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About Inherited Risk for Cancer

Jane Churpek, MD, and Sarah Nielsen, MS, CGC meet with a patient in the cancer risk clinic. Program co-director Jane Churpek, MD, center, and genetic counselor Sarah Nielsen, MS, CGC, right, meet with a patient in clinic.

In most cases, the abnormal gene function responsible for cancer develops by chance or is related to a risk factor such as smoking or obesity. But in some instances, individuals inherit an abnormal, or mutated, gene from one or both of their parents. This hereditary mutation contributes to the risk of developing cancer during a person’s lifetime. Cancers that affect multiple family members and pass from generation to generation are referred to as familial cancer syndromes.

At the University of Chicago Comprehensive Cancer Risk and Prevention Clinic, our physicians and genetic counselors use personal and family history as well as genetic testing to assess cancer risk of individuals and their family members.

Cancer types for which mutations have been found and genetic testing is available include:

Other Common Familial Cancer Syndromes

Cowden syndrome

Cowden syndrome (CS) is a genetic disorder characterized by multiple noncancerous growths (hamartomas) and an increased risk of cancers, most commonly in the breast, uterus and thyroid. Most forms of CS are linked to a mutation in the PTEN gene.

Li-Fraumeni syndrome

Li-Fraumeni syndrome (LFS) is a genetic disorder associated with an increased risk of developing several forms of cancer, including soft tissue sarcoma, breast cancer, leukemia, lung cancer, brain tumors and adrenal gland tumors. Most types of LFS are associated with a mutation in the TP53 gene.

Hereditary forms of melanoma

Familial malignant melanoma refers to families in which two or more close relatives have the skin cancer called melanoma. Mutations in three genes have been linked to familial malignant melanoma:

  • CDKN2A
  • CDK4
  • BRCA2 (a inherited breast cancer gene) has also been associated with a higher risk of melanoma

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For more information, call Felicia Steverson, Cancer Risk Administrative Coordinator, at (773) 702-1093.