2023
DOI: 10.3892/ol.2023.13868
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Germline EGFR mutations in lung cancer (Review)

Abstract: Lung cancer is the leading cause of cancerrelated death and familial lung cancer is a potential contributing factor. Epidermal growth factor receptor (EGFR) mutations are important events in carcinogenesis. The present study summarized the common germline mutations of EGFR, including T790M, V843I, R776H and P848L, and provided detailed information regarding each mutation site and potential treatment strategies. Individuals with germline mutations may develop lung cancer upon exposure to environmental stimuli s… Show more

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Cited by 9 publications
(4 citation statements)
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“…Additional examples include populations of African ancestry in which there is a potential association of BRCA2 in squamous NSCLC [ 26 ]. Conversely, EGFR T790M germline mutations are reported with decreased prevalence in East Asian populations in comparison to North American populations, despite it being the most frequently reported PGV in lung cancer [ 27 ]. Variance in rate is also observed based on type of cancer; for example, in Hispanic patients with prostate cancer, germline variants were identified in 3.8% of patients [ 28 ], and between 9.1% and 18.7% were identified in Hispanic patients with hereditary breast and/or ovarian cancer depending on their area of origin [ 18 ].…”
Section: Discussionmentioning
confidence: 99%
“…Additional examples include populations of African ancestry in which there is a potential association of BRCA2 in squamous NSCLC [ 26 ]. Conversely, EGFR T790M germline mutations are reported with decreased prevalence in East Asian populations in comparison to North American populations, despite it being the most frequently reported PGV in lung cancer [ 27 ]. Variance in rate is also observed based on type of cancer; for example, in Hispanic patients with prostate cancer, germline variants were identified in 3.8% of patients [ 28 ], and between 9.1% and 18.7% were identified in Hispanic patients with hereditary breast and/or ovarian cancer depending on their area of origin [ 18 ].…”
Section: Discussionmentioning
confidence: 99%
“…Germline mutations of the EGFR gene were also described [ 39 ], which, if present, increase the incidence of adenocarcinoma, mostly in the presence of additional somatic mutations. The 4 most common germline mutations are T790M (which is one of the most important causes of acquired TKI resistance), V843I, R776H, P848L, all point mutations.…”
Section: Gene Mutations and Copy Number Changesmentioning
confidence: 99%
“…Oxnard et al [ 148 ] demonstrated that the majority of EGFR T790M-related familial LCs are attributed to a relatively recent North American founder mutation, while the worldwide contribution of this allele in LC incidence is very low [ 148 150 ]. Several case reports described other LC-predisposing germline pathogenic variants in the EGFR gene [ 151 , 152 ].…”
Section: Germline Mutationsmentioning
confidence: 99%