Assessing Personal Cancer Risk in Women Using App-Based Questionnaires and Blood and Saliva Tests

Cancers such as breast, lung, and colorectal cancer result from a combination of several factors. These include genetic predisposition (e.g., inherited or common minor genetic variations), family history, lifestyle (smoking, physical activity, and diet), hormonal influences, and environmental factors. Many people want to know how they can better understand their personal cancer risk and plan their screening effectively. In addition to traditional screening tests, so-called “biomarkers” are gaining importance. The term refers to measurable characteristics—found, for example, in blood or saliva—that can provide clues about risk or very early changes. So-called polygenic risk scores also combine many small genetic differences into a single number intended to better assess an individual’s risk, for example, of breast cancer. The goal of all these approaches is to enable a more precise assessment of personal risk and thereby improve screening and counseling through earlier or more frequent checkups for people at higher risk, while at the same time reducing the burden on people at lower risk.

The objective of this study is to examine whether risk can be better assessed by combining multiple data sources: genetic information (e.g., a “polygenic risk score” as a numerical value for 10-year breast cancer risk), lifestyle and screening data from a study app, as well as laboratory test results from blood or saliva (optional: breath, urine, and stool). Standard cancer treatments today are based on tumor type and stage. However, this study does not test any treatment; rather, it is a prevention/diagnostic study. All women will provide a one-time sample of biological material (blood or saliva is required; additional samples are voluntary) and use the “BayPass” mobile app for 12 months to complete questionnaires and report results from preventive care and screening examinations. In this way, women with a known cancer diagnosis (case group) are compared with healthy women (control group). The main question of the study is how well the polygenic risk score, together with information from the app, reflects an individual’s 10-year risk of breast cancer.

Women aged 18 and older who are healthy or have a current or previous diagnosis of breast, lung, colorectal, or gynecological cancer are eligible to participate. Gynecological cancers include ovarian cancer (ovarian carcinoma), endometrial cancer (endometrial carcinoma), cervical cancer (cervical carcinoma), fallopian tube cancer (tubal carcinoma), vaginal cancer (vaginal carcinoma), and vulvar cancer (vulvar carcinoma). A smartphone capable of running the app is required to participate.

As part of the registry study, patients can also participate in a biannual online survey (via email) that assesses the course of the disease, lifestyle, well-being, and quality of life. This helps us better understand what the disease means for patients in their daily lives, so we can learn how to improve counseling and follow-up care in particular.

The survey consists of a more detailed initial survey and a short follow-up survey, which is repeated every 6 months. The data is collected in pseudonymized form.