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: 1 Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA. 2 Internal Medicine, Stanford University, Stanford, California, USA. 3 Cancer Biology and Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA. 4 Pathology, Landspitali-National University Hospital, Reykjavik, Iceland. 5 University of Iceland, Reykjavik, Iceland. 6 Pathology, Ohio State University Wexner Medical Center, Columbus, Ohio, USA. 7 deCODE Genetics, Reykjavik, Iceland. 8 Laboratory Medicine, University of Washington, Seattle, Washington, USA. # Contributed equally
• Format: Article in Journal/Newspaper
• Language: English
• Published: BMJ Publishing Group 2019
• Subjects: DNA repair system; Lynch-like syndrome; somatic mutation; tumour testing; Ristilkrabbamein; Colorectal Neoplasms; Hereditary Nonpolyposis; Lynch; Iceland
• Online Access: http://hdl.handle.net/2336/621035; https://doi.org/10.1136/jmedgenet-2018-105698

To access publisher's full text version of this article click on the hyperlink below 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 (...