A novel somatic BRCA2 point mutation in a metastatic pancreatic cancer patient: a case report

BMC Medical Genomics

Deqiang Wang¹  Xiaoqin Li¹  Qing Tao¹  Sisi Liu²  Ruting Guan²  Man Yu³ 

[1] Department of Medical Oncology, Affiliated Hospital of Jiangsu University;Department of Research and Development, Nanjing Geneseeq Technology Inc.;Translational Medicine Research Institute, Geneseeq Technology Inc.;

关键词: BRCA2;    Olaparib;    Metastatic pancreatic cancer;    PARP inhibitor;    Somatic mutation;   

DOI  :  10.1186/s12920-020-00850-6

来源: DOAJ

【 摘 要 】

Abstract Background In addition to ovarian and breast cancers, loss-of-function mutations in BRCA1 and BRCA2 genes are also linked to an increased risk of pancreatic cancer, with ~ 4 to 7% of pancreatic cancer patients harboring germline BRCA mutations. Most BRCA alterations in pancreatic cancer are frame-shifting indels, stop-gain, and splice-site mutations, but single nucleotide substitutions are rare. Recent studies demonstrated a significant progression-free survival (PFS) benefit from maintenance olaparib, a poly (ADP-ribose) polymerase (PARP) inhibitor administered to patients with germline BRCA mutations and metastatic pancreatic cancer. Case presentation Here, we report a metastatic pancreatic cancer case who harbored a novel somatic BRCA2 c.6944T > C (p. I2315T) point mutation. After 6 weeks first-line chemotherapy, the patient was refractory to treatment and had a progressive disease. Due to the novel nonsynonymous BRCA2 point mutation, we decided to change the strategy by administering olaparib. The patient benefited from olaparib therapy and achieved a PFS of ~ 6.5 months. Conclusions We describe a patient carrying a novel somatic BRCA2 p. I2315T point mutation, which is first reported in metastatic pancreatic cancer. This case report indicates that a gene mutation-based strategy should be considered in the clinic to provide more effective treatment.

【 授权许可】

Unknown