Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation

Xiaomeng Jia,1,&ast; Shanshan Zhao,1,&ast; Xiang Li,2,&ast; Li Lv,3,&ast; Xin Chen,4 Evenki Pan,4 Qiuxiang Ou,4 Chen Song,1 Siwen Sun,1 Jinbo Zhao,1 Lingzhi Xu,1 Man Li1 1Department of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of Ch...

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Autores principales:	Jia X, Zhao S, Li X, Lv L, Chen X, Pan E, Ou Q, Song C, Sun S, Zhao J, Xu L, Li M
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a
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spelling	oai:doaj.org-article:8b977021a23b4cf2ac1b1253421e1d8a2021-11-28T19:13:10ZFavorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation1178-6930https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a2021-11-01T00:00:00Zhttps://www.dovepress.com/favorable-response-to-olaparib-in-a-patient-with-cancer-of-unknown-pri-peer-reviewed-fulltext-article-OTThttps://doaj.org/toc/1178-6930Xiaomeng Jia,1,&ast; Shanshan Zhao,1,&ast; Xiang Li,2,&ast; Li Lv,3,&ast; Xin Chen,4 Evenki Pan,4 Qiuxiang Ou,4 Chen Song,1 Siwen Sun,1 Jinbo Zhao,1 Lingzhi Xu,1 Man Li1 1Department of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 2Department of Radiology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 3Department of Pathology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 4Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, 210032, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Man Li; Lingzhi XuDepartment of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of ChinaTel +86-17709873580; +86-17709873532Email dmuliman@163.com; xvlingzhi@sina.comAbstract: The treatment options for cancer of unknown primary (CUP) are challenging due to the lack of knowledge about the primary sites, often resulting in a poor prognosis. The emerging next-generation sequencing (NGS) technique has provided a reliable approach to facilitate tumor primary site prediction and targetable gene alteration identification for CUP patients. In this report, we described a 63-year-old female patient who experienced recurrent CUP. NGS-based genetic profiling results revealed a pathogenic germline BRCA1 R71K mutation. Accordingly, the patient received the poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitor olaparib treatment and demonstrated a favorable response to this treatment. Our case suggests that NGS holds great promise for providing improved diagnosis and treatment options to patients with CUP, warranting further clinical investigation.Keywords: cancer of unknown primary, BRCA1 germline mutation, olaparib, next-generation sequencingJia XZhao SLi XLv LChen XPan EOu QSong CSun SZhao JXu LLi MDove Medical Pressarticlecancer of unknown primarybrca1 germline mutationolaparibnext-generation sequencingNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENOncoTargets and Therapy, Vol Volume 14, Pp 5353-5360 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
description	Xiaomeng Jia,1,&ast; Shanshan Zhao,1,&ast; Xiang Li,2,&ast; Li Lv,3,&ast; Xin Chen,4 Evenki Pan,4 Qiuxiang Ou,4 Chen Song,1 Siwen Sun,1 Jinbo Zhao,1 Lingzhi Xu,1 Man Li1 1Department of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 2Department of Radiology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 3Department of Pathology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 4Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, 210032, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Man Li; Lingzhi XuDepartment of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of ChinaTel +86-17709873580; +86-17709873532Email dmuliman@163.com; xvlingzhi@sina.comAbstract: The treatment options for cancer of unknown primary (CUP) are challenging due to the lack of knowledge about the primary sites, often resulting in a poor prognosis. The emerging next-generation sequencing (NGS) technique has provided a reliable approach to facilitate tumor primary site prediction and targetable gene alteration identification for CUP patients. In this report, we described a 63-year-old female patient who experienced recurrent CUP. NGS-based genetic profiling results revealed a pathogenic germline BRCA1 R71K mutation. Accordingly, the patient received the poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitor olaparib treatment and demonstrated a favorable response to this treatment. Our case suggests that NGS holds great promise for providing improved diagnosis and treatment options to patients with CUP, warranting further clinical investigation.Keywords: cancer of unknown primary, BRCA1 germline mutation, olaparib, next-generation sequencing
format	article
author	Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M
author_facet	Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M
author_sort	Jia X
title	Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
title_short	Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
title_full	Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
title_fullStr	Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
title_full_unstemmed	Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
title_sort	favorable response to olaparib in a patient with cancer of unknown primary carrying a germline brca1 r71k mutation
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a
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Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation

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