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
Pancreatic cancer screening is done using two types of medical procedures:
- Magnetic resonance cholangiopancreatography (MRCP) is a special type of imaging MRI that is used to look at the pancreas, liver, gallbladder, bile duct and pancreatic duct.
- Endoscopic ultrasound (EUS) involves passing a tiny scope with an attached ultrasound probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.
Experts guidelines say:
- People with a mutation in Li-Fraumeni and those with a family history of pancreatic cancer, are encouraged to discuss the pros and cons of annual screening with their health care provider.
- Experts do not currently recommend pancreatic cancer screening for people with a TP53 mutation who do not have a close family history of pancreatic cancer.
- For those who decide to undergo pancreatic cancer screening, consider beginning at age 50 or 10 years earlier than the earliest pancreatic cancer diagnosis in the family.
- Screening should begin with annual MRCP and/or EUS (both ideally performed at a center with expertise).
People with a TP53 mutation may also be eligible for pancreatic cancer screening clinical trials. Visit our research study page for links to clinical trials for early detection of pancreatic cancer.
- 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.