Germline mutations in lung cancer.

Genetic testing for alterations in oncogenic driver genes has become essential and standard in the clinical practice of the treatment of lung cancer. Germline mutations potentially predisposing patients to lung cancer are rare; however, with the introduction of next-generation sequencing in the clinical practice of lung cancer, the identification of potentially predisposing germline abnormalities is becoming more common. In addition, liquid biopsy, which analyzes cell-free DNA in blood, increases the possibility of detecting these germline mutations. In this review, we summarize the germline mutations detected in lung cancer patients and briefly describe the future perspectives.

• Publication year

  2019

• Venue

  Respiratory Investigation

• Publication date

  2019-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.resinv.2018.12.005PMID 30639082
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation

  2018cited by this paper
• Metastatic non-small cell lung cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

  2018cited by this paper
• Characterization of germline mutations in familial lung cancer from the Chinese population.

  2018cited by this paper
• Discrimination of Germline EGFR T790M Mutations in Plasma Cell-Free DNA Allows Study of Prevalence Across 31,414 Cancer Patients

  2017cited by this paper
• Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor‐mutant lung cancer

  2017cited by this paper
• Lung Cancer Patients with Germline Mutations Detected by Next-Generation Sequencing and/or Liquid Biopsy.

  2017cited by this paper
• DNA mismatch repair deficiency in surgically resected lung adenocarcinoma: Microsatellite instability analysis using the Promega panel.

  2017cited by this paper
• Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients

  2017cited by this paper
• Identification of putative germline mutations in 10,288 patients undergoing circulating tumor DNA testing.

  2017cited by this paper
• Systemic Therapy for Stage IV Non-Small-Cell Lung Cancer: American Society of Clinical Oncology Clinical Practice Guideline Update.

  2017cited by this paper
• Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer

  2017cited by this paper
• Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

  2016cited by this paper
• Gene aberrations for precision medicine against lung adenocarcinoma

  2016cited by this paper
• Germline Mutation of T790M and Dual/Multiple EGFR Mutations in Patients With Lung Adenocarcinoma.

  2016cited by this paper
• A recurrent mutation in PARK2 is associated with familial lung cancer.

  2015cited by this paper
• Global cancer statistics, 2012

  2015cited by this paper
• Systemic Therapy for Stage IV Non-Small-Cell Lung Cancer: American Society of Clinical Oncology Clinical Practice Guideline Update.

  2015cited by this paper
• Germline EGFR T790M mutation found in multiple members of a familial cohort.

  2014cited by this paper
• High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families

  2014cited by this paper
• Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

  2014cited by this paper
• The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased risk of lung cancer in Chinese populations: case-control and a meta-analysis.

  2014cited by this paper
• A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer.

  2014cited by this paper
• Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients

  2014cited by this paper
• V843I, a Lung Cancer Predisposing EGFR Mutation, Is Responsible for Resistance to EGFR Tyrosine Kinase Inhibitors

  2014cited by this paper
• Hereditary Lung Cancer Syndrome Targets Never Smokers with Germline EGFR Gene T790M Mutations

  2014cited by this paper
• Novel Germline Mutation in the Transmembrane Domain of HER2 in Familial Lung Adenocarcinomas

  2013cited by this paper
• Activating germline R776H mutation in the epidermal growth factor receptor associated with lung cancer with squamous differentiation.

  2013cited by this paper
• Concurrent molecular alterations in tumors with germ line epidermal growth factor receptor T790M mutations.

  2013cited by this paper
• A dramatic lung cancer course in a patient with a rare EGFR germline mutation exon 21 V843I: Is EGFR TKI resistance predictable?

  2013cited by this paper
• Screening for Germline EGFR T790M Mutations Through Lung Cancer Genotyping

  2012cited by this paper
• Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: A novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma

  2011cited by this paper
• Familial lung adenocarcinoma caused by the EGFR V843I germ-line mutation.

  2011cited by this paper
• Inherited germline T790M mutation and somatic epidermal growth factor receptor mutations in non-small cell lung cancer patients.

  2011cited by this paper
• Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

  2011cited by this paper
• High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations

  2010cited by this paper
• Analysis of Genetic Variants in Never-Smokers with Lung Cancer Facilitated by an Internet-Based Blood Collection Protocol: A Preliminary Report

  2010cited by this paper
• Metastatic non-small-cell lung cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

  2010cited by this paper
• Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

  2009cited by this paper
• Synchronous lung tumours in a patient with metachronous colorectal carcinoma and a germline MSH2 mutation

  2009cited by this paper
• First case report of Muir–Torre syndrome associated with non-small cell lung cancer

  2009cited by this paper
• Novel germline mutation: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer.

  2008cited by this paper
• Novel NBS1 heterozygous germ line mutation causing MRE11-binding domain loss predisposes to common types of cancer.

  2007cited by this paper
• Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR

  2005cited by this paper
• EGFR mutation and resistance of non-small-cell lung cancer to gefitinib.

  2005cited by this paper
• Distinctive gene expression of human lung adenocarcinomas carrying LKB1 mutations

  2004cited by this paper
• Very high risk of cancer in familial Peutz-Jeghers syndrome.

  2000cited by this paper

• Genetic Ancestry and Lung Cancer in Latin American Patients: A Crucial Step for Understanding a Diverse Population.

  2025cites this paper
• Germline alterations in patients with lung cancer.

  2025cites this paper
• Therapeutic Efficacy of Nanocarrier‐Mediated Inhalable Gene Transfection for Lung Cancer

  2024cites this paper
• A Novel EGFR Germline Mutation in Lung Adenocarcinoma: Case Report and Literature Review.

  2024cites this paper
• Single nucleotide variants in lung cancer

  2024cites this paper
• Germline EGFR mutations in lung cancer (Review)

  2023cites this paper
• Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation

  2023cites this paper
• Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing

  2023cites this paper
• Genomic Profiling of Lung Adenocarcinoma in Never-Smokers

  2021cites this paper
• Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis

  2021cites this paper
• Polymorphisms and rare variants identified by next-generation sequencing confer risk for lung cancer in han Chinese population.

  2020cites this paper
• The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility

  2020cites this paper
• Relationship between heat treatment on structural properties and antitumor activity of the cold-water soluble polysaccharides from Grifola frondosa

  2019cites this paper