Evaluating the Causes of Cancer in Young Patients


Full Title

Genomic Structural Variation in Cancer Susceptibility


In some young cancer patients, cancer seemingly occurs spontaneously without any known risk factors or family history. This study will look for new types of gene changes (mutations) that may be related to cancer in some young patients. Some mutations are passed on from parents to a child (offspring). Others are new and are seen for the first time in the offspring, but not in the parent. Some of these new mutations may cause cancers in the offspring.

In this study, researchers are seeking to identify new mutations related to cancer by studying both patients with cancer as well as their parents who don’t have cancer. Participants will complete a medical and family history questionnaire and also give a saliva or blood sample to be used for genetic analysis. Afterwards, the participant’s parents will also be asked to provide a saliva sample.


To be eligible for this study, patients must meet several criteria, including but not limited to the following:

  • Patients in this study will include those diagnosed with colorectal cancer at or before age 50, breast cancer at or before age 40, a germ cell tumor before age 40, or neuroblastoma or a primary bone sarcoma at or before age 21.
  • Patients must have a living mother or father without cancer who is willing to participate in the study.
  • Siblings who participate in the study must be age 18 or older.

For more information and to inquire about eligibility for this study, please contact Dr. Zsofia Stadler at 646-888-4070.