Abstract 877P
Background
As the treatment of gynecological tumor patients moves further into personalized medicine, the need of determining the presence or absence of inherited mutations in cancer susceptibility genes has grown. We performed clinical genetic testing among Chinese patients with ovarian cancer, endometrial cancer and cervical cancer.
Methods
The study included 1631 Chinese patients (923 ovarian cancer, 339 endometrial cancer and 369 cervical cancer). Next generation sequencing (NGS) platform was used to determine the germline DNA sequences.
Results
15.8% of ovarian cancer patients, 10.6% of endometrial cancer patients and 3.5% of cervical cancer patients had pathogenic germline variants. Of note, 5.2% of ovarian cancer patients, 5% of endometrial cancer patients and 1.4% of cervical cancer patients with pathogenic germline variants were younger than 50 years old. Prevalent pathogenic variants in patients with ovarian cancer were BRCA1/2 (9.4%), homologous recombination repair (HRR) genes (1.8%), Lynch Syndrome (MMR) genes (0.7%), and SDHA(0.4%); Prevalent pathogenic variants in patients with endometrial cancer were MMR genes (4.4%), BRCA1/2 (3.2%), HRR genes (2%) and CDH1(0.6%); Prevalent pathogenic variants in patients with cervical cancer were BRCA1/2 (1.4%), HRR genes(0.5%), MMR genes(0.3%), APC(0.3%) and MUTYH(0.3%). Interestingly, 10.5% of ovarian cancer patients, 11.5% of endometrial cancer and 13.2% of cervical cancer had germline deletion in BIM (B cell lymphoma-2-like 11) gene.
Conclusions
In Chinese population, there were more patients with pathogenic germline variants in ovarian cancer and endometrial cancer than in cervical cancer. Those with BIM deletion polymorphism had similar proportion among different gynecological tumor patients.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Sun Yat-sen Memorial Hospital of Sun Yat-sen University.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.