MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer.

BACKGROUND: Biallelic MUTYH exon 7 and 13 mutations are associated with a high frequency of somatic K-ras gene guanine to thymine transversion mutations at codon 12 position 1 in MUTYH-associated polyposis patients who have increased risk of colon cancer. The purpose of this study was to determine if a similar association exists between exon 7 and 13 MUTYH mutations and pancreatic cancer. METHODS: Genomic DNA samples from 140 patients with pancreatic cancer and 107 controls were sequenced and analyzed for mutations in each of MUTYH exons 7 and 13. RESULTS: Two patients with pancreatic cancer were identified as heterozygous for a MUTYH Y165C germline mutation. One pancreatic cancer patient was heterozygous for a G382D mutation and an additional patient was heterozygous for a novel missense mutation, L406M. No biallelic mutations were identified in pancreatic cancer or control subjects. CONCLUSION: Despite their association with somatic K-ras mutations and an increased risk of colorectal cancer in MUTYH-associated polyposis patients, MUTYH exon 7 and 13 mutations were not associated with pancreatic cancer in our cohort.