Clinicopathological features of patients with ovarian and breast cancer with BRCA mutation.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13524-e13524
Author(s):  
Metin Ozkan ◽  
Sedat Tarık Fırat ◽  
Ramazan Coşar ◽  
Oktay Bozkurt ◽  
Mevlude Inanc ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Germ Cell ◽  
Triple Negative ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Germ Cell Tumors ◽  
Serous Carcinoma ◽  
Breast And Ovarian Cancer ◽  
Stage 4

e13524 Background: Breast cancer is the most common cancer and the leading cause of cancer death in women. Ovarian cancer contributes significantly to mortality and morbidity rates. BRCA1 and BRCA2 are the best known genes associated with breast and ovarian cancer, which are important in DNA repair and transcriptional regulation. Methods: In this study, we retrospectively analyzed the clinicopathological features of breast and ovarian cancer patients who were found to have BRCA 1/2 mutations in Erciyes University Medical Oncology between 2009-2019. Results: BRCA mutation was detected in 14 patients with breast cancer and 10 patients with ovarian cancer. The median age of patients with breast cancer was 41 (25-67). Of 14 BRCA mutated patients, 9 (64 %) patients had BRCA2 mutations while 5 (36 %) patients had BRCA1 mutations. All patients had invasive ductal carcinoma. Of 14 patients, 7 patients were grade 3, 6 patients were grade 2, 1 patient was grade 1. At the time of diagnosis, 5 of 14 patients were stage 3 and 5 patients were stage 4. 4 (80%) of 5 patients with stage 4 had BRCA 2 mutation. 5 of 10 patients who received adjuvant therapy after surgery had 4 or more lymph node metastases. Hormone receptor positive / HER2 negative disease was the most common molecular subgroup (8/14, 57%). Five patients were triple negative histology. 4 (80%) of triple negative patients had BRCA1 mutation. Ovarian cancer developed in 2 of 14 patients who had breast cancer with BRCA mutation. Median age of patients with ovarian cancer with BRCA mutation was 52.5 (19-67). 2 of 10 patients with ovarian cancer had germ cell tumors and 8 had epithelial serous carcinoma. Of 10 BRCA mutated patients, 7 (70 %) patients had BRCA2 mutations while 3 (30 %) patients had BRCA1 mutations. Both patients with germ cell tumors were stage 1 at the time of diagnosis, 7 of the patients with epithelial serous carcinoma were stage 3, and 1 was stage 2. While patients with germ cell tumors were followed without recurrence, 6 patients with epithelial serous carcinoma developed recurrence, and all of these patients were platinum sensitive. Breast cancer developed in 1 patient with BRCA1 mutation at follow-up. All patients were alive according to the last control date. Median DFS was 29 months. Conclusions: BRCA-related breast cancer is characterized by a more aggressive phenotype than sporadic breast cancer, BRCA1-associated breast cancer is more frequently high-grade and triple negative histology. BRCA-related ovarian cancer is more sensitive to treatment, especially platinum-based chemotherapy, and is associated with improved prognosis.

scholarly journals Case series: Breast and ovarian cancer syndrome

2016 ◽  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca Mutation ◽  
Family Members ◽  
Case Series ◽  
Second Primary ◽  
Time Interval ◽  
Breast And Ovarian Cancer ◽  
Ovarian Carcinomas ◽  
Increased Risk

Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1,2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.

Decision Analysis of Prophylactic Surgery or Screening for BRCA1 Mutation Carriers: A More Prominent Role For Oophorectomy

2002 ◽  
Vol 20 (8) ◽  
pp. 2092-2100 ◽  
Author(s):  
Mariëlle S. van Roosmalen ◽  
Lia C.G. Verhoef ◽  
Peep F.M. Stalmeier ◽  
Nicoline Hoogerbrugge ◽  
Willem A.J. van Daal
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Risk Group ◽  
Prophylactic Mastectomy ◽  
Brca1 Mutation ◽  
Prophylactic Surgery ◽  
Breast And Ovarian Cancer ◽  
Prophylactic Oophorectomy ◽  
Mutation Carriers ◽  
Medium Risk

PURPOSE: BRCA1 mutation carriers have a high risk of developing breast and ovarian cancer. Carriers may opt for prophylactic surgery and screening. Recent data suggesting that prophylactic oophorectomy reduces breast cancer risk have been incorporated in a decision analysis. METHODS: A Markov model was developed to compare LE and QALE following four strategies: (1) prophylactic mastectomy and prophylactic oophorectomy (PMPO), (2) screening for breast cancer and prophylactic oophorectomy (BSPO), (3) prophylactic mastectomy and screening for ovarian cancer (PMOS), and (4) screening for breast and ovarian cancer (BSOS). The analysis was performed for a high (85% breast cancer, 63% ovarian cancer) and medium (56% breast cancer, 16% ovarian cancer) risk level. Utilities for the health states after prophylactic surgery were obtained from mutation carriers. Other model parameter values were obtained from the literature. Sensitivity analyses were performed. RESULTS: When compared with BSOS, the average gain in LE for 30-year-old carriers in the high (medium) risk group was 11.7 (6.6) years for PMPO, 9.5 (5.3) years for BSPO, and 4.9 (4.4) years for PMOS. For 30-year-old carriers, BSPO had a QALE advantage when PO was performed before age 40. In the medium-risk group, there was a stronger advantage for BSPO when QALE was considered. CONCLUSION: PMPO is the most effective strategy to prolong life. However, if patient preferences were taken into account, BSPO tends to be a better strategy in most women at medium risk or in young women at high risk when PO was performed before age 40.

BRCA1/2 mutation prevalence in triple-negative breast cancer patients without family history of breast and ovarian cancer.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1090-1090 ◽  
Author(s):  
Kerstin Rhiem ◽  
Christoph Engel ◽  
Jutta Engel ◽  
Dieter Niederacher ◽  
Christian Sutter ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Cancer Patients ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Breast Cancer Patients ◽  
Breast And Ovarian Cancer ◽  
History Of

scholarly journals BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 150
Author(s):  
Paula Rofes ◽  
Jesús Del Valle ◽  
Sara Torres-Esquius ◽  
Lídia Feliubadaló ◽  
Agostina Stradella ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Triple Negative ◽  
Panel Analysis ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Risk Gene ◽  
Pathogenic Variants ◽  
High Penetrance

Only a small fraction of hereditary breast and/or ovarian cancer (HBOC) cases are caused by germline variants in the high-penetrance breast cancer 1 and 2 genes (BRCA1 and BRCA2). BRCA1-associated ring domain 1 (BARD1), nuclear partner of BRCA1, has been suggested as a potential HBOC risk gene, although its prevalence and penetrance are variable according to populations and type of tumor. We aimed to investigate the prevalence of BARD1 truncating variants in a cohort of patients with clinical suspicion of HBOC. A comprehensive BARD1 screening by multigene panel analysis was performed in 4015 unrelated patients according to our regional guidelines for genetic testing in hereditary cancer. In addition, 51,202 Genome Aggregation Database (gnomAD) non-Finnish, non-cancer European individuals were used as a control population. In our patient cohort, we identified 19 patients with heterozygous BARD1 truncating variants (0.47%), whereas the frequency observed in the gnomAD controls was 0.12%. We found a statistically significant association of truncating BARD1 variants with overall risk (odds ratio (OR) = 3.78; CI = 2.10–6.48; p = 1.16 × 10−5). This association remained significant in the hereditary breast cancer (HBC) group (OR = 4.18; CI = 2.10–7.70; p = 5.45 × 10−5). Furthermore, deleterious BARD1 variants were enriched among triple-negative BC patients (OR = 5.40; CI = 1.77–18.15; p = 0.001) compared to other BC subtypes. Our results support the role of BARD1 as a moderate penetrance BC predisposing gene and highlight a stronger association with triple-negative tumors.

Clinical and morphological characteristics of BRCA-associated and sporadic breast cancer in fertile female in the Altai territory.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12560-e12560
Author(s):  
Valentina Dmitrievna Petrova ◽  
Svetlana Aleksandrovna Terekhova ◽  
Tatiyana Vladimirovna Sinkina ◽  
Inna Anatolievna Selezneva ◽  
Ylija Nikolaevna Dimitriadi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Morphological Characteristics ◽  
Young Female ◽  
Brca Mutations ◽  
Cancer History ◽  
Fertile Female ◽  
Family Cancer History

e12560 Background: Breast cancer (BC) for more than 10 years is the most frequent cancer in females in the Altai territory of Russian Federation. The share of patients under 40 years old varies from 2.6% to 16.0%. Genetically dependent nature of BC in young female is scientifically confirmed fact. The aim of this study was to analyze characteristics of BRCA-associated and sporadic BC in fertile females. Methods: 161 female patients of fertile age (under 40 years old) with BC were examined. Clinical, morphological and genetic (BRCA1) factors were analyzed. BRCA1 mutation was revealed in 22 patients (139 patients did not have it). Results: 82.0% of patients with BRCA1 mutations had positive family cancer history. In this group BC was diagnosed more frequently at the age of 31-35 y.o. (40.9%), while in the group of sporadic cancer – at the age of 36-40 y.o. (58.2%). Pathomorphological forms of BC were analyzed and in both groups infiltrative forms of BC were the most frequent (95.5% and 91.4% correspondingly). I stage cases of BC were diagnosed more frequently the group of sporadic cancers than in the group of BRCA-associated cancers (23.0% and 4.5% correspondingly, P<0.05). Hormone status of the tumours was analyzed. BRCA-associated cancers were significantly more often ER and PR negative (87.5%, P<0.05). Hyperexpression of Her2neu was not revealed in this group. In the group of patients without BRCA mutation ER and PR negative tumours were also prevalent (60.5%, P<0.05). Hyperexpression of Her2neu (+++) was revealed in 6.9%. Triple negative cancers were prevalent in the both groups, while in the group of BRCA-associated cancers there were 91.7% of such tumours. The percentage of polyneoplasia in the group of patients with BRCA mutations was higher than in the group without them (12.0 and 1.0 correspondingly, P<0.05). Conclusions: In females of fertile age carriage of BRCA mutations in 82.0% connected with family cancer history. In the group of sporadic cancers I stage cases of BC are more frequent. In both groups hormone receptor negative and triple negative cancer are prevalent, but in the group of BRCA-associated cancers the percentage of such tomours and polyneoplasia are significantly higher.

scholarly journals Penetrance of Breast and Ovarian Cancer in Women Who Carry a BRCA1/2 Mutation and Do Not Use Risk-Reducing Salpingo-Oophorectomy: An Updated Meta-Analysis

2020 ◽  
Vol 4 (4) ◽  
Author(s):  
Jinbo Chen ◽  
Eunchan Bae ◽  
Lingjiao Zhang ◽  
Kevin Hughes ◽  
Giovanni Parmigiani ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Meta Analysis ◽  
Brca1 Mutation ◽  
Brca2 Mutation ◽  
Breast And Ovarian Cancer ◽  
Mutation Carriers ◽  
Risk Reducing ◽  
Good Calibration

Abstract Background Use of risk-reducing Salpingo-oophorectomy (RRSO) substantially reduces the risk of ovarian and breast cancer for women who carry a BRCA1/2 mutation. It is important to adjust for RRSO use in the estimation of BRCA1/2 penetrance of breast and ovarian cancer. Methods We searched PubMed for penetrance estimates of breast and ovarian cancer from studies that genotyped individual patients and explicitly adjusted for RRSO use by censoring follow-up at the age of RRSO. We meta-analyzed penetrance estimates from 7 identified studies. We implemented the resulting penetrance estimates in a Mendelian risk prediction model as iplemented in the software package BRCAPRO, which we applied to estimate carrier probabilities in 2 BRCA cohorts. Results Penetrance estimates by age 70 years for breast cancer were 64.6% (95% confidence interval [CI] = 59.5% to 69.4%) for BRCA1 mutation carriers and 61.0% (95% CI = 48.1% to 72.5%) for BRCA2 mutation carriers, and for ovarian cancer they were 48.3% (95% CI = 38.8% to 57.9%) and 20.0% (95% CI = 13.3% to 29.0%), respectively. When integrated into BRCAPRO, our estimates led to good calibration and different estimates of carrier probabilities for some individuals when evaluating the models in 2 cohorts. Conclusions The report updates penetrance estimates for BRCA1/2-associated cancer. We report higher estimates than previously reported, which did not adjust for RRSO. Differential use of RRSO may partially explain heterogeneity in the currently available penetrance estimates. For some individuals, using our estimates in BRCAPRO may result in changes in estimated carrier probabilities, which warrants validation in future studies.

Expanding the Criteria forBRCAMutation Testing in Breast Cancer Survivors

2010 ◽  
Vol 28 (27) ◽  
pp. 4214-4220 ◽  
Author(s):  
Janice S. Kwon ◽  
Angelica M. Gutierrez-Barrera ◽  
Diana Young ◽  
Charlotte C. Sun ◽  
Molly S. Daniels ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Life Expectancy ◽  
Brca Mutation ◽  
Cost Effective ◽  
Mutation Testing ◽  
Breast Cancers ◽  
Brca Testing ◽  
Breast And Ovarian Cancer ◽  
Quality Adjusted Life

PurposeEvery year approximately 25% of women diagnosed with breast cancer are younger than 50 years of age, and almost 10% of them have a BRCA mutation. Not all potential carriers are identified by existing criteria for BRCA testing. We estimated the costs and benefits of different BRCA testing criteria for women with breast cancer younger than 50 years.MethodsWe developed a Markov Monte Carlo simulation to compare six criteria for BRCA mutation testing: (1) no testing (reference); (2) medullary breast cancer in patients younger than 50 years; (3) any breast cancer in patients younger than 40 years; (4) triple negative (TN) breast cancer in patients younger than 40 years; (5) TN breast cancer in patients younger than 50 years; (6) any breast cancer in patients younger than 50 years. Net health benefits were life expectancy and quality-adjusted life expectancy, and primary outcome was the incremental cost-effectiveness ratio (ICER). The model estimated the number of new breast and ovarian cancer cases.ResultsBRCA mutation testing for all women with breast cancer who were younger than 50 years could prevent the highest number of breast and ovarian cancer cases, but with unfavorable ICERs. Testing women with TN breast cancers who were younger than 50 years was cost-effective with an ICER of $8,027 per year of life gained ($9,084 per quality-adjusted life-year), and could reduce subsequent breast and ovarian cancer risks by 23% and 41%, respectively, compared with the reference strategy.ConclusionTesting women with TN breast cancers who were younger than 50 years for BRCA mutations is a cost-effective strategy and should be adopted into current guidelines for genetic testing.

scholarly journals Videolaparoscopic propylactic salpingo-oophorectomy: initial experience

Mastology ◽  
2020 ◽  
Vol 30 (Suppl 1) ◽  
Author(s):  
Sabas Carlos Vieira ◽  
Danilo Rafael da Silva Fontinele
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Committee Report ◽  
Initial Experience ◽  
The Mean ◽  
Reduction Of Mortality ◽  
Risk Reducing

Introduction: The BRCA mutation substantially increases the risk of ovarian cancer, from 20% to 60% when the mutation is in BRCA1, and 10% to 20% in BRCA1. Bilateral salpingo-oophorectomy may be the most important intervention in these patients, with clear impact on the reduction of mortality caused by ovarian cancer, and about 85% to 50% of reduction in the incidence of breast cancer. Salpingo-oophorectomy should be performed from the ages of 35 to 40 in patients with BRCA1 mutation, and after the age of 40 for BRCA2 carriers. Objectives: To present our initial experience of prophylactic bilateral salpingo-oophorectomy in patients with BRCA mutation. Method: This is a retrospective study. We included all patients who had tested positive for the BRCA mutation assisted from 1999 to 2019. Seven patients were identified with BRCA mutation and underwent videolaparoscopic salpingo-oophorectomy. The procedure was classic. The pieces were removed in endobags and sent to histological analysis with serial sections. The study was approved by the Research Ethics Committee, report n. 2.817.502. Results: No tumor was found in the surgical piece. The mean age of patients when they underwent surgery was 45.8 years. The patients, together, added 21 cases of breast cancer and 4 cases of ovarian cancer among 1st, 2nd and 3rd degree relatives. Five (71.4%) patients presented with BRCA1 mutation. Three patients had been diagnosed with breast cancer, none with previous ovarian cancer. As to the surgery: 3 (42.8%) also underwent bilateral or contralateral risk-reducing mastectomy with reconstruction, and 4 (57.2%) only underwent bilateral salpingo-oophorectomy. All patients are alive and without an active oncologic disease, with mean follow-up of 32 months. Conclusions: In this sample, we did not find any occult tumor in patients submitted to bilateral salpingo-oophorectomy due to BRCA mutation.

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