Romy Walker, Khalid Mahmood, Jihoon E Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T Harris, Alex Henderson, Megan Higgins, John L Hopper, Ryan A Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O'Connell, Nicholas Pachter, Bernard J Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K Win, Michael D Walsh, Finlay A Macrae, Mark A Jenkins, Christophe Rosty, Ingrid M Winship, Daniel D Buchanan
Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (SLS). SLS cases (n = 135) were recruited from Family Cancer Clinics across Australia and New Zealand. Targeted panel sequencing was performed on tumor (n = 137; 80×CRCs, 33×ECs and 24xSSTs) and matched blood-derived DNA to assess for microsatellite instability status, tumor mutation burden, COSMIC tumor mutational signatures and to identify germline and somatic MMR gene variants...
April 26, 2023: Journal of Translational Medicine