2018 ASCO: Genomic Study Finds Lynch Syndrome Is Common Among Patients With MSI-High Tumors

By The ASCO Post
Posted: 6/2/2018 12:27:25 PM
Last Updated: 6/2/2018 12:58:14 PM

Key Points

Inherited mutations in Lynch syndrome–associated genes were found in 16% of people with MSI-H tumors, compared to 1.9% of those with MSI-I tumors and only 0.3% of those with MSS tumors.
Nearly 50% of patients with MSI-H/MSI-I tumors who were identified as having Lynch syndrome had cancer types not previously, or rarely, linked to the syndrome, including mesothelioma, sarcoma, adrenocortical cancer, melanoma, prostate cancer, and ovarian germ cell cancer.
57 MSI-I/MSI-H tumor samples were also tested for abnormal DNA repair proteins—and MMR-D was found in nearly all (98.3%) of those tumors.