Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

Conclusions A substantial proportion of CRCs with solitary loss of PMS2 expression are associated with a deleterious MLH1 germline mutation supporting the screening for MLH1 in individuals with tumours of this immunophenotype, when no PMS2 mutation has been identified.

http://bmjopen.bmj.com/cgi/content/short/6/2/e010293?rss=1

Source: BMJ Open - February 19, 2016 Category: Journals (General) Authors: Rosty, C., Clendenning, M., Walsh, M. D., Eriksen, S. V., Southey, M. C., Winship, I. M., Macrae, F. A., Boussioutas, A., Poplawski, N. K., Parry, S., Arnold, J., Young, J. P., Casey, G., Haile, R. W., Gallinger, S., Le Marchand, L., Newcomb, P. A., Potte Tags: Open access, Gastroenterology and hepatology, Genetics and genomics, Pathology Research Source Type: research