Inherited lung cancer: a review

Alencar, Viviane Teixeira Loiola de; Formiga, Maria Nirvana; Lima, Vladmir Cláudio Cordeiro de

doi:10.3332/ecancer.2020.1008

Cited by 25 publications

(17 citation statements)

References 68 publications

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“…Recently, some germline genomic alterations have been associated with lung cancer syndromes, including EGFRT790M, TP53, BRCA, HER2, YAP1, and CHECK2 among others, 72 thus bringing back the question as to whether we should test for germline genetic alterations, especially in AYAs with lung cancer. NCCN and ESMO guidelines recommend performing germline analysis of EGFRT790M in patients with de novo somatic EGFRT790M mutation.…”

Section: Resultsmentioning

confidence: 99%

Genomic profiling in non-small-cell lung cancer in young patients. A systematic review

et al. 2021

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Lung cancer in young patients is an uncommon and understudied entity that harbors distinctive epidemiological, clinic-demographic, and genomic features. We carried out a systematic review of genomic profiling in young patients with lung cancer from 2010 to 2020 in the main electronic databases and selected 23 manuscripts. Lung cancer in young patients occurs more frequently in women with adenocarcinoma histology and at more advanced stages. Some studies report higher oncogenic genomic alteration in this population, with higher anaplastic lymphoma kinase rearrangements, a distinct profile of epidermal growth factor receptor mutations, and other novel genomic alterations. Although still uncommon, the implementation of next-generation sequencing (NGS) has shed some light on germline genomic alterations associated with lung cancer in young patients. Although outcomes when compared with the older population are conflicting, the overall prognosis is still poor in this subset of patients and efforts to find targetable genomic alterations should be made to improve survival.

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Section: Resultsmentioning

confidence: 99%

Genomic profiling in non-small-cell lung cancer in young patients. A systematic review

et al. 2021

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“…These observations indicate enrichment of germline p.T790M in EGFR -positive tumors. However, the ethnic difference might also contribute in part to the discrepant p.T790M frequencies, since it has been suggested that germline mutations in lung cancers are more common among patients from Caucasian than from Eastern Asian ( 22 ). Besides p.T790M, the pathogenic germline EGFR exon20 p.R776H and p.V769M identified in our cohort have also been reported in sporadic lung cancer cases ( 23 , 24 ); whereas pathogenic germline mutations MET exon16 p.H1094R, RET exon14 p.V804M and p.V804L, and likely pathogenic EGFR exon20 p.G719D are reported in lung cancer for the first time.…”

Section: Discussionmentioning

confidence: 99%

Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients

Yang

et al. 2021

Front. Oncol.

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IntroductionEmerging evidence has suggested that inherited factors are also involved in lung cancer development. However, most studies focused on well-elucidated cancer predisposition genes, the majority of which are tumor suppressor genes. The profile of germline mutations in oncogenic driver genes remains unrevealed, which might also provide potential clinical implications for lung cancer management.MethodsSequencing data from 36,813 unselected lung cancer patients who underwent somatic mutation profiling were retrospectively reviewed. All recruited patients had matched white blood cell samples sequenced in parallel using a capture-based panel including eight key lung cancer driver genes (epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), MET proto-oncogene, receptor tyrosine kinase (MET), Kirsten rat sarcoma viral oncogene homolog (KRAS), Erb-B2 receptor tyrosine kinase 2(ERBB2), ROS proto-oncogene 1, receptor tyrosine kinase (ROS1), ret proto-oncogene (RET), and B-Raf proto-oncogene, serine/threonine kinase (BRAF)). Likely pathogenic/pathogenic (LP/P) variants were called according to the classification criteria of the American College of Medical Genetics and Genomics. Variants of uncertain significance (VUS) located in the kinase domains of driver genes and occurring recurrently (n ≥3) were also included for further analyses.ResultsSeven different LP/P variants in EGFR, MET, or RET were identified in 0.03% of lung cancer patients (n = 14) and 25 different VUS in the kinase domains of seven driver genes (except KRAS) were found with a prevalence of 0.3% (n = 117).Collectively, germline mutations were most frequently seen in ROS1 (n = 31, 0.084%), followed by MET (n = 23, 0.062%), EGFR (n = 22, 0.06%), ALK (n = 22, 0.06%) and RET (n = 17, 0.046%). LP/P variants and VUS fell the most commonly in EGFR (n = 10, 72%) and ROS1 (n = 31, 26%), respectively. Of the 10 patients with EGFR LP/P germline mutation, 70% also acquired somatic EGFR driver mutation exon21 p.L858R or exon19 deletion at baseline; while the three patients with pathogenic germline RET mutation displayed distinct baseline somatic profiles of rare EGFR mutation or KRAS exon2 p.G12C. We discovered 11 germline mutations that also occurred somatically, including four LP/P variants and seven VUS.ConclusionWe present the first study to systemically characterize the germline mutation in oncogenic driver genes in a large cohort of unselected patients with lung cancers.

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“…The consumption of fruits and vegetables with a high content of antioxidant vitamins, phenolic compounds, minerals, and dietary fiber has a beneficial effect on respiratory health [10,11]. Incidence rates of lung cancer vary among world regions as a reflection of different historic patterns of tobacco exposure, which includes exposure intensity and duration, cigarette type and degree of inhalation, and the evolution of these patterns over time, commonly called the tobacco epidemic [12]. It should be noted that lung cancer in inactive smokers, i.e., passive smokers (25% of lung cancer cases worldwide), is a disease different from the more common forms of lung cancer associated with active smoking [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

“…Incidence rates of lung cancer vary among world regions as a reflection of different historic patterns of tobacco exposure, which includes exposure intensity and duration, cigarette type and degree of inhalation, and the evolution of these patterns over time, commonly called the tobacco epidemic [12]. It should be noted that lung cancer in inactive smokers, i.e., passive smokers (25% of lung cancer cases worldwide), is a disease different from the more common forms of lung cancer associated with active smoking [12][13][14]. Because tobacco remains the leading risk factor for lung cancer, prevention of this disease is focused on smoking avoidance and cessation.…”

Section: Introductionmentioning

confidence: 99%

Adherence to Prudent and Mediterranean Dietary Patterns Is Inversely Associated with Lung Cancer in Moderate But Not Heavy Male Polish Smokers: A Case-Control Study

et al. 2020

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Lung cancer is the most commonly diagnosed cancer in men worldwide. Studies regarding dietary patterns (DPs) and lung cancer are limited, with results remaining inconclusive, and the association of DPs with lung cancer in smokers is unclear. This study analyzed the associations between DPs, including the Polish-adapted Mediterranean diet (Polish-aMED) score, and lung cancer risk in Polish adult male smokers. This case-control study involved 439 men aged 45–80 years from northeastern Poland, including 187 newly diagnosed lung cancer cases. Dietary data was collected with a 62-item food frequency questionnaire (FFQ-6). Two approaches were applied to identify dietary patterns. The Polish-aMED score was calculated (hypothesis-driven approach) and a principal component analysis (PCA) was used to identify PCA-driven DPs (data-driven approach). A logistic regression analysis was performed to estimate the odds ratio (OR) and 95% confidence interval (95% CI) of the lung cancer risk associated with the adherence to DPs overall as well as for moderate (2.5–11 pack-years) and heavy (>11 pack-years) smokers. Among moderate smokers, the risk of lung cancer was lower by 41% (OR: 0.59; 95% CI: 0.39–0.90; p < 0.05; adjusted model) in the higher adherence to the prudent DP when compared to the lower adherence, and by 66% (OR: 0.34; 95% CI: 0.15–0.76; p < 0.05; adjusted model) in the high adherence (7–9 points) to the Polish-aMED score when compared to the low adherence (0–3 points). No significant association between the westernized traditional DP or the sweet dairy DP and lung cancer was revealed. In conclusion, the current study suggests that pro-healthy dietary patterns, including the Mediterranean pattern, may favour lower risk of lung cancer in moderate smokers, although it was not confirmed in heavy smokers.

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Inherited lung cancer: a review

Cited by 25 publications

References 68 publications

Genomic profiling in non-small-cell lung cancer in young patients. A systematic review

Genomic profiling in non-small-cell lung cancer in young patients. A systematic review

Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients

Adherence to Prudent and Mediterranean Dietary Patterns Is Inversely Associated with Lung Cancer in Moderate But Not Heavy Male Polish Smokers: A Case-Control Study

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