Patient population | Intervention(s) that may be appropriate |
Risk reduction |
All individuals | - Increased CRC surveillance (early initiation and increased frequency of colonoscopy)
- Possible aspirin chemoprevention after discussion of risks and uncertain benefit
- Surveillance upper endoscopy with visualization of the duodenum
- Helicobacter pylori testing and treatment if positive
- Possible screening urinalysis
- Possible annual skin examination
- Preconception counseling; some may opt for alternative reproductive technologies (donor gametes, IVF with PGT)
|
Females (in addition to surveillance and interventions for all individuals above) | - Education regarding symptoms of endometrial and ovarian cancer
- Discussion of hysterectomy and rrBSO, typically done after childbearing is complete and/or at the time of CRC resection
- Discussion of transvaginal ultrasound, endometrial biopsy, and CA-125 testing for those who have not undergone hysterectomy and rrBSO
- Hormonal chemoprevention for those who are premenopausal and have not undergone hysterectomy and rrBSO
|
Males (in addition to surveillance and interventions for all individuals above) | - In MSH2 and MSH6 carriers, discussion of prostate cancer screening by prostate-specific antigen test at age 40 and follow-up in a high-risk cancer screening clinic
|
Family members |
First- and second-degree relatives | - Genetic counseling and consideration of testing for adult at-risk relatives
- Cascade testing of their relatives if appropriate
|
Cancer management |
Colorectal | - More extensive surgery
- Possible use of cancer immunotherapy (eg, PD-1 inhibitor) as second-line option
|
Endometrial cancer | - Management as for the general population
- Possible use of cancer immunotherapy (eg, PD-1 inhibitor) as second-line option
|
Other cancers | - Management as for the general population
- Possible use of cancer immunotherapy (eg, PD-1 inhibitor) as second-line option
|