Cancer Predisposition Research

Understanding the genetics and underlying molecular mechanisms that predispose children and adolescents to various cancers can help to improve the early diagnosis of the cancer, which in turn improves the prognosis and informs treatment options for cancers that are detected by screening.

Researchers at the Center for Childhood Cancer Research are using the latest advances in oncology, molecular biology and genetic analyses to provide care and counseling to children with genetic predispositions to cancer.

The efforts of investigators at the CCCR have resulted in the establishment of a cancer predisposition program at CHOP. This Program offers the following services:

• Evaluation of patients who are suspected of having a genetic predisposition to cancer, including family history, physical findings, and the type of tumor (if any);
• State-of-the-art genetic testing of germline (normal cell) DNA for mutations or rearrangements of cancer predisposing genes;
• Genetic counseling to understand the significance of positive (or negative) findings for the individual and others in the family;
• A cancer surveillance program (in most cases) to identify cancers early when they are more easily cured;
• Transition to colleagues at Penn or elsewhere for continued surveillance once the individual reaches adulthood (~20 years of age).

We are leading a worldwide effort to develop a consensus on the major genetic disorders or syndromes associated with cancer predisposition, and which patients would benefit from a cancer surveillance protocol. If surveillance is deemed appropriate, we will have a consensus on when we start surveillance, when we stop (if at all), what tests we do, how often we perform them, and whether it changes over time. Ultimately, these efforts will lead to the identification or new predisposition genes, how the genetic change may inform the surveillance that is done, and ultimately studies that might lead to cancer prevention in these high-risk individuals.