Medical knowledge and information needs among women with pathogenic variants in moderate-risk genes for hereditary breast cancer attending genetic counseling at an academic hospital in Germany-A qualitative approach

With 69,000 newly diagnosed cases every year, breast cancer (BC) is the most frequent cancer disease among women in Germany. Familial clustering is seen in about 30% of newly diagnosed cases. Besides the high-risk genes BRCA1/2, there are also moderate-risk BC genes (MBCG) that are associated with a 20%-50% risk of BC, such as CHEK2, ATM, and PALB2. In Germany, carriers of pathogenic variants in MBCG receive specific information on their test results, individual risks, and preventive options during genetic counseling for the disclosure of the results in a specialized center. Little is known about the medical knowledge that women have after attending counseling. This study aims to identify the medical knowledge, further information needs, and the possible impact of a lack of information on dealing with everyday life for women with pathogenic variants in MBCG who have attended genetic counseling at an academic hospital in Germany. Problem-centered, guided, individual interviews were conducted with twelve women carrying pathogenic variants in MBCG. The interview guide was developed based on the methods of the problem-centered interview according to Witzel. The interview analysis was based on Mayring's qualitative content analysis. The women were between 29 and 59 years old and carried pathogenic variants in the risk genes CHEK2 (n = 8), ATM (n = 1), or PALB2 (n = 3). Several medical uncertainties and information needs emerged from the data, concerning (a) medical terms, (b) risk perception, (c) BC therapy for hereditary BC, (d) lifestyle advice and risk factors, and (e) family planning and risk-reducing mastectomy. Women with pathogenic variants in MBCG might develop their own conceptions regarding the onset of disease and inheritance. In order to meet the need for information and address the uncertainties that may still exist after genetic counseling, structured, evidence-based and comprehensible written information in German should be developed for this group.