Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with 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
• Other Authors: National Cancer Institute, Pelotonia
• Format: Article in Journal/Newspaper
• Language: English
• Published: BMJ 2019
• Subjects: Iceland
• Online Access: http://dx.doi.org/10.1136/jmedgenet-2018-105698; https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2018-105698

Background Patients with colorectal cancer (CRC) with mismatch repair-deficient (dMMR) tumours without MLH1 methylation or germline MMR pathogenic variants (PV) were previously thought to have Lynch syndrome (LS). It is now appreciated that they can have double somatic (DS) MMR PVs. We explored the...