Ovarian tumors and genetic predisposition

Abstract

Objective: Summary of knowledge in the field of ovarian cancer and genetic predisposition.

Design: Review article.

Setting: Department of Medical Genetics, I. P. Pavlova 6, Olomouc University Hospital.

Methods: Literature review.

Results: Ovarian tumors are usually diagnosed at advanced stages of the disease and the prognosis for these patients is generally poor. The 5-year overall survival rate, regardless of the histopathological type of tumor, is around 44 %. Germline mutations causing hereditary tumor syndromes are predominantly involved in the development of epithelial ovarian tumors.  The most common is hereditary breast and ovarian cancer syndrome, which is caused by germline mutations in the tumor suppressor genes BRCA1 and BRCA2.

Several other tumor suppressor genes and oncogenes are known to be associated with ovarian tumors and cause other types of tumor syndromes. Inherited tumor syndromes include Lynch syndrome, Peutz-Jegers syndrome, Gorlin syndrome, Li Fraumeni syndrome and others.

The indication for genetic examination of germline mutations is given by a clinical geneticist on the basis of the recommendation of the attending physician. At present, every ovarian tumor, primary peritoneal tumor and tube tumor diagnosed at any age is indicated for genetic testing.

Conclusion: early identification of genes for hereditary cancer syndromes, thanks to rapidly developing molecular genetic methods, is an important step towards personalized treatment of ovarian cancer and preventive measures in families at risk. It is also important to note that a negative molecular genetic test result does not exclude genetic risk.