Psychological Implications of Testing Positive for the BRCA Gene

Author(s):  
Timothy Pearman
Keyword(s):  
Author(s):  
N Besic ◽  
B Cernivc ◽  
J De Greve ◽  
K Lokar ◽  
M Krajc ◽  
...  

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.


2015 ◽  
Vol 17 (S1) ◽  
Author(s):  
Tom Evans ◽  
Jenny Long ◽  
Georgina Devenish ◽  
Mike Lewis ◽  
Damian Bailey ◽  
...  
Keyword(s):  

2019 ◽  
Author(s):  
Xianyu Zhang ◽  
Xiaohong Wang ◽  
Bingbing Song ◽  
Kang Shao ◽  
Guibo Li ◽  
...  

AbstractCurrently, over 20 genes have been defined that can confer susceptibility for high-risk breast cancer. Although research has proved the utility of multiple-gene sequencing in the assessment of breast cancer risk, there is little data from China patients. Here, we use a multiple-gene sequencing panel to identify the variant spectrum in Chinese high-risk breast cancer subjects.A total of 829 Chinese high-risk breast cancer patients participated in the research. The coding regions of 115 hereditary cancer susceptibility genes were sequenced using a next generation sequencing platform. In total, 193 pathogenic variants were identified in 45 genes from 177 patients. The pathogenic variant carrier rate is 21.4%: with 10.5% patients carrying a BRCA1 or BRCA2 mutation only, 10.0% of patients carried non-BRCA gene mutations only, while 1.0% of patients carried both a BRCA1/2 and a non-BRCA gene mutation. Variants of uncertain significance (VUS) totaling 2632 were identified in 115 genes from 787 of 829 patients: 82.5% patients carried more than one VUS, and only 5.1% patients did not carry any VUS. Families carrying pathogenic variants were tracked and adenoma was founded in three of them. Our data provide a comprehensive analysis of potential susceptibility variations of high-risk for breast cancer in a Chinese population. This data will be useful for the comparison of the susceptibility variation spectrum between different populations and to discover potential pathogenic variants to improve the prevention and treatment of high-risk breast cancer.


2021 ◽  
Vol 41 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Nieves Vanaclocha ◽  
Francisco Ripoll Orts ◽  
Maria Luisa Moreda Rubio ◽  
Alberto Sánchez García

2020 ◽  
Vol 256 ◽  
pp. 267-271
Author(s):  
Rachel Caskey ◽  
Brandon Singletary ◽  
Kareen Ayre ◽  
Catherine Parker ◽  
Helen Krontiras ◽  
...  

2018 ◽  
Vol 24 (24) ◽  
pp. 6277-6287 ◽  
Author(s):  
Titia G. Meijer ◽  
Nicole S. Verkaik ◽  
Anieta M. Sieuwerts ◽  
Job van Riet ◽  
Kishan A.T. Naipal ◽  
...  

2018 ◽  
Vol 14 ◽  
pp. 174550571775069 ◽  
Author(s):  
Maurie Markman

There is considerable interest and enthusiasm within the clinical gynecologic oncology community regarding the potential for poly (ADP-ribose) polymerase inhibitors to play a critically relevant role in the management of epithelial ovarian cancer and particularly (although not exclusively) in the setting of known mutations in the BRCA gene. This review will briefly highlight the biological rational for the use of poly (ADP-ribose) polymerase inhibitors in this malignancy, followed by summary of currently available clinical data supporting the delivery of agents approved by the US Food and Drug Administration for non-investigative use.


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