Frequency of germline <i>BRCA1/2</i> mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer

Sunar, Veli; Korkmaz, Vakkaş; Topçu, Vehap; Çavdarlı, Büşranur; Arık, Zafer; Özdal, Bülent; Üstün, Yaprak Engin

doi:10.1111/ajco.13520

Cited by 5 publications

(4 citation statements)

References 39 publications

(52 reference statements)

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“…Among these included articles, 50 studies 6,7,9–12,18–61 evaluated the relationship between patients with BRCAms and the clinical features of ovarian cancer, and 22 studies 6,7,9,11,12,21,28,32,38–40,44,45,48,49,52,53,58–60,62,63 evaluated the relationship between patients with BRCAms and surgical outcomes. Also, 48 studies ,6–12,18,21,26–30,32–41,44–49,52–54,57–71 evaluated the relationship between BRCAms and the prognosis of ovarian cancer.…”

Section: Resultsmentioning

confidence: 99%

Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta‐analysis

Wang

Ren

et al. 2022

J of Obstet and Gynaecol

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Aim This meta‐analysis was conducted to evaluate the impact of BRCA mutations on survival outcomes of ovarian cancer patients and assess whether the BRCA status was an independent predictor of complete cytoreduction. Methods We searched the PubMed, Cochrane, EMBASE, Scopus, Web of Science, and Google Scholar databases for studies that evaluated the associations among BRCA mutations, ovarian cancer survival and surgical cytoreduction before August 2021 based on specific inclusion and exclusion criteria. Results We identified 61 articles that compared the clinical features, survival outcomes, and optimal surgical cytoreduction rates between BRCA‐positive patients and BRCA‐negative patients. The results showed that BRCA mutation carriers were diagnosed with ovarian cancer at a younger age than the age at which nonmutation carriers were diagnosed. In addition, BRCA mutation carriers were more likely to be in the International Federation of Gynecology and Obstetrics (FIGO) stage III‐IV, and the pathological grade was commonly grade 3. The pathological type of BRCA mutation carriers was more likely to be high‐grade serous carcinoma. Patients with BRCA mutations had higher response rates to platinum‐based chemotherapy than the noncarriers. However, patients in both groups had equivalent rates of surgical cytoreduction, and BRCA‐positive patients had longer overall survival (OS) time (HR = 0.65; 95% confidence interval [CI]: 0.59, 0.73; p < 0.001) and longer progression‐free survival (PFS) (HR = 0.72; 95% CI: 0.63, 0.82; p < 0.001). Conclusion BRCA mutations appear to be associated with improved OS and PFS in patients with ovarian cancer. However, we did not find any difference in the surgical resection rate between participants in the two groups.

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Section: Resultsmentioning

confidence: 99%

Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta‐analysis

Wang

Ren

et al. 2022

J of Obstet and Gynaecol

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“…Among BRCA2 mutations, mainly with c.6373-6374insA mutations were predominant, inconsistent with 3109C > T and c.7480C > T, which may be caused by incorporation of southern-northern differences or genetic recombination during inheritance 19 . Studies have shown that German Jews have the highest rate of BRCA gene mutations in ovarian cancer, about 30-40% 20 . However, in a recent Japanese study on BRCA mutations in ovarian cancer, the rate of BRCA1/2 mutations in ovarian cancer was as high as 48.5% (227/468), which was higher than that of German Jews.…”

Section: Discussionmentioning

confidence: 99%

Analysis and comparison of BRCA1/2 gene mutations in 310 cases of ovarian cancer

Han

Yang

2023

Preprint

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Background The risk of ovarian cancer is increased in patients with BRCA1/2 gene mutation, and there are racial and regional differences in BRCA1/2 gene mutation. The aim of this study was to investigate the BRCA gene mutation and its clinical characteristics in ovarian cancer patients in Zhejiang Province, China, analyze its difference from other regions of ovarian cancer. Methods 310 patients with ovarian cancer were enrolled and their BRCA1/2 mutations were detected. Patients' age, clinical diagnosis, histopathological diagnosis, and preoperative serum CA125 and HE4 levels were collected. The mutation rates and common mutants of BRCA1/2 gene in ovarian cancer in several countries were collected. Results A total of 310 patients with non-selective ovarian cancer were selected for this study, of whom 87 (28.1%) had BRCA1/2 gene mutations, including 64 (20.1%) BRCA1 mutations and 23 (8%) BRCA2 mutations.There were four main types of BRCA mutations in 87 patients: frame shift mutations (57.5%), nonsense mutations (26.4%), missense mutations (13.8%), and splicing mutations (2.3%). There were 45 mutations in patients with BRCA1 mutations, of which c.5470-5477del and c.981-982del mutations were the most frequent. 22 mutations were found in patients with BRCA2 mutations, of which c.6373-6374insA mutations were the most frequent. preoperative serum levels of CA125 and HE4 in patients with BRCA1/2 mutations were higher than those in patients without BRCA2 mutations. The differences in CA125 and HE4 levels between patients with BRCA1/2 mutations and patients without mutations were statistically significant (P < 0.001). The differences in age and pathology type between patients with BRCA1/2 mutations and those without mutations were not statistically significant (P > 0.005). Conclusions Preoperative tumor markers CA125 and HE4 can be used as an aid to assess BRCA gene mutations in ovarian cancer patients. Significant disparities in BRCA1/2 gene mutation rates and variants across countries and regions.

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“…In our study, the median age at initial diagnosis was 41.5 (34-50) years, and breast cancer patients under 45 years were significantly much more in BRCA 1 pathogenic/likely pathogenic variant group than those with the BRCA 2 pathogenic/likely pathogenic variant. Family history is a risk factor for breast cancer and its incidence varies between BRCA related cancer patients [ 9 , 13 ]. O’Shaughnessy et al showed that family history was present in 45.5% of BRCA pathogenic/likely pathogenic variant breast cancer patients [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers

Osman

Ahmet

Hilmi

et al. 2022

Balkan Journal of Medical Genetics

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The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication of BRCA1/BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. A total of 200 consecutive cancer patients who harbored the BRCA1/BRCA2 pathogenic/likely pathogenic variant (130 (65%) patients harbored BRCA 1 pathogenic/likely pathogenic variant, and 70 harbored BRCA 2 pathogenic/likely pathogenic variant) were included. Of these, 64.0% had breast cancer (43.8% of them had the triple-negative disease, and about 2.3% had only the HER-2 mutant), 31.5% had genital cancers (92.1% of them had ovarian cancer, 3.2% had endometrium, and 1.6% had peritoneum cancer as the primary site and mostly serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma), 3.5% had prostate (median time from metastasis to castration-resistant status was 28 months) and 1.0% had pancreas cancer. Newly diagnosed cancer (breast and ovary) patients who had BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant were younger than their previous cancer diagnosed (breast, ovary, and pancreas) parents who harbored BRCA pathogenic/likely pathogenic variant. We suggest that the genetic screening of BRCA 1/ BRCA 2 pathogenic/likely pathogenic variant is needed as a routine screening for those with a personal or family history of breast, ovarian, tubal, or peritoneal cancer. In addition, once BRCA 1 or BRCA 2 germline pathogenic variant has been identified in a family, testing of at-risk next-generation relatives earlier can identify those family members who also have the familial pathogenic variant, and thus need increased surveillance.

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Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer

Cited by 5 publications

References 39 publications

Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta‐analysis

Association of BRCA1/2 mutations with prognosis and surgical cytoreduction outcomes in ovarian cancer patients: An updated meta‐analysis

Analysis and comparison of BRCA1/2 gene mutations in 310 cases of ovarian cancer

BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers

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