Document Type
Article
Publication Date
1-1-2020
Abstract
Background: Mutation-caused loss-of-function of factors involved in DNA damage response (DDR) is responsible for the development and progression of ~20% of prostate cancer (PCa). Some mutations can be used in cancer risk assessment and informed treatment decisions.
Methods: Target capture-based deep sequencing of 11 genes was conducted with total DNA purified from the proband's peripheral blood. Sanger sequencing was conducted to screen potential germline mutations in the proband's family members. Targeted sequencing of a panel of 1,021 genes was done with DNA purified from the tumor tissue.
Results: Two previously unreported germline mutations in the DDR pathway,
Conclusions: The newly identified germline mutations in DDR plays important role in PCa development. Since specific regimen worked well against this cancer, screening of DDR mutation could provide better management for patients with these mutation-mediated PCa.
Publication Title
Frontiers in Oncology
Volume
10
PubMed ID
33194641
Recommended Citation
Tang, Tang; Wang, Lin-Ang; Wang, Peng; Tong, Dali; Liu, Gaolei; Zhang, Jun; Dai, Nan; Zhang, Yao; Yuan, Gang; Geary, Kyla; Zhang, Dianzheng; Liu, Qiuli; and Jiang, Jun, "Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis." (2020). PCOM Scholarly Works. 2095.
https://digitalcommons.pcom.edu/scholarly_papers/2095
Comments
This article was published in Frontiers in Oncology, Volume 10.
The published version is available at https://doi.org/10.3389/fonc.2020.564694.
Copyright © 2020 Tang, Wang, Wang, Tong, Liu, Zhang, Dai, Zhang, Yuan, Geary, Zhang, Liu and Jiang. CC BY 4.0.