About 10%-20% of ovarian cancers have familial aggregation, suggesting that it may be
hereditary ovarian cancer. Exploring a genetic ovarian cancer risk prediction model
suitable for Chinese people will help quantify the risk of cancer in high risk groups and
guide preventive interventions. The clinicopathology, gene mutation and family history of
hereditary ovarian cancer need to be deeply analyzed, and the relevant research is still
in the initial stage in China. At the same time, in a small number of ovarian cancer
families with obvious familial aggregation, genetic testing failed to detect known
pathogenic/possible pathogenic mutations in the germ line, suggesting that there may be a
new pathogenic mechanism that needs further study.
Based on the above clinical issues, this project intends to establish a prospective
multicenter cohort of hereditary ovarian cancer. To describe the clinicopathological and
genetic mutation characteristics of hereditary ovarian cancer patients in China, and
guide the individualized diagnosis and treatment of patients. Through follow-up analysis
of clinicopathological information, gene mutation characteristics, detailed family
history and other factors, a suitable ovarian cancer risk prediction model was
established and preliminarily verified to guide the intervention management of high-risk
groups. Special genetic ovarian cancer families or early-onset ovarian cancer cases were
collected, and new tumor-causing mutations/susceptibility genes were explored through
gene sequencing analysis, and functional verification and preliminary mechanism studies
were conducted.
Relying on the National Clinical Research Center for Obstetrics and Gynecology, the
research team has been engaged in the clinical diagnosis, treatment and scientific
research of gynecological malignant tumors for a long time. In China, the gynecological
tumor genetic consultation clinic was established earlier, and there are mature platforms
for diagnosis, treatment and genetic blocking of hereditary ovarian cancer. Our research
group has initially established a genetic ovarian cancer cohort in our hospital, which
has included more than 1000 cases of patients with epithelial ovarian cancer and their
families who have received surgical treatment in our hospital since 2016. In September
2022, it led the establishment of a multi-center gynecological tumor genetic diagnosis
and treatment platform, with 11 sub-centers across the country working together to focus
on the diagnosis, treatment and research of hereditary gynecological tumors.
The development of this project will establish the ovarian cancer risk prediction model
suitable for Chinese people for the first time, and guide the prevention and intervention
of high-risk groups. Through special genetic ovarian cancer family mining, to explore the
new pathogenic mechanism of ovarian cancer, to guide the early diagnosis of hereditary
ovarian cancer; At the same time, it will promote the individualized and accurate
diagnosis and treatment of hereditary ovarian cancer patients.