Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study

BackgroundEpidemiological surveys have suggested that lung cancer has inherited susceptibility and shows familial aggregation. However, the distribution and prevalence of epidermal growth factor receptor (EGFR) germline variants and their roles in lung cancer genetic predisposition in Chinese popula...

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Autores principales:	Xinqing Lin, Muyun Peng, Quanfang Chen, Mingming Yuan, Rongrong Chen, Haiyi Deng, Jiaxi Deng, Ouqi Liu, Yuqing Weng, Mingjiu Chen, Chengzhi Zhou
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	genetic features EGFR treatment Chinese lung cancer patient germline mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/03bac14f4f624db28bc129999e332de8
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spelling	oai:doaj.org-article:03bac14f4f624db28bc129999e332de82021-11-16T07:48:09ZIdentification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study2234-943X10.3389/fonc.2021.774156https://doaj.org/article/03bac14f4f624db28bc129999e332de82021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.774156/fullhttps://doaj.org/toc/2234-943XBackgroundEpidemiological surveys have suggested that lung cancer has inherited susceptibility and shows familial aggregation. However, the distribution and prevalence of epidermal growth factor receptor (EGFR) germline variants and their roles in lung cancer genetic predisposition in Chinese population remain to be elucidated.MethodsIn this study, EGFR germline and somatic variants were retrospectively reviewed from the next-generation sequencing results of 31,906 patients with lung cancer. Clinical information was also collected for patients with confirmed EGFR germline mutations.ResultsA total of 22 germline EGFR variants were identified in 64 patients with lung cancer, accounting for 0.2% of the total cases studied. Five patients were diagnosed as multiple primary carcinomas. Family history was documented in 31.3% (20/64) of patients, 55% of which were diagnosed as lung cancer. G863D was the most frequent EGFR germline mutation, followed by P848L, D1014N, and K757R. Somatic EGFR-sensitive mutations were identified in 51.6% of patients with germline EGFR mutations. The proportion of L858R mutation, exon 19 deletion, and rare sensitive mutation was 50%, 17.6%, and 32.4%, respectively. D1014N and T790M mutations were common in young patients. The family members of patients with P848L, R776H, V769M, and V774M mutations were more commonly diagnosed with cancers. A total of 19 patients were confirmed to have received EGFR tyrosine kinase inhibitors (TKIs), but the response to EGFR-TKIs differed among patients with different EGFR mutations.ConclusionChinese patients with lung cancer harbored unique and dispersive EGFR germline mutations and showed unique clinical and genetic characteristics, with varied response patterns to EGFR-TKI treatment.Xinqing LinMuyun PengQuanfang ChenMingming YuanRongrong ChenHaiyi DengJiaxi DengOuqi LiuYuqing WengMingjiu ChenChengzhi ZhouFrontiers Media S.A.articlegenetic featuresEGFRtreatmentChinese lung cancer patientgermline mutationsNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	genetic features EGFR treatment Chinese lung cancer patient germline mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	genetic features EGFR treatment Chinese lung cancer patient germline mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Xinqing Lin Muyun Peng Quanfang Chen Mingming Yuan Rongrong Chen Haiyi Deng Jiaxi Deng Ouqi Liu Yuqing Weng Mingjiu Chen Chengzhi Zhou Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study
description	BackgroundEpidemiological surveys have suggested that lung cancer has inherited susceptibility and shows familial aggregation. However, the distribution and prevalence of epidermal growth factor receptor (EGFR) germline variants and their roles in lung cancer genetic predisposition in Chinese population remain to be elucidated.MethodsIn this study, EGFR germline and somatic variants were retrospectively reviewed from the next-generation sequencing results of 31,906 patients with lung cancer. Clinical information was also collected for patients with confirmed EGFR germline mutations.ResultsA total of 22 germline EGFR variants were identified in 64 patients with lung cancer, accounting for 0.2% of the total cases studied. Five patients were diagnosed as multiple primary carcinomas. Family history was documented in 31.3% (20/64) of patients, 55% of which were diagnosed as lung cancer. G863D was the most frequent EGFR germline mutation, followed by P848L, D1014N, and K757R. Somatic EGFR-sensitive mutations were identified in 51.6% of patients with germline EGFR mutations. The proportion of L858R mutation, exon 19 deletion, and rare sensitive mutation was 50%, 17.6%, and 32.4%, respectively. D1014N and T790M mutations were common in young patients. The family members of patients with P848L, R776H, V769M, and V774M mutations were more commonly diagnosed with cancers. A total of 19 patients were confirmed to have received EGFR tyrosine kinase inhibitors (TKIs), but the response to EGFR-TKIs differed among patients with different EGFR mutations.ConclusionChinese patients with lung cancer harbored unique and dispersive EGFR germline mutations and showed unique clinical and genetic characteristics, with varied response patterns to EGFR-TKI treatment.
format	article
author	Xinqing Lin Muyun Peng Quanfang Chen Mingming Yuan Rongrong Chen Haiyi Deng Jiaxi Deng Ouqi Liu Yuqing Weng Mingjiu Chen Chengzhi Zhou
author_facet	Xinqing Lin Muyun Peng Quanfang Chen Mingming Yuan Rongrong Chen Haiyi Deng Jiaxi Deng Ouqi Liu Yuqing Weng Mingjiu Chen Chengzhi Zhou
author_sort	Xinqing Lin
title	Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study
title_short	Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study
title_full	Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study
title_fullStr	Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study
title_full_unstemmed	Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study
title_sort	identification of the unique clinical and genetic features of chinese lung cancer patients with egfr germline mutations in a large-scale retrospective study
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/03bac14f4f624db28bc129999e332de8
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Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study

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