based NGS Panels

Deep Sequencing Analysis Reveals That KRAS Mutation Is a Marker of Poor Prognosis in Patients with Pulmonary Sarcomatoid Carcinoma Filippo Lococo, MD,

Good Response to Gefitinib in Lung Adenocarcinoma Harboring Coexisting EML4-ALK Fusion Gene and EGFR Mutation Yao-Wen Kuo, MD, Shang-Gin Wu, MD, Chao-Chi.

Two Rare Exon 21 EGFR Mutations in Patients Treated with Gefitinib

Hyun-Sung Lee, MD, PhD, Cynthia Y. Truong, BS, Bryan M. Burt, MD

Rogerio C. Lilenbaum, MD, John Cashy, PhD, Thomas A

Robert Comis, MD, The Passing of a “Lung Man”

Presentation transcript:

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 1673-1678 (November 2017) DOI: 10.1016/j.jtho.2017.08.011 Copyright © 2017 International Association for the Study of Lung Cancer Terms and Conditions

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 2017 12, 1673-1678DOI: (10.1016/j.jtho.2017.08.011) Copyright © 2017 International Association for the Study of Lung Cancer Terms and Conditions

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 2017 12, 1673-1678DOI: (10.1016/j.jtho.2017.08.011) Copyright © 2017 International Association for the Study of Lung Cancer Terms and Conditions