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- W232419040 abstract "The autosomal recessive polycystic kidney disease (ARPKD) gene, PKHD1, has been implicated in the genesis or growth of colorectal adenocarcinoma, as a high level of somatic mutations was found in colorectal tumor tissue. To determine whether carriers of a single PKHD1 mutation are at increased risk of colorectal carci- noma, we assessed the prevalence of the commonest European mutation, T36M. First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations. We then investigated two European cohorts with colorectal adenocarcinoma versus two control cohorts of similar age and gender. Screening for the most common PKHD1 mutation, T36M, we detected 15:3,603 (0.42%) controls versus 1:3,767 (0.027%) colorectal cancer individuals, indicating that heterozygous PKHD1 mutations are not ar isk factor and are protective (p = 0.0002). We also show that the carriage rate for PKHD1 mutations in the European population is higher than previous accepted at 3.2% (1:31 genomes)." @default.
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- W232419040 date "2011-01-01" @default.
- W232419040 modified "2023-09-24" @default.
- W232419040 title "Christopher J. WardYanhong WuRuth A. JohnsonJohn R. WoollardEric J. BergstralhMine S. Cicek • Jason BakebergSandro RossettiChristina M. HeyerGloria M. PetersenNoralene M. Lindor • Stephen N. ThibodeauPeter C. HarrisVicente E. TorresMarie C. HoganLisa A. Boardman" @default.
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- W232419040 hasPublicationYear "2011" @default.
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