Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

E-Poster Display

853P - The germline mutation landscape of DDR genes in Chinese patients with epithelial ovarian cancer


17 Sep 2020


E-Poster Display


Yu Gu


Annals of Oncology (2020) 31 (suppl_4): S551-S589. 10.1016/annonc/annonc276


Y. Gu1, Y. Jin1, Y. Li1, W. Wang1, Y. Shan1, C. Xue2, B. Wei3, X. Xu2, L. Pan1

Author affiliations

  • 1 Gynecologic Oncology, Peking Union Medical College Hospital, 100730 - Beijing/CN
  • 2 Medical Department, Precision Scientific (Beijing), Ltd., 100085 - Beijing/CN
  • 3 Bioinformatics Department, Precision Scientific (Beijing), Ltd., 100085 - Beijing/CN


Abstract 853P


The DNA damage repair (DDR) is one of the major mechanisms used to maintain genomic integrity. DNA repair deficiency has been recognized as a major hallmark of epithelial ovarian cancer (EOC). However, there is limit data on DDR gene mutation of EOC in Chinese patients. We performed a comprehensive analysis of the germline DDR variants of Chinese EOC patients.


Next-generation sequencing (NGS) of whole blood samples was conducted using a 36-gene panel in patients with histologically confirmed epithelial ovarian carcinoma, fallopian tube carcinoma or primary peritoneal cancer. The 36-gene panel included 28 homologous recombination repair (HRR) genes, 4 mismatch repair (MMR) genes and 3 other genes related to hereditary tumor.


In total, 110 germline mutations (including only likely pathogenic and pathogenic variant carriers) in DDR genes were observed in 450 EOC patients. Of the 450 EOC patients, 107 patients (23.8%) were gBRCAm carriers, and 32 patients (7.1%) were other germline DDR genes mutation carriers. Frameshift and nonsense variants were the most common deleterious types. The most common mutation in our study other than BRCA1/2 was RAD51D c.270_271dup (n = 8). Most of the gBRCA1m carriers were diagnosed in the age group of 40-59, while most of the gBRCA2m carriers were in the age group of 50-69. The gRAD51Dm carriers were all over 40 years old at the time of diagnosis. Table: 853P

Genes Mutation rates
BRCA1 18.2%
BRCA2 5.8%
RAD51D 2.4%
BRIP1 0.7%
ATM 0.4%
FANCI 0.4%
MSH2 0.4%
RAD50 0.4%
RAD54B 0.4%
RAD54L 0.4%
ATR 0.2%
CHEK2 0.2%
FANCA 0.2%
FANCD2 0.2%
NBN 0.2%
PALB2 0.2%
TP53 0.2%


This study revealed a comprehensive spectrum of DDR germline mutations of epithelial ovarian cancer in China. The major germline mutation of DDR genes in Chinese EOC patients was BRCA1, BRCA2, RAD51D and BRIP1. In agreement with previous studies of BRCA risks in epithelial ovarian cancer, the diagnosis age of BRCA1 mutation carriers was 10 years younger than that of BRCA2 carriers in China. RAD51D c.270_271dup mutation may be enriched in Chinese EOC populations.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.


Chinese Academy of Medical Sciences.


All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings