AUTHOR=Wang Jie , Fu Kaiyu , Zhang Mengpei , Liang Lunggang , Ni Meng , Sun Hai-Xi , Yin Rutie , Tang Meifang 

TITLE=Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients

JOURNAL=Frontiers in Oncology

VOLUME=14

YEAR=2024

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1395818

DOI=10.3389/fonc.2024.1395818

ISSN=2234-943X

ABSTRACT=<sec><title>Introduction</title><p>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 <italic>BRCA1</italic> and <italic>BRCA2</italic>. However, a wider range of genes related to the DNA damage response pathways has not been fully explored.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>In this study, it was determined that <italic>MC1R</italic> and <italic>PRKDC</italic> 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 <italic>MC1R</italic>: c.359T&gt;C and <italic>PRKDC</italic>: c.10681T&gt;A, typically had high-frequency mutation sites. Furthermore, we identified c.8187G&gt;T as a characteristic mutation of <italic>BRCA2</italic> in the Chinese population, and the <italic>CHEK2</italic> mutation was significantly associated with the early onset of ovarian cancer, while the <italic>CDH1</italic> and <italic>FAM175A</italic> mutations were more prevalent in Northeast China. Additionally, Fanconi anemia pathway-related genes were significantly associated with ovarian carcinogenesis.</p></sec><sec><title>Conclusion</title><p>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.</p></sec>