Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study

Lertkhachonsuk, Arb-aroon; Suprasert, Prapaporn; Manchana, Tarinee; Kittisiam, Thannaporn; Kantathavorn, Nuttavut; Chansoon, Tharintorn; Khunamornpong, Surapan; Pohthipornthawat, Natkrita; Tangjitgamol, Siriwan; Luasiripanthu, Taksa; Teerapakpinyo, Chinachote; Shuangshot, Shanop; Iemwimangsa, Nareenart; Chantratita, Wasun

doi:10.31557/apjcp.2020.21.8.2381

Cited by 5 publications

(9 citation statements)

References 22 publications

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“…Concerning the distribution of variants among the different histotypes, 10 high-grade serous subtypes (26.3%) out of 38 individuals revealed a BRCA1/2 pathogenic mutation, and three carried a pathogenic mutation in one of the HR genes. These results further confirm previous literature reports [ 6 , 42 , 43 , 44 ]. Remarkably, four (40%) endometrioid cancers out of ten in our cohort were found to harbor three deleterious mutations in BRCA1 and 1 in BRCA2 .…”

Section: Discussionsupporting

confidence: 93%

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

Turchiano

Loconte

Nola

et al. 2022

Cancers

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Background: Pathogenic variants in homologous recombination repair (HRR) genes other than BRCA1/2 have been associated with a high risk of ovarian cancer (OC). In current clinical practice, genetic testing is generally limited to BRCA1/2. Herein, we investigated the mutational status of both BRCA1/2 and 5 HRR genes in 69 unselected OC, evaluating the advantage of multigene panel testing in everyday clinical practice. Methods: We analyzed 69 epithelial OC samples using an NGS custom multigene panel of the 5 HRR pathways genes, beyond the genetic screening routine of BRCA1/2 testing. Results: Overall, 19 pathogenic variants (27.5%) were detected. The majority (21.7%) of patients displayed a deleterious mutation in BRCA1/2, whereas 5.8% harbored a pathogenic variant in one of the HRR genes. Additionally, there were 14 (20.3%) uncertain significant variants (VUS). The assessment of germline mutational status showed that a small number of variants (five) were not detected in the corresponding blood sample. Notably, we detected one BRIP1 and four BRCA1/2 deleterious variants in the low-grade serous and endometrioid histology OC, respectively. Conclusion: We demonstrate that using a multigene panel beyond BRCA1/2 improves the diagnostic yield in OC testing, and it could produce clinically relevant results.

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Section: Discussionsupporting

confidence: 93%

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

Turchiano

Loconte

Nola

et al. 2022

Cancers

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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][39][40]44,45,48,49,52,53,[58][59][60]62,63 evaluated the relationship between patients with BRCAms and surgical outcomes. Also, 48 studies , [6][7][8][9][10][11][12]18,21,[26][27][28][29][30][32][33][34][35][36][37][38][39][40][41][44][45][46][47]…”

Section: Discussionmentioning

confidence: 99%

“…Thirty-three studies [6][7][8][9][10][11][12]18,[27][28][29][32][33][34][35][36][37][38][39][40][41][46][47][48]52,54,57,60,63,65,66,68,69 provided OS data of patients with BRCA1/BRCA2 mutations. Heterogeneity was observed among the 33 studies (I 2 = 50.3%); therefore, a random effects model was used.…”

Section: Meta-analysis Of Brca1/brca2 Mutationsmentioning

confidence: 99%

“…The analysis revealed a significant OS advantage in ovarian cancer patients with BRCA1/2 mutations (HR = 0.65; 95% CI: 0.59, 0.73; p < 0.001) (Figure 3a). Twenty-three studies [6][7][8]11,12,18,21,32,[35][36][37][38]40,44,46,49,[52][53][54]60,63,65,68 provided data with respect to patients' PFS. A random effects model was used because of significant heterogeneity (I 2 = 54.8%).…”

Section: Meta-analysis Of Brca1/brca2 Mutationsmentioning

confidence: 99%

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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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“…Despite this uncertainty in the estimate proportion, germline BRCA1/2 PVs were detected in all histological subtypes of OC. Also, in seven studies that incorporated an extra round of pathological revision in their study design, germline BRCA1/2 PVs were identified in all histological subtypes [1,28,31,34,42,47,48].…”

Section: Proportion Of Germline Brca1/2 Pvs Per Histological Subtypementioning

confidence: 99%

Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis

Witjes

Bommel²,

Ligtenberg

et al. 2022

Gynecologic Oncology

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Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study

Abstract: Epithelial ovarian cancer (EOC) is the 6th most common cancer among Thai females with the age

Cited by 5 publications

References 22 publications

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

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

Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis

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