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Recommendation for genetic testing in patients suffering from gynecological malignancy


Authors: Doc. MUDr. Michal Zikán
Authors‘ workplace: Onkogynekologické centrum, Gynekologicko-porodnická klinika 1. LF UK a VFN, Praha, přednosta prof. MUDr. A. Martan, DrSc.
Published in: Ceska Gynekol 2015; 80(2): 97-103

Overview

Objective:
To present an overview of indications and recommendations for genetic testing in patients with hereditary susceptibility to develop malignant gynecological tumors.

Subject:
Review.

Setting:
Gynecological Oncology Center, Department of Obstetrics and Gynecology, Charles University, First Faculty of Medicine and General Faculty Hospital, Prague.

Subject and method:
Literature review and recommendations for practice based on evidence and clinical experience.

Conclusion:
Women with hereditary susceptibility to malignant gynecological tumors represent only a relatively small part of the population. However, it is a well-defined risk factor and set of preventive and prophylactic measures can minimize the risk of cancer development (or risk of death from tumor). Knowledge of the indications for genetic testing is one of the basic knowledge of every gynecologist.

Keywords:
hereditary susceptibility, BRCA1, BRCA2, Lynch syndrome, Peutz-Jeghers syndrome


Sources

1. Banno, K., Kisu, I., Yanokura, M., et al. Hereditary gynecological tumors associated with Peutz-Jeghers syndrome. Oncol Lett, 2013, 6, 5, p. 1184–1188.

2. Berek, JS. Ovarian cancer. In: Berek JS (ed) Novak´s Gy-necology, 13th ed. Philadelphia: Lippincott Williams & Wilkins, 2002, p. 1245–1319.

3. King, M-C., Marks, JH., Mandell, JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 2003, 302, p. 643–646.

4. Lalloo, F. Ed. Risk assesement and management in cancer genetics. Oxford: Oxford University Press, 2005, 274 p.

5. Lu, KH., Broaddus, RR. Gynecologic cancers in Lynch syndrome/HNPCC. Fam Cancer, 2005, 4, 3, p. 249–254.

6. Lu, KH., Dinh, M., Kohlmann, W., et al. Gynecologic cancer as a „sentinel cancer“ for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol, 2005, 105, 3,p. 569–574.

7. Lynch, HT., de la Chapelle, A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet, 1999, 36, 11, p. 801–818.

8. Modugno, F. Ovarian cancer and high-risk women-implications for prevention, screening, and early detection. Gynecol Oncol, 2003, 91, 1, p. 15–31.

9. Plevová, P., Novotný, J., Petráková, K., et al. Syndrom hereditárního karcinomu prsu a ovarií. Klin Onkol, 2009, 22, Suppl, p. S8–11.

10. Thompson, D., Easton, D. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev, 2002, 11, p. 329–336.

11. Ueki, A., Kisu, I., Baano, K., et al. Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS). OJGen, 2011, 1, p. 65–69.

12. Umar, A., Boland, CR., Terdiman, JP., et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst, 2004, 96, 4, p. 261–268.

13. Vasen, HF., Watson, P., Mecklin, JP., Lynch, HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology, 1999, 116, 6, p. 1453–1456.

14. Welcsh, PL., King, M-C. BRCA1 and BRCA2 and the genetics of brest and ovarian cancer. Hum Mol Genet, 2001, 10, p. 705–713.

15. Whittemore, AS., Gong, G., Itnyre, J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet, 1997, 60, p. 496–504.

16. Zikán, M., Sláma, J., Pinkavová, I., et al. Dědičná dispozice ke vzniku karcinomu endometria. Čes Gynek, 2011, 76, 3, p. 176–179.

17. Zikán, M. Profylaktické operace u žen s hereditární dispozicí ke vzniku gynekologických malignit. Čes Gynek, 2011, 76, 3, p. 216–221.

Labels
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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