Germline PRDM1 Variant rs2185379 in Long-Term Recurrence-Free Survivors of Advanced Ovarian Cancer.

ABSTRACT:

Purpose

To identify the germline genetic characteristics of long-term recurrence-free survivors that can be applied to establishing a new strategy for curing advanced cancer, we investigated the whole-genome single nucleotide variants of ovarian cancer patients.

Patients and methods

DNA specimens were obtained from rare long-term recurrence-free survivors with FIGO stage III-IV ovarian cancer with no recurrence for 8-23 years after primary treatments for a whole-genome analysis of approximately 660,000 single nucleotide variants. We then established a mouse model with a notable gene alteration by CRISPR/Cas9 to confirm the biological role.

Results

The long-term recurrence-free survivors more frequently had germline heterozygous variant rs2185379 of the PRDM1 ge

SUBMITTER: Mitamura T 

PROVIDER: S-EPMC9719363 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature