NCCN Guidelines for men and women with Li-Fraumeni syndrome (TP53 Mutations)
Breast cancer screening for women
- Learning to be aware of changes in breasts beginning at age 18
- Clinical breast exam every 6-12 months beginning at age 20
- Annual breast MRI with contrast or mammogram beginning at age 20 (MRI preferred) or at the age of earliest breast cancer diagnosis if there is a history of breast cancer before age 20 in family
- Annual breast MRI and mammogram beginning at age 30
- Consider 3D mammography
- Screening after age 75 should be considered on an individual basis
Breast cancer risk reduction for women
- Discussion of risk-reducing mastectomy
Additional cancer screening for men and women
- Annual physical exam
- Annual skin cancer screening starting at age 18
- Annual whole body MRI
- Annual brain scan (either as part of whole body MRI or separately)
- Consider colonoscopy every 2-5 years beginning at age 25
- Additional screening based on family cancer history
- Alert pediatricians to the mutation in the family and the associated risk of childhood cancers
- Provide education regarding signs and symptoms of cancer
- Address psychosocial, social and quality of life aspects of the complext management of Li-Fraumeni Syndrome
- For patients of reproductive age, advise about options for prenatal diagnosis and assisted reproduction including pre-implantation genetic diagnosis.
Risk to relatives
- Advise about possible inherited cancer risk to relatives, options for risk assessment, and management.
- Recommend genetic counseling and consideration of genetic testing for at-risk relatives.