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BRCA mutation in high grade epithelial ovarian cancers.

ABSTRACT: Objective:To identify the frequency of BRCA mutation in patients with high grade epithelial ovarian cancer (EOC). Methods:Patients with EOC included fallopian tube cancer or peritoneal cancer with high grade serous or high grade endometrioid were recruited. BRCA1 and BRCA2 mutations were tested and analyzed by next generation sequencing system. Results:A total of 87 patients were recruited; majority of them (88.5%) were EOC, 5.7% fallopian tube cancer, 4.6% peritoneal cancer, and 1.1% synchronous primary ovarian and endometrial cancer. Seventy-four patients (85.1%) had high grade serous carcinoma and 13 patients (14.9%) had high grade endometrioid carcinoma. Germline BRCA mutation was detected in 19 patients (21.8%); 14 patients (16.1%) had BRCA1 mutation and 5 patients (5.7%) had BRCA2 mutation. All BRCA mutations were found in patients with high grade serous carcinoma (25.7%) but none in high grade endometrioid carcinoma. Six from 19 patients (31.6%) who had BRCA mutation had no family history of breast and ovarian cancers. Higher frequency of BRCA mutation was detected in patients with fallopian tube cancer; 3 in 5 patients (60%) followed by peritoneal cancer; 2 in 4 patients (50%), and EOC; 14 in 77 patients (18.2%). Conclusion:The frequency of BRCA mutation in high grade serous carcinoma was 25.7%, none was found in high grade endometrioid carcinoma. High cost, unavailability of genetic testing, limited number of geneticists, may be barriers in limited resource countries. Selected patients especially high grade serous carcinoma should be considered initially.

SUBMITTER: Manchana T

PROVIDER: S-EPMC6710551 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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<i>BRCA</i> mutation in high grade epithelial ovarian cancers.

Manchana Tarinee T Phoolcharoen Natacha N Tantbirojn Patou P

Gynecologic oncology reports 20190813

<h4>Objective</h4>To identify the frequency of <i>BRCA</i> mutation in patients with high grade epithelial ovarian cancer (EOC).<h4>Methods</h4>Patients with EOC included fallopian tube cancer or peritoneal cancer with high grade serous or high grade endometrioid were recruited. <i>BRCA1</i> and <i>BRCA2</i> mutations were tested and analyzed by next generation sequencing system.<h4>Results</h4>A total of 87 patients were recruited; majority of them (88.5%) were EOC, 5.7% fallopian tube cancer, ...[more]

PMID: 31467961

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Project description:Purpose To investigate the associations between BRCA mutation status and computed tomography (CT) phenotypes of high-grade serous ovarian cancer (HGSOC) and to evaluate CT indicators of cytoreductive outcome and survival in patients with BRCA-mutant HGSOC and those with BRCA wild-type HGSOC. Materials and Methods This HIPAA-compliant, institutional review board-approved retrospective study included 108 patients (33 with BRCA mutant and 75 with BRCA wild-type HGSOC) who underwent CT before primary debulking. Two radiologists independently reviewed the CT findings for various qualitative CT features. Associations between CT features, BRCA mutation status, cytoreductive outcome, and progression-free survival (PFS) were evaluated by using logistic regression and Cox proportional hazards regression, respectively. Results Peritoneal disease (PD) pattern, presence of PD in gastrohepatic ligament, mesenteric involvement, and supradiaphragmatic lymphadenopathy at CT were associated with BRCA mutation status (multiple regression: P < .001 for each CT feature). While clinical and CT features were not associated with cytoreductive outcome for patients with BRCA-mutant HGSOC, presence of PD in lesser sac (odds ratio [OR] = 2.40) and left upper quadrant (OR = 1.19), mesenteric involvement (OR = 7.10), and lymphadenopathy in supradiaphragmatic (OR = 2.83) and suprarenal para-aortic (OR = 4.79) regions were associated with higher odds of incomplete cytoreduction in BRCA wild-type HGSOC (multiple regression: P < .001 each CT feature). Mesenteric involvement at CT was associated with significantly shorter PFS for both patients with BRCA-mutant HGSOC (multiple regression: hazard ratio [HR] = 26.7 P < .001) and those with BRCA wild-type HGSOC (univariate analysis: reader 1, HR = 2.42, P < .001; reader 2, HR = 2.61; P < .001). Conclusion Qualitative CT features differed between patients with BRCA-mutant HGSOC and patients with BRCA wild-type HGSOC. CT indicators of cytoreductive outcome varied according to BRCA mutation status. Mesenteric involvement at CT was an indicator of significantly shorter PFS for both patients with BRCA-mutant HGSOC and those with BRCA wild-type HGSOC. © RSNA, 2017 Online supplemental material is available for this article.

Project description:Epithelial ovarian cancer is the most lethal gynecologic malignancy. In most women, it is diagnosed at an advanced stage, which largely explains the poor prognosis of this malignancy. Germline mutations of the genes BRCA1 and BRCA2, which encode proteins essential for the repair of double-strand DNA breaks through homologous recombination, lead to increased cancer predisposition. BRCA mutations are present in approximately 14% of epithelial ovarian cancers. Somatic BRCA mutations have also been described. Current first-line treatment of high-grade epithelial ovarian cancer includes debulking surgery followed by combination chemotherapy, usually carboplatin and paclitaxel. Ovarian cancer is highly sensitive to chemotherapy, in particular to platinum drugs. Most patient will achieve remission with initial chemotherapy, but most will eventually experience disease recurrence. Targeted therapies, including the anti-angiogenic agent bevacizumab and oral poly (ADP-ribose) polymerase (PARP) inhibitors, have been recently approved for the treatment of ovarian cancer, based on the results from randomized clinical trials showing significant benefits in terms of progression-free survival, with acceptable tolerability and no detrimental effects on quality of life. Olaparib, the first PARP inhibitor to be granted approval, is currently indicated as maintenance monotherapy in ovarian cancer patients with relapsed disease and mutated BRCA who have achieved a complete or partial response to platinum-based chemotherapy. The analysis of BRCA mutational status has, therefore, also become crucial for therapeutic decisions. Such advances are making personalized treatment of ovarian cancer feasible. Here we briefly review treatments for platinum-sensitive, high-grade serous epithelial ovarian cancer that are currently available in Italy, with a focus on targeted therapies and the relevance of BRCA mutational analysis. Based on the evidence and on current guidelines, we propose strategies for the tailored treatment of patients with relapsed ovarian cancer that take into account BRCA mutational status and the treatment received in the first-line setting.

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BRCA mutation in high grade epithelial ovarian cancers.

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<i>BRCA</i> mutation in high grade epithelial ovarian cancers.

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