Homologous Recombination Deficiency Status in Epithelial Ovarian Cancer

  • STATUS
    Recruiting
  • End date
    Dec 7, 2022
  • participants needed
    1300
  • sponsor
    Lei Li
Updated on 21 February 2022
cancer
TP53
ATR
MLH1
ovarian cancer
PTEN
fanca
BRCA1/2
BRCA1
ATM
BRCA2
STK11
CDK12
palb2
fancl
rad51c
BRIP1
CHEK2
RAD54
EPCAM
FANCD2
RAD50
FAM175A
BARD1
MRE11A
MSH6
NBN
PMS2
FANCI
BAP1
CDH1
RAD51B
PPP2R2A
FANCC
CHEK1
MSH2
RAD51D
RAD54B
homologous recombination deficiency

Summary

The homologous recombination deficiency (HRD) status in Chinese population with epithelial ovarian cancer (EOC) is little known. This study would recruit 1300 Chinese EOC patients. A multi-panel testing of 36 genes would be given for these patients in their peripheral blood and tumor tissues. These 36 genes include: BRCA1, BRCA2, ABRAXAS1(FAM175A, ATM, ATR, BAP1, BARD1, BRIP1, C11ORF30EMSY, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCI, FANCL, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RAD54B, RAD54, MLH1, MSH2, MSH6, PMS2, EPCAM, STK11, TP53, CDH1. The study would select 150 patients with pathogenic or likely pathogenic mutations in BRCA1/2 and 150 patients without these mutations to further explore the HRD status. The HRD model is based on the loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large-scale state transitions (LST). The mutated genes, HRD score model and their relationship with the prognosis, would provide a full description of for the Chinese EOC patients.

Details
Condition Epithelial Ovarian Cancer, Chinese, Homologous Recombination Deficiency, BRCA1 Mutation, BRCA2 Mutation, Prognosis
Treatment Genomic testing
Clinical Study IdentifierNCT04190667
SponsorLei Li
Last Modified on21 February 2022

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