PPM - Assessment for and Management of Lynch Syndrome-Checklist

Checklist
Pdf Summary
This document provides a checklist for assessing and managing Lynch Syndrome, a genetic condition associated with an increased risk of cancer. The checklist includes the following items:<br /><br />1. Document personal medical, surgical, and cancer history.<br />2. Document a three-generation family pedigree, including cancer history and prior genetic testing in family members.<br />3. Document any prior MSI/IHC tumor testing, including BRAF V600E if indicated.<br />4. Document the recommendation for MSI/IHC tumor testing as an initial assessment if not previously performed.<br />5. Document that germline testing of MMR genes was performed or recommended.<br />6. Review current laws regarding genetic discrimination and privacy, including the Genetic Information and Nondiscrimination Act (GINA).<br />7. If a pathogenic/likely pathogenic variant is found, discuss the inheritance pattern, possible cancer risk to relatives, and options for cascade testing.<br />8. If a variant of uncertain significance (VUS) is identified, discuss how variant follow-up will be performed, including laboratory reclassification programs, and how the patient will be notified of any updated interpretation.<br />9. If germline testing was negative, document the assessment of the need for somatic tumor testing for the identification of two pathogenic variants.<br />10. Document the review of gene-specific colon cancer surveillance guidelines and a recommendation for colectomy only if adenocarcinoma is diagnosed.<br />11. Document education on signs and symptoms of endometrial and ovarian cancer, limitations of gynecologic cancer screening, the option for endometrial biopsy every 1-2 years, and the option for risk-reducing bilateral salpingo-oophorectomy with or without total hysterectomy.<br />12. Document the review of gene-specific screening recommendations for urothelial cancer, gastric and small bowel cancer, pancreatic cancer, prostate cancer, and skin cancer.<br />13. Document that educational materials were provided and/or the patient was referred to support groups.<br />14. Document counseling in patients of reproductive age that biallelic pathogenic/likely pathogenic variants in MMR genes are associated with constitutional MMR deficiency, risks and benefits of prenatal diagnosis, and options for assisted reproductive technologies.
Keywords
Lynch Syndrome
genetic condition
cancer risk
genetic testing
MSI/IHC tumor testing
MMR genes
pathogenic variant
cascade testing
endometrial cancer
ovarian cancer