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.


CONCLUSIONS
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.
Smith
Lauren M
LM
School of Arts and Sciences, University of Pittsburgh, and University of Pittsburgh Cancer Institute, Pittsburgh, Pa., USA.
Sharif
Saima
S
Brand
Randall
R
Fink
Erin
E
Lamb
Janette
J
Whitcomb
David C
DC
D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002277:Carcinoma / Q000235:genetics*; D015331:Cohort Studies; D015179:Colorectal Neoplasms / Q000235:genetics; D045647:DNA Glycosylases / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D011905:Genes, ras; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010190:Pancreatic Neoplasms / Q000235:genetics*; D013577:Syndrome
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase