A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review
Dan Li,1,* Xin Liu,1,* SaiQiong Cui,1 DaFu Yang,1 Yue Zhu,1 Evenki Pan,2 Peng Yang,2 ZhaoXia Dai1 1The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, Dalian, People’s Republic of China; 2Nanjing Geneseeq Technology Inc., Nanjing, People’s Republ...
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ftdovepress:oai:dovepress.com/81033 2023-05-15T16:09:10+02:00 A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review Li,Dan Liu,Xin Cui,SaiQiong Yang,DaFu Zhu,Yue Pan,Evenki Yang,Peng Dai,ZhaoXia 2023-01-18 text/html https://www.dovepress.com/a-primary-lung-and-breast-cancer-patient-with-germline-egfr-r776h-muta-peer-reviewed-fulltext-article-OTT en eng Dove Press info:eu-repo/semantics/altIdentifier/doi/10.2147/OTT.S391766 https://www.dovepress.com/a-primary-lung-and-breast-cancer-patient-with-germline-egfr-r776h-muta-peer-reviewed-fulltext-article-OTT info:eu-repo/semantics/openAccess OncoTargets and Therapy Case report info:eu-repo/semantics/article 2023 ftdovepress https://doi.org/10.2147/OTT.S391766 2023-01-22T18:31:01Z Dan Li,1,* Xin Liu,1,* SaiQiong Cui,1 DaFu Yang,1 Yue Zhu,1 Evenki Pan,2 Peng Yang,2 ZhaoXia Dai1 1The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, Dalian, People’s Republic of China; 2Nanjing Geneseeq Technology Inc., Nanjing, People’s Republic of China*These authors contributed equally to this workCorrespondence: ZhaoXia Dai, The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, No. 467, Zhongshan Road, Shahekou District, Dalian, People’s Republic of China, Email daizhaoxia@dmu.edu.cnAbstract: For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor (EGFR) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However, EGFR germline mutations are extremely rare in lung cancer, and the effective therapy is unclear. This study reports a patient with primary breast and lung cancer carried rare germline EGFR R776H and somatic L861Q mutation, who benefit from EGFR TKIs. Her family cancer history review demonstrated that her three out of four sisters with lung cancer were positive for EGFR R776H. Interestingly, only her healthy sister had type O blood, different from other sisters with type B blood. Our study provides a meaningful insight into the potential treatment option for patients with germline EGFR R776H and somatic L861Q mutation and highlights the importance of next-generation sequencing (NGS) in discovering rare genetic alterations to guide the prevention of genetic disease.Keywords: EGFR R776H, germline mutation, non-small cell lung cancer, Gefitinib, Osimertinib Article in Journal/Newspaper Evenki Dove Medical Press Evenki ENVELOPE(132.817,132.817,59.683,59.683) Zhongshan ENVELOPE(76.371,76.371,-69.373,-69.373) OncoTargets and Therapy Volume 16 17 22 |
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OncoTargets and Therapy Li,Dan Liu,Xin Cui,SaiQiong Yang,DaFu Zhu,Yue Pan,Evenki Yang,Peng Dai,ZhaoXia A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review |
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OncoTargets and Therapy |
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Dan Li,1,* Xin Liu,1,* SaiQiong Cui,1 DaFu Yang,1 Yue Zhu,1 Evenki Pan,2 Peng Yang,2 ZhaoXia Dai1 1The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, Dalian, People’s Republic of China; 2Nanjing Geneseeq Technology Inc., Nanjing, People’s Republic of China*These authors contributed equally to this workCorrespondence: ZhaoXia Dai, The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, No. 467, Zhongshan Road, Shahekou District, Dalian, People’s Republic of China, Email daizhaoxia@dmu.edu.cnAbstract: For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor (EGFR) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However, EGFR germline mutations are extremely rare in lung cancer, and the effective therapy is unclear. This study reports a patient with primary breast and lung cancer carried rare germline EGFR R776H and somatic L861Q mutation, who benefit from EGFR TKIs. Her family cancer history review demonstrated that her three out of four sisters with lung cancer were positive for EGFR R776H. Interestingly, only her healthy sister had type O blood, different from other sisters with type B blood. Our study provides a meaningful insight into the potential treatment option for patients with germline EGFR R776H and somatic L861Q mutation and highlights the importance of next-generation sequencing (NGS) in discovering rare genetic alterations to guide the prevention of genetic disease.Keywords: EGFR R776H, germline mutation, non-small cell lung cancer, Gefitinib, Osimertinib |
format |
Article in Journal/Newspaper |
author |
Li,Dan Liu,Xin Cui,SaiQiong Yang,DaFu Zhu,Yue Pan,Evenki Yang,Peng Dai,ZhaoXia |
author_facet |
Li,Dan Liu,Xin Cui,SaiQiong Yang,DaFu Zhu,Yue Pan,Evenki Yang,Peng Dai,ZhaoXia |
author_sort |
Li,Dan |
title |
A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review |
title_short |
A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review |
title_full |
A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review |
title_fullStr |
A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review |
title_full_unstemmed |
A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review |
title_sort |
primary lung and breast cancer patient with germline egfr r776h mutation: a case report and literature review |
publisher |
Dove Press |
publishDate |
2023 |
url |
https://www.dovepress.com/a-primary-lung-and-breast-cancer-patient-with-germline-egfr-r776h-muta-peer-reviewed-fulltext-article-OTT |
long_lat |
ENVELOPE(132.817,132.817,59.683,59.683) ENVELOPE(76.371,76.371,-69.373,-69.373) |
geographic |
Evenki Zhongshan |
geographic_facet |
Evenki Zhongshan |
genre |
Evenki |
genre_facet |
Evenki |
op_relation |
info:eu-repo/semantics/altIdentifier/doi/10.2147/OTT.S391766 https://www.dovepress.com/a-primary-lung-and-breast-cancer-patient-with-germline-egfr-r776h-muta-peer-reviewed-fulltext-article-OTT |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.2147/OTT.S391766 |
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OncoTargets and Therapy |
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Volume 16 |
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17 |
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22 |
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