Genetic test for the risk of hereditary breast cancer and cancer in the gynecological area

In honor of Pink October, the reduced price is valid until the end of the month.

A prior appointment reservation is required!
Testing is possible from the entire territory of Croatia

Genetic tests for hereditary forms of cancer examine mutations in genes that increase the risk of developing cancer. This panel analyzes 25 genes that are clinically significant for assessing the risk of developing hereditary breast cancer and cancer in the gynecological area: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCM, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11 and TP53.

The most well-known syndromes whose risk is assessed by this test are hereditary breast and ovarian cancer and Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC).

For carriers of pathogenic mutations in the genes BRCA1 and BRCA2, the lifetime cancer risk is increased by 39-46%, while the risk of cancer in the gynecological area is higher by 12-20%.

Lynch syndrome is caused by inherited mutations in genes that encode proteins responsible for DNA repair (English DNA mismatch repair), most often MSH2 and MLH1, but also MSH6, PMS2 and EPCAM. In Lynch syndrome, there is an increased risk of developing multiple types of cancer, but the most significant increase in risk has been recorded for endometrial cancer, in the range of 40-60%.

The risk of developing breast cancer and cancer in the gynecological area is also influenced by other syndromes and genetic disorders analyzed in this panel: Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN; multiple hamartoma syndrome) and Peutz-Jeghers syndrome (STK11).

Inherited mutations in the genes RAD51C, RAD51D and BRIP1, that encode proteins responsible for DNA repair (English DNA mismatch repair), have a proven association with ovarian cancer.

A moderate risk of developing breast cancer is associated with mutations that shorten the proteins encoded by the genes PALB2, CHEK2 and ATM.

Additional information

• genetic counseling is included in the test priceappointments are arranged in consultation with the patient
• members of the patient’s immediate family (parents and children) can check whether they have up to 10 identified pathogenic variants at a more favorable price than 350.00 €,
• this test looks exclusively for inherited mutations and cannot replace tests that analyze somatic mutations in tissue samples (biopsies) and/or a liquid biopsy in patients who are currently diagnosed with a tumor/cancer.

Method and type of sample
The genes are analyzed from a blood sample or a buccal swab using next-generation sequencing. If necessary, mutations are confirmed using Sanger sequencing or the qPCR/ddPCR method.