Managing Patients with Hereditary Pancreatic Cancer

If PANEXIATM testing confirms the presence of a BRCA2 or PALB2 mutation, the following medical management options may help reduce cancer risk and may either delay the onset of cancer, detect cancer at an earlier, more treatable stage or even prevent it.*

Positive PALB2 Gene Mutation Result:

Increased Surveillance for Pancreatic Cancer in Mutation Carriers

  • There are no standardized guidelines for pancreatic cancer surveillance, but screening techniques such as MRI, CT, EUS, ERCP and MRCP may be considered.
  • Monitor and/or modify lifestyle risk factors, including smoking, alcohol, diabetes and pancreatitis.

Increased Surveillance for Breast Cancer in Mutation Carriers

  • There are no formal breast cancer surveillance recommendations for patients with a PALB2 mutation.  Due to the increased risk of breast cancer, one may consider following NCCN guidelines for similar risk patients.179,180 Surveillance could include initiating screening at younger ages, increased frequency of screening, and use of MRI or other modalities in addition to mammography, breast self-exams and clinical breast exams.

Positive BRCA2 Gene Mutation Results:

Increased Surveillance for Pancreatic Cancer in Mutation Carriers

  • There are no standardized guidelines for pancreatic cancer surveillance, but screening techniques such as MRI, CT, EUR, ERCP and MRCP may be considered.
  • Monitor and/or modify lifestyle risk factors, including smoking, alcohol, diabetes and pancreatitis.

Increased surveillance for Breast Cancer in Mutation Carriers

  • Monthly breast self-exams starting at age 18181
  • Annual or semiannual clinical breast exams starting at age 25182
  • Yearly mammography starting at age 25181,182
  • Yearly magnetic resonance imaging (MRI) starting at age 25 or individualized based on earliest case in the family181,183

Increased Surveillance for Ovarian Cancer in Mutation Carriers

  • Annual or semiannual transvaginal ultrasound181,182
  • Annual or semiannual blood test for CA125 beginning at age 25181,182
  • Annual pelvic exams

Risk Reducing Medications for Mutation Carriers

  • Tamoxifen use has been associated with a reduction of 53% in the risk of a second primary breast cancer in contralateral cancers184
  • Oral contraceptives, when taken for 6 or more years, have been associated with a reduction of up to 60% in the risk of ovarian cancer185

Prophylactic Surgery in Mutation Carriers

  • Prophylactic mastectomy reduces breast cancer risk by at least 90%186
  • Prophylactic oophorectomy reduces ovarian cancer risk by up to 96% and breast cancer risk by up to 68%187,188

* Any discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made based on consultation between each patient and his or her healthcare provider.