# Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients

## TL;DR

This study identifies specific cancer susceptibility genes and mutations in Chinese ovarian cancer patients, highlighting differences from Western populations and aiding in personalized treatment strategies.

## Contribution

The study reveals high-frequency mutation genes in Chinese ovarian cancer patients, such as MC1R and PRKDC, and identifies region-specific and clinically relevant mutations.

## Key findings

- MC1R and PRKDC are high-frequency ovarian cancer susceptibility genes in the Chinese population.
- BRCA2 c.8187G>T is a characteristic mutation in Chinese patients, and CHEK2 mutations are linked to early-onset ovarian cancer.
- CDH1 and FAM175A mutations are more common in Northeast China, and Fanconi anemia pathway genes are significantly associated with ovarian carcinogenesis.

## Abstract

The association between mutations in susceptibility genes and the occurrence of ovarian cancer has been extensively studied. Previous research has primarily concentrated on genes involved in the homologous recombination repair pathway, particularly BRCA1 and BRCA2. However, a wider range of genes related to the DNA damage response pathways has not been fully explored.

To investigate the mutation characteristics of cancer susceptibility genes in the Chinese ovarian cancer population and the associations between gene mutations and clinical data, this study initially gathered a total of 1171 Chinese ovarian cancer samples and compiled a dataset of germline mutations in 171 genes.

In this study, it was determined that MC1R and PRKDC were high-frequency ovarian cancer susceptibility genes in the Chinese population, exhibiting notable distinctions from those in European and American populations; moreover high-frequency mutation genes, such as MC1R: c.359T>C and PRKDC: c.10681T>A, typically had high-frequency mutation sites. Furthermore, we identified c.8187G>T as a characteristic mutation of BRCA2 in the Chinese population, and the CHEK2 mutation was significantly associated with the early onset of ovarian cancer, while the CDH1 and FAM175A mutations were more prevalent in Northeast China. Additionally, Fanconi anemia pathway-related genes were significantly associated with ovarian carcinogenesis.

In summary, this research provided fundamental data support for the optimization of ovarian cancer gene screening policies and the determination of treatment, and contributed to the precise intervention and management of patients.