BRCA MUTATION TESTING: ETHICAL AND COUNSELING PERSPECTIVES ON GYNECOLOGIC AND BREAST CANCER RISK

Main Article Content

R Hansli, MD Vijaya Rani
Anitha, Dr. Harsimranjit Kaur
Dr. Gaurav Bajaj, Kiran Haridas

Abstract

Abstract

In order to identify individuals who are at a higher risk for gynecologic and breast malignancies, BRCA mutation testing is essential. The risk of breast cancer and other cancers is greatly increased by harmful mutations in the BRCA1 and BRCA2 genes.


Methods


This study was directed to examine the impact of BRCA mutations on cancer risk, the effectiveness of genetic counseling, and the role of molecular genetic testing in identifying pathogenic variants. Data synthesis involved analyzing studies reporting cancer risks associated with BRCA mutations, genetic testing methodologies, and recommended surveillance and risk management strategies.


Results


BRCA1- and BRCA2-associated hereditary breast cancer are characterized by an increased risk of various cancers, with estimates varying depending on gender and mutation type. Women with BRCA mutations have higher incidences of breast while men with BRCA2 mutations are more susceptible to breast cancers. Molecular genetic testing, particularly sequence analysis, is effective in detecting pathogenic variants, although gene-targeted deletion/duplication analysis has lower sensitivity. Surveillance and risk-reducing strategies, such as enhanced screening and prophylactic surgeries, are recommended for BRCA variant carriers to mitigate cancer risks.


Conclusion


BRCA mutation testing in identifying high-risk individuals for breast cancers, emphasizing the necessity of genetic counseling and personalized risk management for informed decision-making and improved patient outcomes. Ethical considerations highlight the importance of informed consent and ethical concerns, emphasizing the need for a holistic approach to optimize cancer care.


 

Article Details

How to Cite
MD Vijaya Rani, R. H., Dr. Harsimranjit Kaur, A., & Kiran Haridas, D. G. B. (2024). BRCA MUTATION TESTING: ETHICAL AND COUNSELING PERSPECTIVES ON GYNECOLOGIC AND BREAST CANCER RISK. Obstetrics and Gynaecology Forum, 34(3s), 1666–1669. Retrieved from https://obstetricsandgynaecologyforum.com/index.php/ogf/article/view/557
Section
Articles

Similar Articles

1 2 3 4 5 6 7 8 > >> 

You may also start an advanced similarity search for this article.