Volume 21 Issue 5
May  2023
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Article Navigation >  Chinese Journal of General Practice  > 2023  >  21(5): 749-752
LIU Gege, WANG Lihua, LI Yanhua. Correlation analysis of BRCA1/2 gene status and clinicopathological features in patients with epithelial ovarian cancer[J]. Chinese Journal of General Practice, 2023, 21(5): 749-752. doi: 10.16766/j.cnki.issn.1674-4152.002974
Citation: LIU Gege, WANG Lihua, LI Yanhua. Correlation analysis of BRCA1/2 gene status and clinicopathological features in patients with epithelial ovarian cancer[J]. Chinese Journal of General Practice, 2023, 21(5): 749-752. doi: 10.16766/j.cnki.issn.1674-4152.002974
shu

Correlation analysis of BRCA1/2 gene status and clinicopathological features in patients with epithelial ovarian cancer

doi: 10.16766/j.cnki.issn.1674-4152.002974

  • Department of Gynaecologic Oncology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, Anhui 233004, China

Funds:

 KJ2021A0720

  • Received Date: 2022-07-22
    Abstract
  •   Objective  This study was performed to investigate the relationship between BRCA1/2 germ line mutation status and clinicopathological characteristics in epithelial ovarian cancer patients, so as to develop precise individualized treatment plan for patients.  Methods  Patients with epithelial ovarian cancer who visited the Department of Gynecologic Oncology in the First Affiliated Hospital of Bengbu Medical College from December 1, 2019 to October 31, 2021 and had germline mutation test results of breast cancer susceptibility gene (BRCA1/2) were selected for the study. According to the results of gene detection, they were divided into gBRCA1/2m (+) group (mutation group) and gBRCA1/2m (-) group (wild-type group). The clinicopathological characteristics of the two groups of patients were statistically analyzed.  Results  Compared between the two groups of patients, the initial CA125 level (P=0.016) and FIGO stage (P=0.010) of patients in the mutation group were significantly higher than those in the wild-type group, the proportion of family history was higher (P=0.026) in the mutation group, and the patients with positive ascites were more common (P=0.020) in the mutation group. The platinum interval was also longer (P=0.044) and the differences were statistically significant (all P < 0.05). There were no significant differences in the initial treatment method, satisfaction with tumour cytoreduction, recurrence, sensitivity to first-line platinum-based chemotherapy and age in advanced patients (all P>0.05).  Conclusion  Among patients with epithelial ovarian cancer, patients with BRCA1/2 gene mutations have a longer platinum-free interval, and those with a family history of ovarian cancer, higher FIGO stage, high tumor marker levels and positive ascites are more likely to have a positive germline BRCA1/2 mutation. Early genetic testing and timely aggressive intervention such as PARP inhibitors in these patients may result in a longer survival time for the patient.

     

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    • References(24)
  • [1]
    李栗扬, 徐鹏, 王蓓蒂, 等. MicroRNA-429在妇科恶性肿瘤中的研究进展[J]. 中华全科医学, 2021, 19(6): 1013-1016, 1034. doi: 10.16766/j.cnki.issn.1674-4152.001973

    LI L Y, XU P, WANG B D, et al. Research Progress of MicroRNA-429 in Gynecological Malignant Tumors[J]. Chin J Gene Pract, 2021, 19(6): 1013-1016, 1034. doi: 10.16766/j.cnki.issn.1674-4152.001973
    [2]
    VAROL U, KUCUKZEYBEK Y, ALACACIOGLU A, et al. BRCA genes: BRCA 1 and BRCA 2[J]. J BUON, 2018, 23(4): 862-866.
    [3]
    《基于下一代测序技术的BRCA1/2基因检测指南》编写组. 基于下一代测序技术的BRCA1/2基因检测指南(2019版)[J]. 中华病理学杂志, 2019, 48(9): 670-677.

    "BRCA1/2 Gene Testing Guidelines Based on Next generation Sequencing Technology" compilation group. Guideline on next-generation sequencing-based BRCA1/2 testing (2019)[J]. Chin J Pathol, 2019, 48(9): 670-677.
    [4]
    SHAO F, DUAN Y, ZHAO Y, et al. PARP inhibitors in breast and ovarian cancer with BRCA mutations: a meta-analysis of survival[J]. Aging (Albany NY), 2021, 13(6): 8975-8988.
    [5]
    BU H, CHEN J, LI Q, et al. BRCA mutation frequency and clinical features of ovarian cancer patients: a report from a Chinese study group[J]. J Obstet Gynaecol Res, 2019, 45(11): 2267-2274. doi: 10.1111/jog.14090
    [6]
    LI A, XIE R, ZHI Q, et al. BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls[J]. Gynecol Oncol, 2018, 151(1): 145-152. doi: 10.1016/j.ygyno.2018.07.024
    [7]
    SLADE D. PARP and PARG inhibitors in cancer treatment[J]. Genes Dev, 2020, 34(5-6): 360-394. doi: 10.1101/gad.334516.119
    [8]
    FRIEDLANDER M, MOORE K N, COLOMBO N, et al. Patient-centred outcomes and effect of disease progression on health status in patients with newly diagnosed advanced ovarian cancer and a BRCA mutation receiving maintenance olaparib or placebo (SOLO1): a randomised, phase 3 trial[J]. Lancet Oncol, 2021, 22(5): 632-642. doi: 10.1016/S1470-2045(21)00098-X
    [9]
    DISILVESTRO P, COLOMBO N, SCAMBIA G, et al. Efficacy of maintenance olaparib for patients with newly diagnosed advanced ovarian cancer with a BRCA mutation: subgroup analysis findings from the SOLO1 trial[J]. J Clin Oncol, 2020, 38(30): 3528-3537. doi: 10.1200/JCO.20.00799
    [10]
    KONSTANTINOPOULOS P A, NORQUIST B, LACCHETTI C, et al. Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline[J]. J Clin Oncol, 2020, 38(11): 1222-1245. doi: 10.1200/JCO.19.02960
    [11]
    ZHANG J, YAO Y, HE H, SHEN J. Clinical interpretation of sequence variants[J]. Curr Protoc Hum Genet, 2020, 106(1): e98. DOI: 10.1002/cphg.98.
    [12]
    BRAY F, FERLAY J, SOERJOMATARAM I, et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA Cancer J Clin, 2018, 68: 394-424. doi: 10.3322/caac.21492
    [13]
    NELSON H D, PAPPAS M, CANTOR A, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: updated evidence report and systematic review for the US Preventive Services Task Force[J]. Jama, 2019, 322(7): 666-685. doi: 10.1001/jama.2019.8430
    [14]
    SPRIGGS D R, LONGO D L. Progress in BRCA-Mutated ovarian cancer[J]. N Engl J Med, 2018, 379(26): 2567-2568. doi: 10.1056/NEJMe1812644
    [15]
    MILLS J, FAKOLADE A. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer[J]. Am Fam Physician, 2020, 101(4): 239-240.
    [16]
    JIANG X, LI X, LI W, et al. PARP inhibitors in ovarian cancer: sensitivity prediction and resistance mechanisms[J]. J Cell Mol Med, 2019, 23(4): 2303-2313. doi: 10.1111/jcmm.14133
    [17]
    MADARIAGA A, LHEUREUX S, OZA A M. Tailoring ovarian cancer treatment: implications of BRCA1/2 mutations[J]. Cancers, 2019, 11(3) 416. doi: 10.3390/cancers11030416
    [18]
    JONSSON P, BANDLAMUDI C, CHENG M L, et al. Tumour lineage shapes BRCA-mediated phenotypes[J]. Nature, 2019, 571(7766): 576-579. doi: 10.1038/s41586-019-1382-1
    [19]
    PAIK E S, HEO E J, CHOI C H, et al. Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer[J]. Cancer Sci, 2021, 112(12): 5055-5067. doi: 10.1111/cas.15166
    [20]
    KIM S I, LEE M, KIM H S, et al. Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer[J]. J Ovarian Res, 2019, 12(1): 1-10.
    [21]
    KOTSOPOULOS J, ZAMANI N, ROSEN B, et al. Impact of germline mutations in cancer-predisposing genes on long-term survival in patients with epithelial ovarian cancer[J]. Br J Cancer, 2022, 127(5): 879-885. doi: 10.1038/s41416-022-01840-4
    [22]
    BANERJEE S, MOORE KN, COLOMBO N, et al. Maintenance olaparib for patients with newly diagnosed advanced ovarian cancer and a BRCA mutation (SOLO1/GOG 3004): 5-year follow-up of a randomised, double-blind, placebo-controlled, phase 3 trial[J]. Lancet Oncol, 2021, 22(12): 1721-1731.
    [23]
    FERRERO A, BORGHESE M, RESTAINO S, et al. Predicting response to anthracyclines in ovarian cancer[J]. INT J ENV RES PUB HE. 2022 19 (7): 4260.
    [24]
    冯征, 温灏. 预防性输卵管卵巢切除术在遗传性卵巢癌中的应用[J]. 中国癌症杂志, 2022, 32(11): 1044-1048. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGAZ202211002.htm

    FENG Z, WEN H. Risk-reducing salpingo-oophorectomy for hereditary ovarian cancer[J]. Chin Oncol, 2022, 32(11): 1044-1048. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGAZ202211002.htm
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