Laboratory assessment of the risks of malignant neoplasms of the mammary gland and ovaries

• Main Authors: А. В. Шумицький, О. А. Бурка, І. В. Сідорова
• Format: Article
• Language: English
• Published: Publishing House TRILIST 2018-06-01
• Series: Репродуктивная эндокринология
• Subjects: breast cancer; ovarian cancer; testing; genetics; oncomarkers
• Online Access: http://reproduct-endo.com/article/view/133775

In most cases, oncological diseases are hereditary: for breast cancer – 5–10%, and for ovarian cancer – 10–17%, and associated with the support of mutations in certain genes derived from one of the parents. Genetic testing can identify predisposition to hereditary forms of cancer and direct efforts to prevent and early diagnosis of cancer. BRCA1 and BRCA2 are the main genes that are involved in the development of hereditary breast and ovarian cancer syndrome. Mutations in the BRCA1 and BRCA2 genes are caused by 20–50% of the hereditary forms of breast cancer, 90–95% of hereditary ovarian cancer cases in women, and up to 40% of breast cancer cases in males. Mutations in the BRCA1 and BRCA2 genes cause an increased risk of breast cancer and ovarian cancer. In the carriers of mutations of these genes, breast cancer has morphological, molecular and immunophenotypic features. Unlike sporadic, BRCA-associated breast cancer is characterized by a higher degree of malignancy. The article prescribes, among other things, the two most common methods for detecting mutations in the BRCA1 and BRCA2 genes, which are currently used in world-wide laboratory diagnostics. The first method is a real-time polymerase chain reaction method used to detect mutations of the most common gene variants. The second method is the Next-Generation Sequencing (NGS) sequencing, which complete genome sequencing to exclude the carrier of frequent and rare mutations. In addition, the authors cite the recommendations of a number of leading American organizations and the Ministry of Health of Ukraine regarding the timing of screening for breast cancer, depending on age and hereditary/genetic risks of development of the oncological diseases. ML DILA offers the identification of the most common BRCA1 and BRCA2 variants among the European mutation population, as well as the ability to detect not only the genetic risks of cancer, but also to evaluate the progression and monitoring of treatment by the definition of oncologists.