Clinical Characteristics of Colorectal Cancer Patients with Double Somatic Mismatch Repair Mutations Compared to Lynch Syndrome

• Published in: Journal of Medical Genetics
• Main Authors: Pearlman, Rachel, Haraldsdottir, Sigurdis, de la Chapelle, Albert, Jonasson, Jon G., Liyanarachchi, Sandya, Frankel, Wendy L., Rafnar, Thorunn, Stefansson, Kari, Pritchard, Colin C., Hampel, Heather
• Format: Text
• Language: English
• Published: 2019
• Subjects: Article; Lynch; Iceland
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748629/; http://www.ncbi.nlm.nih.gov/pubmed/30877237; https://doi.org/10.1136/jmedgenet-2018-105698

BACKGROUND: Colorectal cancer (CRC) patients with mismatch repair-deficient (dMMR) tumors without MLH1 methylation or germline MMR pathogenic variants (PVs) were previously thought to have Lynch syndrome (LS). It’s now appreciated that they can have double somatic (DS) MMR PVs. We explored clinical...