Germline PKHD1 mutations are protective against colorectal cancer.
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ABSTRACT:
SUBMITTER: Ward CJ
PROVIDER: S-EPMC3102497 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Publications
Germline PKHD1 mutations are protective against colorectal cancer.
Ward Christopher J CJ Wu Yanhong Y Johnson Ruth A RA Woollard John R JR Bergstralh Eric J EJ Cicek Mine S MS Bakeberg Jason J Rossetti Sandro S Heyer Christina M CM Petersen Gloria M GM Lindor Noralene M NM Thibodeau Stephen N SN Harris Peter C PC Torres Vicente E VE Hogan Marie C MC Boardman Lisa A LA
Human genetics 20110128 3
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 mutation ...[more]
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