scholarly journals A case series of sporadic breast and ovarian cancers in Salentinian families with BRCA mutation-associated Hereditary Breast and Ovarian Cancer (HBOC) syndrome

2016 ◽  
Vol 27 ◽  
pp. iv67
Author(s):  
E. De Matteis ◽  
M.R. De Giorgio ◽  
P. Tarantino ◽  
G. Ronzino ◽  
M. Ciccarese ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca Mutation ◽  
Case Series ◽  
Breast And Ovarian Cancer ◽  
Ovarian Cancers

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.

Determinants of serum adiponectin levels: a cross-sectional study

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Azar Sattarinezhad ◽  
Akbar Rasekhi Kazerouni ◽  
Gholamhossein Ranjbar Omrani ◽  
Mesbah Shams
Keyword(s):  
Ovarian Cancer ◽  
Germ Line ◽  
Brca Mutation ◽  
Bilateral Mastectomy ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Double Blind ◽  
Cross Sectional ◽  
Mutation Carriers

Abstract Objectives To review non-surgical prevention strategies in women with hereditary breast and ovarian cancer syndromes. Content Women with a gBRCA1 or 2 mutations face a high cumulative breast and ovarian cancer risk. While bilateral mastectomy (PBM) and bilateral salpingo-oophrectomy (PBSO) profoundly reduce the respective cancer risks, they are also associated with considerable side effects. There is therefore an urgent need for alternative and non-surgical risk reduction options. Tamoxifen and aromatase inhibitors have both been evaluated in secondary prevention, but their benefit in primary prevention is currently unknown in BRCA mutation carriers. In addition, their use is compromised by their side effect profile which makes them less appealing for a use in chemoprevention. Summary and outlook Denosumab is a well-tolerated osteoprotective drug, which has been demonstrated to have a potential preventive effect particularly in BRCA1-deficient models in vitro. The prospectively randomized double-blind BRCA-P trial is currently investigating the preventative effect of denosumab in healthy BRCA1 germ line mutation carriers.

scholarly journals Factors influencing women’s decisions to getting tested for BRCA mutation

2018 ◽  
Vol 9 (3) ◽  
pp. 33 ◽  
Author(s):  
Suha Al-Oballi Kridli ◽  
Holly Austin
Keyword(s):  
Ovarian Cancer ◽  
Brca Mutation ◽  
Genetic Mutations ◽  
Inclusion Criteria ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Factors Influencing ◽  
Brca1 And Brca2 Mutations ◽  
Internal And External Factors

Ovarian cancer is the leading cause of death among gynecological cancers. There are many risk factors that can increase a woman’s susceptibility to breast and ovarian cancers, some of which are modifiable.  However, non-modifiable risks for breast and ovarian cancer include the presence of genetic mutations (BRCA) increase the risk of these diseases. The purpose of this review was to identify factors, reported in the literature, known to affect women’s decision to get genetic testing for BRCA1 and BRCA2 mutations for hereditary breast and ovarian cancer. A total of 31 studies that met the inclusion criteria were included in this review. Several internal and external factors, influencing women’s decision to getting tested for BRCA mutations, were identified and explained. Implications for clinical practice were provided.

scholarly journals Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening

2021 ◽  
Vol 10 ◽  
Author(s):  
Mohammed Shaad N. Kadri ◽  
Komal M. Patel ◽  
Poonam A. Bhargava ◽  
Franky D. Shah ◽  
Nutan V. Badgujar ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Early Detection ◽  
In Silico ◽  
Indian Population ◽  
Brca2 Gene ◽  
Breast And Ovarian Cancer ◽  
Prediction Tools ◽  
Ovarian Cancers ◽  
Brca Genes ◽  
Pathogenic Mutations

BackgroundBreast and ovarian cancers are the most prevalent cancers and one of the leading causes of death in Indian women. The healthcare burden of breast and ovarian cancers and the rise in mortality rate are worrying and stress the need for early detection and treatment.MethodsWe performed amplicon sequencing of 144 cases who had breast/ovarian cancer disease (total 137 cases are patients and seven are tested for BRCA1/2 carrier) Using our custom designed gene panel consisting of 14 genes, that are associated with high to moderate risk of breast and ovarian cancers. Variants were called using Torrent Variant Caller and were annotated using ThermoFisher’s Ion Reporter software. Classification of variants and their clinical significance were identified by searching the variants against ClinVar database.ResultsFrom a total of 144 cases, we were able to detect 42 pathogenic mutations in [40/144] cases. Majority of pathogenic mutations (30/41) were detected in BRCA1 gene, while (7/41) pathogenic mutations were detected in BRCA2 gene, whereas, (2/41) pathogenic mutations were detected in TP53 gene and BRIP1, PALB2, and ATM genes respectively. So, BRCA genes contributed 88.09% of pathogenic mutations, whereas non-BRCA genes contributed 11.91% of pathogenic mutations. We were also able to detect 25 VUS which were predicted to be damaging by in silico prediction tools.ConclusionEarly detection of cancers in the Indian population can be done by genetic screening using customized multi-gene panels. Indications of our findings show that in the Indian population, apart from the common BRCA genes, there are other genes that are also responsible for the disease. High frequency mutations detected in the study and variants of uncertain significance predicted to be damaging by in silico pathogenicity prediction tools can be potential biomarkers of hereditary breast and ovarian cancer in Indian HBOC patients.

scholarly journals A discrete event simulation to evaluate the cost effectiveness of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer

2016 ◽  
Author(s):  
Anthony Eccleston ◽  
Anthony Bentley ◽  
Matthew Dyer ◽  
Ann Strydom ◽  
Wim Vereecken ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cost Effectiveness ◽  
Brca Mutation ◽  
Discrete Event ◽  
Cost Effective ◽  
Mortality Rates ◽  
Brca Testing ◽  
Breast And Ovarian Cancer ◽  
Event Simulation ◽  
Risk Reducing

AbstractObjectivesThe objective of this study was to evaluate the long-term cost-effectiveness of germline BRCA1 and BRCA2 (collectively termed ‘BRCA’) testing in women with epithelial ovarian cancer, and testing for the relevant mutation in first and second degree relatives of BRCA mutation-positive individuals, compared with no testing. Female BRCA mutation-positive relatives of ovarian cancer patients could undergo risk-reducing mastectomy and/or bilateral salpingo-oophorectomy.MethodsA discrete event simulation model was developed that included the risks of breast and ovarian cancer, the costs, utilities and effects of risk-reducing surgery on cancer rates, and the costs, utilities and mortality rates associated with cancer.ResultsBRCA testing all women with epithelial ovarian cancer each year is cost-effective at a UK willingness-to-pay threshold of £20,000/QALY compared with no testing, with an ICER of £4,339/QALY. The result was primarily driven by fewer cases of breast (142) and ovarian (141) cancer and associated reductions in mortality (77 fewer deaths) in relatives over the subsequent 50 years. Sensitivity analyses showed that the results were robust to variations in the input parameters. Probabilistic sensitivity analysis showed that the probability of germline BRCA mutation testing being cost-effective at a threshold of £20,000/QALY was 99.9%.ConclusionsImplementing germline BRCA testing in all ovarian cancer patients would be cost-effective in the UK. The consequent reduction of future cases of breast and ovarian cancer in relatives of mutation-positive individuals would ease the burden of cancer treatments in subsequent years and result in significantly better outcomes and reduced mortality rates for these individuals.

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.

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