NCCN Guidelines for people with mutations in PALB2, ATM, CHEK2, CDH1, NBN, NF1 BRIP1, RAD51C, and RAD51D
Breast Cancer Screening:
- Annual screening mammogram (consider 3D mammography) and annual MRI with contrast beginning at age 30, or earlier based on family breast cancer history for women with mutations in following genes:
- Annual screening mammogram (consider 3D mammography) and annual MRI with contrast beginning at age 40, or earlier based on family breast cancer history for women with mutations in following genes:
Breast Cancer Risk Management
- Discussing the option of risk-reducing mastectomy based of family history of breast cancer for women with mutations in:
Ovarian Cancer Risk Management
- Women with mutations in following genes should consider risk-reducing removal of ovaries and fallopian tubes at age 45-50:
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 ATM or PALB2 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 an ATM or PALB2 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 an ATM or PALB2 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.
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.