Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease

Gastroenterology

Volumn 141, Issue 6, 2011, Pages

  Janssen, Manoe J ^a   Waanders, Esmé ^a,b   Te Morsche, René H M ^a   Xing, Ruoyu ^a   Dijkman, Henry B P M ^c   Woudenberg, Jannes ^a   Drenth, Joost P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cholangiocytes; Genetic Analysis; Liver Disease; Pathogenesis

Indexed keywords

CYSTINE; DNA; HEPATOCYSTIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FEMALE; GENE EXPRESSION; GENOME; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; LAPAROSCOPY; LASER MICRODISSECTION; LIVER POLYCYSTIC DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION;

EID: 81855175354     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2011.08.004     Document Type: Article

References (38)

1. L. Van Keimpema, D.B. de Koning, and H.B. van Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases Liver Int 31 2011 92 98
2. J.P.H. Drenth, R.H. te Morsche, and R. Smink Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease Nat Genet 33 2003 345 347 (Pubitemid 36278850)
3. A. Li, S. Davila, and L. Furu Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease Am J Hum Genet 72 2003 691 703 (Pubitemid 36255967)
4. S. Davila, L. Furu, and A.G. Gharavi Mutations in SEC63 cause autosomal dominant polycystic liver disease Nat Genet 36 2004 575 577 (Pubitemid 38715981)
5. J.P.H. Drenth, J. Martina, and R.H.M.T. Morsche Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease Gastroenterology 126 2004 A675
6. M.J. Janssen, E. Waanders, and J. Woudenberg Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease J Hepatol 52 2010 432 440
7. V.J. Desmet Congenital diseases of intrahepatic bile-ductsvariations on the theme ductal plate malformation Hepatology 16 1992 1069 1083
8. G.T. Everson, M.R. Taylor, and R.B. Doctor Polycystic disease of the liver Hepatology 40 2004 774 782 (Pubitemid 39288107)
9. E. Waanders, H. Venselaar, and R.H. te Morsche Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63 Clin Genet 78 2010 47 56
10. E. Waanders, H.J. Croes, and C.N. Maass Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p Histochem Cell Biol 129 2008 301 310
11. A.G. Knudson Mutation and cancer: statistical study of retinoblastoma Natl Acad Sci U S A 68 1971 820 823
12. L. Van Keimpema, J.P. Ruurda, and M.F. Ernst Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5% J Gastrointest Surg 12 2008 477 482
13. M.C.R.F. Van Dijk, P.D.M. Rombout, and H.B.P.M. Dijkman Improved resolution by mounting of tissue sections for laser microdissection Mol Pathol 56 2003 240 243 (Pubitemid 36981159)
14. R.G. Newcombe Two-sided confidence intervals for the single proportion: comparison of seven methods Stat Med 17 1998 857 872 (Pubitemid 28185165)
15. E. Waanders, R.H. te Morsche, and R.A. de Man Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease Hum Mutat 27 2006 830
16. P.C. Ng, and S. Henikoff Predicting the effects of amino acid substitutions on protein function Annu Rev Genomics Hum Genet 7 2006 61 80 (Pubitemid 44627922)
17. H. Venselaar, T.A. Te Beek, and R.K. Kuipers Protein structure analysis of mutations causing inheritable diseases An e-Science approach with life scientist friendly interfaces BMC Bioinformatics 11 2010 548
18. C. Hornsby, K.M. Page, and I. Tomlinson The in vivo rate of somatic adenomatous polyposis coli mutation Am J Pathol 172 2008 1062 1068 (Pubitemid 351520002)
19. T. Reya, S.J. Morrison, and M.F. Clarke Stem cells, cancer, and cancer stem cells Nature 414 2001 105 111 (Pubitemid 33041634)
20. C. Thirlwell, O.C. Will, and E. Domingo Clonality assessment and clonal ordering of individual neoplastic crypts shows polyclonality of colorectal adenomas Gastroenterology 138 2010 1441 1454 1454
21. S.J. Leedham, A.T. Thliveris, and R.B. Halberg Gastrointestinal stem cells and cancer: bridging the molecular gap Stem Cell Rev 1 2005 233 241
22. J.M. Puck, and S.E. Straus Somatic mutationsnot just for cancer anymore N Engl J Med 351 2004 1388 1390 (Pubitemid 39288164)
23. P. Brouillard, L.M. Boon, and J.B. Mulliken Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (" glomangiomas") Am J Hum Genet 70 2002 866 874 (Pubitemid 34259303)
24. A.L. Akers, E. Johnson, and G.K. Steinberg Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis Hum Mol Genet 18 2009 919 930
25. F. Qian, T.J. Watnick, and L.F. Onuchic The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I Cell 87 1996 979 987 (Pubitemid 26427982)
26. F. Qian, and G.G. Germino "Mistakes happen": somatic mutation and disease Am J Hum Genet 61 1997 1000 1005 (Pubitemid 27492306)
27. S.T. Reeders Multilocus polycystic disease Nat Genet 1 1992 235 237
28. J.P. Drenth, M. Chrispijn, and D.M. Nagorney Medical and surgical treatment options for polycystic liver disease Hepatology 52 2010 2223 2230
29. J.L. Brasier, and E.P. Henske Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis J Clin Invest 99 1997 194 199 (Pubitemid 27053988)
30. M. Koptides, R. Constantinides, and G. Kyriakides Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1 Hum Genet 103 1998 709 717 (Pubitemid 29020769)
31. M. Koptides, R. Mean, and K. Demetriou Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease Hum Mol Genet 9 2000 447 452 (Pubitemid 30098739)
32. T.J. Watnick, V.E. Torres, and M.A. Gandolph Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease Mol Cell 2 1998 247 251 (Pubitemid 128373650)
33. M. Koptides, C. Hadjimichael, and P. Koupepidou Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease Hum Mol Genet 8 1999 509 513 (Pubitemid 29097339)
34. Y. Pei, T. Watnick, and N. He Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease J Am Soc Nephrol 10 1999 1524 1529 (Pubitemid 29297527)
35. T.J. Watnick, N. He, and K.R. Wang Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations Nat Genet 25 2000 143 144 (Pubitemid 30394981)
36. W.D. Foulkes Inherited susceptibility to common cancers N Engl J Med 359 2008 2143 2153
37. S.V. Fedeles, X. Tian, and A.R. Gallagher A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation Nat Genet 43 2011 639 647
38. P.C. Harris, and V.E. Torres Polycystic kidney disease Annu Rev Med 60 2009 321 337