RSU experts outline advice for women concerned about hereditary breast or ovarian cancer

Writers: Arvīds Irmejs (Assoc. Prof., Director of the RSU Institute of Oncology and Molecular Genetics),
Zanda Daneberga (Prof. Dr. med., Deputy Director for Molecular Oncology at the RSU Institute of Oncology and Molecular Genetics, Manager of Laboratory of Tumour Clinical and Genetic Research) 

Cancer, especially at an early age (up to 50) is a difficult experience not only for a patient, but also for their relatives. It can cause not only emotional distress, but also fear – could this affect me as well? Science has advanced, and it is now possible to detect whether a person who is currently oncologically healthy has inherited genetic mutations that significantly increase the likelihood of developing cancer. And most importantly – there are effective steps that can be taken, if the risk is higher, to allow cancer to be detected very early and treated more gently or even prevented altogether.

Photo: Courtesy of Shutterstock.com 

Genetically inherited cancer means that the development of a tumour is determined by specific gene defects or mutations that are passed down from generation to generation (in other cases, the development of malignant tumours is primarily influenced by various other harmful factors). Estimates show that in Latvia, about 10,000 women of various age may have an increased risk of genetic or hereditary breast or ovarian cancer. This number includes women of all age who are born with a genetic mutation. One woman may fall ill around the age of 30, while another may remain healthy despite the risk even at the age of 80. However, it is important to understand that in the case of a gene mutation, the risk of developing cancer is significantly higher compared to the general population. In the case of breast cancer, women with BRCA1 or BRCA2 gene mutations (the genes in which mutations occur most frequently) have a 5–7 times higher risk of breast cancer than the general population, while in the case of ovarian cancer, the risk is 10–15 times higher.

Genetic cancer risk assessment (related to breast and ovarian cancer) is particularly recommended if:

• at least one blood relative has developed breast cancer before the age of 50;
• at least one blood relative has developed ovarian cancer at any age. 

How to apply for testing?

A gynaecologist can refer a woman for free blood tests that detect BRCA1 or BRCA2 gene mutations (to receive a free test, the gynaecologist must have a contract with the National Health Service). A woman can also visit a gynaecologist without a referral from a family doctor. A gynaecologist can refer her for genetic cancer testing both with or without a known family history of oncological diseases — the test will be available free of charge, covered by the state. 

As mentioned earlier, blood tests are paid for by the state. Meanwhile, RSU is currently conducting a study on breast and ovarian cancer*, where the same information that can be obtained from the above blood tests was analysed using saliva samples. These tests can be performed on any biological material, but saliva testing was chosen for the study because it is a painless method and does not cause additional stress for participants. In addition, it can be stored at room temperature for two years, and can be safely transported, which was particularly important as the study involved participants from across Latvia.

Genetic cancer research project to participate in 

The aforementioned RSU study on hereditary breast and ovarian cancer is ongoing, and oncologically healthy women aged 25 to 59 can apply to take part. It should be noted, however, that receiving test results may take longer, as the scientific laboratory needs first to gather a larger group of samples to test them at the same time.

Participating in the study means not only taking the test but also becoming aware of your family’s health history. It is an opportunity to help develop innovative diagnostic and preventive methods that are less invasive, simpler and more patient-friendly to maintain health.

Another genetic cancer project conducted by RSU in collaboration with Norwegian partners from Oslo University Hospital is related to colorectal and endometrial (uterine) cancer (these two cancers can also be genetically linked). For this study, people are invited to participate if they have two first-degree blood relatives with colorectal or endometrial cancer, with at least one diagnosed before the age of 50. Participants themselves may be either oncologically healthy or affected by cancer. The purpose of the study is to clinically assess the accuracy of the previously mentioned liquid biopsy, in order to perform as minimally invasive procedures as possible, such as colonoscopy and endometrial biopsy for patients with Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer).

Read the full article on LSM.lv

* The research project Development of genetic testing strategies for hereditary breast and ovarian cancer risk prediction by analysis of spectrum of predisposing mutations and their phenotypic manifestations (project nr. RSU-PAG-2024/1-0013).