HNPCC Lab

The HNPCC Lab at Department of Oncology, Lund University, provides laboratory analysis for suspected hereditary colorectal cancer, including hereditary nonpolyposis colorectal cancer (HNPCC, the polyposis syndromes familial adenomatous polyposis (FAP) and mutY associated polyposis (MAP). The service is performed in collaboration with the Oncogenetic clinic at Skane University Hospital.

In HNPCC diagnostics primary screening for mismatch repair defects is performed using immunohistochemical staining for MLH1, PMS2, MSH2 and MSH6 in combination with microsatellite instability analysis.

Current mutation detection technologies make use of Illumina Genome Analyzer single-read sequencing for the mismatch repair genes MLH1, MSH2 and MSH6, the APC gene and the MUTYH gene from blood-DNA, for detection of germline base substitutions, deletions and insertions in both coding and noncoding/nonrepetitive regions. This is complemented with multiplex-ligation dependent probe amplification (MLPA) analysis for detection of larger genomic deletions and duplications. All results are communicated to the patients through genetic counseling sessions at the Oncogenetic clinic. The HNPCC Lab also participates in the EMQN annual quality evaluation rounds for HNPCC diagnostics.