Rare deleterious germline variants and risk of lung cancer

Neuropeptide receptor genes GHSR and NMUR1 are candidate epigenetic biomarkers and predictors for surgically treated patients with oropharyngeal cancer

(2020) Kiyoshi Misawa et al.   Scientific Reports

Protein-altering germline mutations implicate novel genes related to lung cancer development

(2020) Xuemei Ji et al.   Nature Communications

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

(2020) Jacquelyn Powers et al.   CANCER RESEARCH

Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk

(2020) Myvizhi Esai Selvan et al.   Journal of Thoracic Oncology

Bacteria-to-Human Protein Networks Reveal Origins of Endogenous DNA Damage

(2019) Jun Xia et al.   CELL

Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development

(2019) Yafang Li et al.   Oncotarget

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

(2019) Nick Shrine et al.   NATURE GENETICS

Genome‐wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk

(2019) Juncheng Dai et al.   INTERNATIONAL JOURNAL OF CANCER

Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q

(2019) Anthony M. Musolf et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Transcriptome‐wide association study reveals candidate causal genes for lung cancer

(2019) Yohan Bossé et al.   INTERNATIONAL JOURNAL OF CANCER

Leptin Modulates the Expression of miRNAs-Targeting POMC mRNA by the JAK2-STAT3 and PI3K-Akt Pathways

(2019) Adel Derghal et al.   Journal of Clinical Medicine

MPZL2 , Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

(2018) Mieke Wesdorp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association study of familial lung cancer

(2018) Jinyoung Byun et al.   CARCINOGENESIS

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

(2018) Guney Bademci et al.   HUMAN GENETICS

Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer

(2018) Yanhong Liu et al.   Journal of Thoracic Oncology

Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma

(2018) Zhaoxi Wang et al.   EBioMedicine

Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk

(2018) Xuemei Ji et al.   Nature Communications

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

(2018) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrated Analysis of Genetic Ancestry and Genomic Alterations across Cancers

(2018) Jiao Yuan et al.   CANCER CELL

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Different subtypes of EGFR exon19 mutation can affect prognosis of patients with non-small cell lung adenocarcinoma

(2018) Yingying Tian et al.   PLoS One

Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

(2017) Erin M. Parry et al.   Journal of Thoracic Oncology

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes

(2017) James D McKay et al.   NATURE GENETICS

EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non–Small Cell Lung Cancer Patients

(2016) Yong Won Choi et al.   AMERICAN JOURNAL OF CLINICAL ONCOLOGY-CANCER CLINICAL TRIALS

FastPop: a rapid principal component derived method to infer intercontinental ancestry using genetic data

(2016) Yafang Li et al.   BMC BIOINFORMATICS

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants

(2016) L. Shi et al.   CLINICAL GENETICS

Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

(2016) Lorelei A. Mucci et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer

(2016) Yanhong Liu et al.   Journal of Thoracic Oncology

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The downregulation of the RNA-binding protein Staufen2 in response to DNA damage promotes apoptosis

(2016) Xin Zhang et al.   NUCLEIC ACIDS RESEARCH

Irradiation Decreases the Neuroendocrine Biomarker Pro-Opiomelanocortin in Small Cell Lung Cancer Cells In Vitro and In Vivo

(2016) Suzanne L. Meredith et al.   PLoS One

A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer

(2015) Donghai Xiong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The UK Biobank

(2015) Paul M. Matthews et al.   BRAIN

Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci

(2015) Linda Kachuri et al.   CARCINOGENESIS

Deciphering associations for lung cancer risk through imputation and analysis of 12 316 cases and 16 831 controls

(2015) Yufei Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

(2015) Manon Delahaye-Sourdeix et al.   JNCI-Journal of the National Cancer Institute

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

(2015) Manon Delahaye-Sourdeix et al.   JNCI-Journal of the National Cancer Institute

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

(2014) Yufei Wang et al.   NATURE GENETICS

A Two-Dimensional Pooling Strategy for Rare Variant Detection on Next-Generation Sequencing Platforms

(2014) Philip C. Zuzarte et al.   PLoS One

Positive expression of pro-opiomelanocortin (POMC) is a novel independent poor prognostic marker in surgically resected non-small cell lung cancer

(2014) Ligang Hao et al.   TUMOR BIOLOGY

Neuroendocrine and epithelial phenotypes in small-cell lung cancer: implications for metastasis and survival in patients

(2013) R Stovold et al.   BRITISH JOURNAL OF CANCER

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

Downregulation of Hepatoma-Derived Growth Factor Contributes to Retarded Lung Metastasis via Inhibition of Epithelial-Mesenchymal Transition by Systemic POMC Gene Delivery in Melanoma

(2013) H.-E. Tsai et al.   MOLECULAR CANCER THERAPEUTICS

Molecules and circuits involved in nicotine addiction: The many faces of smoking

(2013) Marina R. Picciotto et al.   NEUROPHARMACOLOGY

Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

(2013) Timothy D. O’Connor et al.   PLoS One

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success

(2012) Li-Shiun Chen et al.   AMERICAN JOURNAL OF PSYCHIATRY

Increased risk of lung cancer in individuals with a family history of the disease: A pooled analysis from the International Lung Cancer Consortium

(2012) Michele L. Coté et al.   EUROPEAN JOURNAL OF CANCER

Two-Stage Extreme Phenotype Sequencing Design for Discovering and Testing Common and Rare Genetic Variants: Efficiency and Power

(2012) Guolian Kang et al.   HUMAN HEREDITY

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

(2012) Wendy Roeb et al.   HUMAN MOLECULAR GENETICS

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population

(2012) Jing Dong et al.   NATURE GENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Systematic exploration of error sources in pyrosequencing flowgram data

(2011) S. Balzer et al.   BIOINFORMATICS

A Case-Control Study of a Sex-Specific Association between a 15q25 Variant and Lung Cancer Risk

(2011) C. Wei et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies

(2011) Dalin Li et al.   GENETIC EPIDEMIOLOGY

Association of BRCA1 and BRCA2 Mutations With Survival, Chemotherapy Sensitivity, and Gene Mutator Phenotype in Patients With Ovarian Cancer

(2011) Da Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Nicotine excites hypothalamic arcuate anorexigenic proopiomelanocortin neurons and orexigenic neuropeptide Y neurons: similarities and differences

(2011) Hao Huang et al.   JOURNAL OF NEUROPHYSIOLOGY

Nicotine Decreases Food Intake Through Activation of POMC Neurons

(2011) Y. S. Mineur et al.   SCIENCE

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

(2011) André E Minoche et al.   GENOME BIOLOGY

Evolutionary evidence of the effect of rare variants on disease etiology

(2010) IP Gorlov et al.   CLINICAL GENETICS

Genetic Epidemiology of COPD (COPDGene) Study Design

(2010) Elizabeth A. Regan et al.   COPD-Journal of Chronic Obstructive Pulmonary Disease

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

Power analysis for case–control association studies of samples with known family histories

(2010) Bo Peng et al.   HUMAN GENETICS

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

(2010) Dajiang J. Liu et al.   PLoS Genetics

ATM polymorphisms and risk of lung cancer among never smokers

(2009) Yen-Li Lo et al.   LUNG CANCER

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants in Nicotinic Receptors and Risk for Nicotine Dependence

(2008) Laura Jean Bierut et al.   AMERICAN JOURNAL OF PSYCHIATRY

Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers

(2008) C. Cybulski et al.   CARCINOGENESIS

First-Line Gefitinib in Patients With Advanced Non–Small-Cell Lung Cancer Harboring SomaticEGFRMutations

(2008) Lecia V. Sequist et al.   JOURNAL OF CLINICAL ONCOLOGY

Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer

(2008) Pengyuan Liu et al.   JNCI-Journal of the National Cancer Institute

 -H2AX in recognition and signaling of DNA double-strand breaks in the context of chromatin

(2008) A. Kinner et al.   NUCLEIC ACIDS RESEARCH