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Germline PKHD1 mutations are protective against colorectal cancer.
Germline PKHD1 mutations are protective against colorectal cancer.
- Source :
- Human Genetics; Mar2011, Vol. 129 Issue 3, p345-349, 5p, 1 Chart
- Publication Year :
- 2011
-
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 carcinoma, 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 a risk 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). [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03406717
- Volume :
- 129
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 57964280
- Full Text :
- https://doi.org/10.1007/s00439-011-0950-8