Gene: PMS2
Cancer Risks and Management (per NCCN version 3.2019):
Women:
Endometrial cancer risk: Elevated at 0%-15% – Consider risk-reducing hysterectomy.
Men and Women:
Colorectal cancer risk: Elevated at 12%-20% – Recommend colonoscopy every 1-2 years starting at age 20-25
Gastric cancer risk: Not well established – Consider upper endoscopy every 3-5 years beginning at age 40 for select PMS2 carriers (see NCCN for details).
Urothelial cancer risk: Not well established – Consider urinalysis annually starting at age 30-35 for PMS2 carriers with a family history of urothelial cancer.
Men:
Prostate cancer risk: Not well established – Manage same as general population.
Inheritance: Autosomal dominant, thus parents, full siblings, and children have a 50% risk for the gene mutation. If both parents have an PMS2 mutation, the child is at risk for autosomal recessive ’Constitutional mismatch repair deficiency’ (CMMRD) syndrome with earlier and higher cancer risks.
Family Testing: At-risk family members should consider genetic counseling and genetic testing. For adult-onset conditions, recommend waiting to perform genetic testing on minors are at least 18 years old.
Reproductive Considerations: Option for preimplantation genetic diagnosis (PGD) may be available to ensure future generations do not inherit the known gene mutation. PGD is a procedure available for certain gene mutations to screen the embryo prior to achievement of pregnancy.
Check out the full management guidelines by creating a FREE account at https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf and https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf