Genetic tumor risk syndromes : Human genetic aspects for radiologists

Abstract

Most malignant diseases develop sporadically. However, asignificant proportion of cancers are based on genetic predispositions. In this case, cancer develops as aresult of causal germline variants. In general, the associated diseases are called genetic tumor risk syndromes or cancer predisposition syndromes. Recognition of these syndromes is in the interest of those affected, as well as of their relatives, as this may have influence on immediate therapy or aftercare. In the course, risk-adapted surveillanceor risk-reducing operations may be indicated. Taking into account four signs (i.e., past medical history, characteristic tumors or suspicious age of onset, somatic alterations of the tumors, and family history), radiologists can contribute to the identification of patients with cancer predisposition. Besides appraisal of screening images, the expertise of radiologists is especially needed to develop and reevaluate risk-adapted surveillance programs.