Open AccessFavorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
Author(s) -
xiaomeng jia,
Shanshan Zhao,
Xiang Li,
Li Lv,
Xin Chen,
Evenki Pan,
Qiuxiang Ou,
Chunyan Song,
Shutao Sun,
Jinbo Zhao,
Lingzhi Xu,
Man Li
Publication year - 2021
Publication title -
oncotargets and therapy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.054
H-Index - 60
ISSN - 1178-6930
DOI - 10.2147/ott.s334847
Subject(s) - olaparib , germline , medicine , parp inhibitor , germline mutation , mutation , cancer , cancer research , dna sequencing , oncology , poly adp ribose polymerase , computational biology , bioinformatics , genetics , polymerase , gene , biology
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.