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

А. В. Шумицький, О. А. Бурка, І. В. Сідорова

Abstract


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.


Keywords


breast cancer; ovarian cancer; testing, genetics; oncomarkers

References


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Miki, Y., Swensen, J., Shattuck Eidens, D., et al. “A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.” Science 266 (1994): 66–71.

Wooster, R., Bignell, G., Lancaster, J., et al. “Identification of the breast cancer susceptibility gene BRCA2.” Nature 378 (1995): 789–92.

Mavaddat, N., Peock, S., Frost, D., et al. “Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.” J Natl Cancer Inst 105.11 (2013): 812–22.

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GOST Style Citations


1. Toss, A., Tomasello, C., Razzaboni, E., et al. “Hereditary ovarian cancer: not only BRCA 1 and 2 genes.” Biomed Res Int (2015): 341723. DOI: 10.1155/2015/341723

2. Miki, Y., Swensen, J., Shattuck Eidens, D., et al. “A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.” Science 266 (1994): 66–71.

3. Wooster, R., Bignell, G., Lancaster, J., et al. “Identification of the breast cancer susceptibility gene BRCA2.” Nature 378 (1995): 789–92.

4. Mavaddat, N., Peock, S., Frost, D., et al. “Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.” J Natl Cancer Inst 105.11 (2013): 812–22.

5. Paluch-Shimon, S., Cardoso, F., Sessa, C., et al., on behalf of the ESMO Guidelines Committee. “Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening.” Annals of Oncology 27 Suppl 5 (2016): v103–10.

6. BRCA1/BRCA2 Analysis. GeneDx (2016). Available from: [https://www.genedx.com/wp-content/uploads/2017/01/BRCA1-BRCA2-Analysis-Panel-Fact-Sheet.pdf], last accessed May 8, 2018.

7. Chappuis, P.O., Bolliger, B., Bürki, N., et al., on behalf of the Swiss Group for Clinical. Swiss guidelines for counseling and testing for genetic predisposition to breast and ovarian cancer. Cancer Research (SAKK) Network for Cancer Predisposition Testing and Counseling. Available from: [http://sakk.ch/fileadmin/customer/Open_section/SAKK_provides/For_ patients/Genetic_Counselling/Guidelines_BrOvCa_Testing_revised. pdf], last accessed May 8, 2018.

8. Molina, R., Barak, V., van Dalen, A., et al.; Laboratory of Biochemistry, Hospital Clinic, Medical School, Barcelona, Spain. “Tumor markers cancer – European Group on Tumor Markers recommendations.” Tumor Biol 26.6 (2005): 281–93.

9. ARUP Laboratories. Risk of Ovarian Malignancy Algorithm (2013). Available from: [https://www.aruplab.com/].

10. Siu, A.L.; U.S. Preventive Services Task Force. “Screening for breast cancer: U.S. Preventive Services Task Force recommendation statement.” Annals of Internal Medicine 164.4 (2016): 279–96.

11. Oeffinger, K.C., Fontham, E.T., Etzioni, R., et al; American Cancer Society. “Breast cancer screening for women at average risk: 2015 guideline update from the American Cancer Society.” JAMA 314.15 (2015): 1599–1614.

12. American College of Obstetricians-Gynecologists. “Practice bulletin No. 122: Breast cancer screening.” Obstetrics and Gynecology 118.2 Pt 1 (2011): 372–82.

13. Lauby-Secretan, B., Loomis, D., Straif, K. “Breast-cancer screening – viewpoint of the IARC Working Group.” New England Journal of Medicine 373.15 (2015): 1478–9.

14. Lee, C.H., Dershaw, D.D., Kopans, D., et al. “Breast cancer screening with imaging: recommendations from the Society of Breast Imaging and the ACR on the use of mammography, breast MRI, breast ultrasound, and other technologies for the detection of clinically occult breast cancer.” Journal of the American College of Radiology 7.1 (2010): 18–27.

15. Wilt, T.J., Harris, R.P., Qaseem, A.; High Value Care Task Force of the American College of Physicians. “Screening for cancer: advice for high-value care from the American College of Physicians.” Annals of Internal Medicine 162.10 (2015): 718–25.

16. American Academy of Family Physicians. Summary of recommendations for clinical preventive services (2016). Available from: [https://www.aafp.org/].

17. Наказ МОЗ України № 396 від 30.06.2015 р. Уніфікований клінічний протокол первинної, вторинної (спеціалізованої) і третинної (високоспеціалізованої) медичної допомоги. Рак молочної залози.





DOI: https://doi.org/10.18370/2309-4117.2018.41.43-47

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