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Questionnaire May Help Detect Hereditary CRC
Clin Gastroenterol Hepatol; 2018 Jan; Luba, et al
A self-administered questionnaire may detect Lynch syndrome in patients at genetic risk for the disease, according to a study that tested the assessment tool in community practice.
- Lynch syndrome, the most common form of hereditary colorectal cancer, results from mutations in EPCAM and DNA mismatch repair genes, including MLH1, MSH 2, MSH6, and PMS2.
- Although the cancer affects about 1 million Americans, it is woefully underdiagnosed.
- Investigators tested a patient-completed version of PREMM1,2,6 by having >3,000 patients fill out the questionnaire and offering genetic testing to those at high risk—rated as a score of 5% or above.
- 177 patients had elevated scores, of which 146 patients had genetic testing; 3 of these tested patients had Lynch syndrome (2.1%).
- All the clinicians who participated in the study were satisfied with the use of PREMM in their practice and said they would continue to use it.
Citation:
Luba DG, DiSario JA, Rock C, et al. Community practice implementation of a self-administered version of PREMM1,2,6 to assess risk for Lynch Syndrome. Clin Gastroenterol Hepatol. 2018;16:49-58. doi:10.1016/j.cgh.2017.06.038.