Objective
To investigate the relationship between
BRCA1/2
gene mutation and clinicopathological features in ovarian cancer patients, so as to develop precise individualized treatment plan for patients.
Methods
Patients diagnosed with ovarian cancer between January 2018 and July 2023 who underwent
BRCA1/2
genetic testing were retrospectively analyzed. The clinicopathological characteristics (age, body mass index (BMI), family history of ovarian cancer, pregnancy history, menopause status, tumor size, histopathology, Federation of Gynecology and Obstetrics (FIGO) staging, and ascites) of non-carriers and
BRCA1/2
variant carriers were compared. Logistic regression analysis was used to explore the relationship between
BRCA1/2
variants and clinicopathological characteristics of ovarian cancer.
Results
A total of 284 ovarian cancer patients were collected, and the subjects were divided into two groups, 197 non-carriers and 87
BRCA1/2
variants carriers. The proportion of serous ovarian carcinoma in
BRCA1/2
variant carriers is higher than that in non-
BRCA
variant carriers (78.2% vs 60.9%,
p
=0.015). There were 51 patients with
BRCA
pathogenic or likely pathogenic variant, 22 patients with
BRCA
likely benign variant, and 14 patients with
BRCA
variants of uncertain significance (VUS). The proportion of serous ovarian carcinoma in patients with
BRCA
pathogenic/likely pathogenic variant is higher than that in patients with
BRCA
likely benign variant and
BRCA
VUS (94.1% vs 50.0% and 64.3%.
p
<0.001). There were no statistically significant differences in BMI, family history of ovarian cancer, pregnancy history, menopause status, maximum diameter of the tumor lesion, FIGO stage, and ascites among patients with different grades of variants. Multivariate logistic regression analysis showed that serous ovarian carcinoma was related to
BRCA
mutation (Serous carcinoma vs non-serous carcinoma: OR 2.145, 95% CI: 1.044–4.407) (
p
=0.038).
Conclusion
Patients with
BRCA1
variant develop ovarian cancer at a younger age than those with the
BRCA2
variant. The proportion of FIGO stage III–IV in patients with
BRCA
pathogenic + likely pathogenic variant was significantly higher than those in patients with other variants. Germline
BRCA1/2
variants were most frequently identified in serous ovarian carcinoma patients.