Rare germline deleterious variants increase susceptibility for lung cancer

Cancer Statistics, 2021

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Characterization of rare germline variants in familial multiple myeloma

(2021) Calogerina Catalano et al.   Blood Cancer Journal

Rare deleterious germline variants and risk of lung cancer

(2021) Yanhong Liu et al.   npj Precision Oncology

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility

(2021) Sally Yepes et al.   Cancers

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

(2020) Deepak N. Subramanian et al.   Nature Communications

Exploring human genomic diversity with gnomAD

(2020) Linda Koch   NATURE REVIEWS GENETICS

Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer

(2020) Burcu F Darst et al.   JNCI-Journal of the National Cancer Institute

Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk

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

Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for germline cutaneous melanoma susceptibility

(2020) Sally Yepes et al.   Scientific Reports

Exome sequencing of Finnish isolates enhances rare-variant association power

(2019) Adam E. Locke et al.   NATURE

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

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

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

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

(2018) Thorunn Rafnar et al.   JNCI-Journal of the National Cancer Institute

Rare, pathogenic germline variants in Fanconi Anemia genes increase risk for squamous lung cancer

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Mechanisms of DNA damage, repair, and mutagenesis

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Rare germline variants in known melanoma susceptibility genes in familial melanoma

(2017) Alisa M Goldstein et al.   HUMAN MOLECULAR GENETICS

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

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

(2016) Xiaohong R. Yang et al.   HUMAN GENETICS

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

PathCards: multi-source consolidation of human biological pathways

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Trimmomatic: a flexible trimmer for Illumina sequence data

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

(2014) Yufei Wang et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

Causal analysis approaches in Ingenuity Pathway Analysis

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Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

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Human Tribbles 3 Protects Nuclear DNA from Cytidine Deamination by APOBEC3A

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Tribbles in disease: Signaling pathways important for cellular function and neoplastic transformation

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Sec16B is involved in the endoplasmic reticulum export of the peroxisomal membrane biogenesis factor peroxin 16 (Pex16) in mammalian cells

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

(2009) Maria Teresa Landi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Environment And Genetics in Lung cancer Etiology (EAGLE) study: An integrative population-based case-control study of lung cancer

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Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

(2008) Julius Gudmundsson et al.   NATURE GENETICS