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Dataset Information

Germline Mutations in Patients With Early-Onset Prostate Cancer.


ABSTRACT:

Objective

To investigate the inherited mutations and their association with clinical features and treatment response in young-onset prostate cancer patients.

Method

Targeted gene sequencing on 139 tumor susceptibility genes was conducted with a total of 24 patients diagnosed with PCa under the age of 63 years old. Meanwhile, the related clinical information of those patients is collected and analyzed.

Results

Sixty-two germline mutations in 45 genes were verified in 22 patients. BRCA2 (20.8%) and GJB2 (20.8%) were found to be the most frequently mutated, followed by CHEK2, BRCA1, PALB2, CDKN2A, HOXB13, PPM1D, and RECQL (8.3% of each, 2/24). Of note, 58.3% (14/24) patients carry germline mutations in DNA repair genes (DRGs). Four families wi

SUBMITTER: Tang T 

PROVIDER: S-EPMC9207501 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature