A Cancer Predisposition Screening Tool for Young Adults with Cancer
Cet article présente un algorithme de dépistage des prédispositions génétiques au cancer pouvant permettre de déterminer si un jeune adulte atteint d'un cancer a besoin d'un conseil génétique et/ou d'un test génétique
One in twelve malignancies is diagnosed in a young adult between 20 and 39 years of age. One of the most relevant known causes of cancer in this age group, which is present in approximately 10% of cancer patients, is genetic cancer predisposition that originates from constitutional or postzygotic somatic (epi-)genetic variants leading to an increased cancer risk compared to the general population. The diagnosis of a cancer predisposition syndrome is important as it can affect cancer surveillance, prevention, and therapy. Universal gene-panel germline sequencing is offered by some centers, however, in clinical settings with limited resources, cancer predisposition syndrome screening tools can support the identification of those cancer patients who may benefit from genetic counselling and/or testing regarding underlying genetic diseases. Effective screening tools have been developed for children with cancer, but comparable cancer predisposition syndrome screening algorithms are lacking for young adults with cancer. We present here an easy-to-use cancer predisposition syndrome screening tool designed specifically for young adults with cancer. By combining available recommendations and disease-specific criteria, the algorithm is focusing on somatic genetic findings in malignant cells, specific cancer types strongly associated with cancer predisposition syndromes, and the personal and family past medical history. This tool may increase clinical awareness among oncologists and facilitate the diagnoses of cancer predisposition syndromes in young adults with cancer.
Journal of the National Cancer Institute , résumé, 2025