Biomedical
Genetic testing for hereditary breast cancer in Poland: 1998–2022
Peer Reviewed
Abstract
BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1. The majority of mutations consist of three founder mutations. A rapid inexpensive test for these three mutations can be used to screen all Polish adults at a reasonable cost. In the region of Pomerania of North-western Poland nearly half a million tests have been performed, in large part through engaging family doctors and providing ready access to testing through the Pomeranian Medical University. The following commentary provides a history of genetic testing for cancer in Pomerania and the current approach to facilitating access to genetic testing at the Cancer Family Clinic for all adults living in the region.
Key Questions
What is the prevalence of BRCA1 mutations among Polish breast and ovarian cancer patients?
Approximately 4% of breast cancer patients and 10% of ovarian cancer patients in Poland carry a BRCA1 mutation.
Which BRCA1 founder mutations are most common in Poland?
The three founder mutations—5382insC, C61G, and 4153delA—account for about 80% of pathogenic BRCA1 mutations in the Polish population.
How has genetic testing for hereditary breast cancer evolved in Poland since 1998?
Since 1998, Poland has implemented a rapid and inexpensive test for the three common BRCA1 mutations, engaging family doctors and providing access through the Pomeranian Medical University, resulting in nearly half a million tests performed.
What strategies have been employed to facilitate access to genetic testing in Poland?
Strategies include engaging family doctors, establishing a network of hospital-based clinical cancer centers, and offering free testing initiatives, such as through the women's magazine Twoj Styl.
