Testing for mutations in BRCA1 and BRCA2 among ovarian cancer patients at a diverse academic medical center.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10588-10588
Author(s):  
Caitlin Taylor ◽  
Ryan Mooney ◽  
Yuan Liu ◽  
Yichun Cao ◽  
Elizabeth Sakach ◽  
...  

10588 Background: Testing for mutations in BRCA1 and BRCA2 is recommended for all women with ovarian cancer (OC), given important implications for treatment and prognosis. Despite this recommendation, studies show that only a small percentage of OC patients (pts) undergo genetic testing (GT). In this study, we evaluated rates of genetics referral, counseling and testing among OC pts at an academic medical center. Our goal was to identify factors associated with lower rates of GT. Given the large Black population at our center, we specifically wanted to evaluate the association between race and GT given limited existing data on this issue. Methods: Retrospective chart review was performed evaluating rates of referral and uptake for GT, and percentages of BRCA mutation carriers among pts with OC diagnosed and treated at Emory’s Winship Cancer Institute between 2008 and 2018. Associations between age, race, histology, family history (FH), performance status, provider characteristics and genetics referral and testing were evaluated using logistic regression models. Results: Of the 171 pts who met inclusion criteria, the majority were age 55 or older (62%) with high grade serous carcinoma (60.8%). Pts were predominantly Caucasian (59.4%), followed by Black (29.1%), Asian (10.3%) and Hispanic (1.2%). Overall, GT rates were low with 44.7% of pts referred for genetic counseling and 39.8% receiving testing. Among pts who did receive GT, the percentage of deleterious BRCA1 and BRCA2 mutations identified was 11% and 8.8% respectively. Variables correlating with higher likelihood of genetics discussion, referral and testing included serous histology (50% vs 23.9% non-serous, p < 0.001), Caucasian or Asian race (87.5% Asian, 58.8% Caucasian vs 42.2% Black, p = 0.003) and seeing a medical oncologist (67.5% vs 44.7% seeing gynecologic oncologist alone, p = 0.004). Notably, while fewer Black women were referred for GT (25.9% vs 74.1% Caucasian), those that did undergo GT were found to have higher rates of BRCA1 and BRCA2 mutations when compared to Caucasian pts (22.2% vs 8.2% BRCA1; 11.1% vs 6.0% BRCA2). Pts with a FH of OC were more likely to undergo GT (69.2% vs 37.9%, p = 0.027), and pts with a FH of breast cancer were more likely be referred for testing (57.1% vs 39.6%, p = 0.042), suggesting that FH impacted referral patterns. Conclusions: The rates of GT among OC pts at our institution were lower than expected despite the broad recommendation for GT in this population. It is imperative to improve access to GT for all OC pts regardless of FH, and in particular among Black pts given the higher rates of BRCA mutations in this population. Pts and providers must work together to overcome barriers to genetics referral and testing in order to improve GT rates and clinical outcomes. Further research is needed to design interventions that may help improve adherence to this important recommendation in the future.

2000 ◽  
Vol 10 (4) ◽  
pp. 289-295 ◽  
Author(s):  
A. Koul ◽  
S. Malander ◽  
N. Loman ◽  
T. Pejovic ◽  
S. Heim ◽  
...  

Author(s):  
Muhannad Shweash ◽  
Saddam Jumaa Naseer ◽  
Maisam Khider Al-anii ◽  
Thulfiqar Fawwaz Mutar

Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total of 25 subjects were chosen for the genetic studies, and three groups were recruited: fifteen ovarian cancer patients group, five healthy controls, and five first-degree relatives to a known case of ovarian cancer patients.Results: A genetic analysis revealed that a strong correlation exists between both gene mutations’ status in ovarian cancer, and BRCA gene mutations (185delAG, 5382insC, and 4153delA in BRCA1 and 6174delT in BRCA2) remained to establish to have a relatively high frequency among people in this study among ovarian cancer patients. Furthermore, seven patients with ovarian cancer carried all of the four investigated mutations, and five had three mutations.Conclusion: Otherwise, BRCA gene frequency showed low prevalence among first-degree relatives, and to a lesser extent among healthy controls, with only a few had all of the mutations combined. These data demonstrate for the first time a molecular link between BRCA1 and BRCA2 mutations in ovarian cancer progression in Iraq.


2011 ◽  
Vol 152 (40) ◽  
pp. 1596-1608 ◽  
Author(s):  
József Gábor Joó ◽  
Szabolcs Ládi ◽  
B. Zsolt Nagy ◽  
Zoltán Langmár

Mutations in BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancers. Approximately 10% of cases of ovarian cancer are due to germline mutations in BRCA1 and BRCA2. Ovarian cancer associated with BRCA1 and BRCA2 mutations has a distinct histological phenotype. This type of cancer is predominantly of serous or endometrioid histology and is high grade. Patients with BRCA1 or BRCA2 mutations should be offered risk-reducing salpingo-oophorectomy by age 40 years, or when childbearing is complete. Nowadays there are no differences between the treatments provided for sporadic and hereditary ovarian cancer, although there are indications that targeted therapy is effective in women with BRCA1/BRCA2-associated tumors. Retrospective studies reveal a high level of sensitivity to platinum agents in BRCA-associated tumors and initial trials show good efficacy and tolerability for polyADP-ribose polymerase inhibitors in mutation carriers with advanced ovarian cancers. These agents might also potentially be used in chemoprevention. Authors review the current management of hereditary ovarian cancer. Orv. Hetil., 2011, 152, 1596–1608.


2018 ◽  
Vol 9 (3) ◽  
pp. 33 ◽  
Author(s):  
Suha Al-Oballi Kridli ◽  
Holly Austin

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.


2018 ◽  
pp. JGO.18.00066 ◽  
Author(s):  
Omalkhair Abulkhair ◽  
Mohammed Al Balwi ◽  
Ola Makram ◽  
Lamia Alsubaie ◽  
Medhat Faris ◽  
...  

Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country. Methods This prospective observational study intended to determine the prevalence of BRCA1 and BRCA2 mutations and sought to examine the clinicopathologic features of BC associated with these mutations. Results Of 310 patients, 270 (87%) had no mutation. BRCA mutations were identified in 40 patients; BRCA1 mutations were found in 11% of patients, and BRCA2 mutations were found in 2% of patients. Variants of unknown significance were found in 15% of patients (45 patients). Triple-negative BC (TNBC) accounted for 86% of all patients with BC and mutations. The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients. One novel mutation was identified in the BRCA1 gene (c.5512 dup [p.Glu1838Glyfs*42]). Conclusion Among high-risk Saudi patients with BC, BRCA1 mutations are prevalent (11%). TNBC is the most common BC subtype. Furthermore, age alone does not have a significant association with mutation, but a combination of risk factors such as age, familial history, and TNBC has a significant association with BRCA mutation.


2008 ◽  
Vol 113 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Nan-Yan Rao ◽  
Zhen Hu ◽  
Wen-Feng Li ◽  
Juan Huang ◽  
Zhong-Liang Ma ◽  
...  

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