No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation

Gut

Volumn 58, Issue 1, 2009, Pages 154-156

  Brosens, L A A ^a   Van Hattem, W A ^a,b   Kools, M C E ^a   Ezendam, C ^a   Morsink, F H ^a   De Leng, W W J ^a   Giardiello, F M ^c   Offerhaus, G J A ^a,b,c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; SMAD4 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; BMPR1A PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1; PROTEIN SERINE THREONINE KINASE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR; UNCLASSIFIED DRUG;

COLORECTAL CANCER; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; JUVENILE POLYP; LETTER; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; COLON POLYPOSIS; GENETICS; MUTATION; NOTE;

ADENOMATOUS POLYPOSIS COLI; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; GERM-LINE MUTATION; HUMANS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SMAD4 PROTEIN;

EID: 58249092871     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gut.2008.161232     Document Type: Letter

References (16)

1. Brosens LA, van Hattem A, Hylind LM, et al. Risk of colorectal cancer in juvenile polyposis. Gut 2007; 56:965-7.
2. van Hattem WA, Brosens LA, de Leng WW, et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 2008; 57:623-7.
3. Howe JR, Sayed MG, Ahmed AF, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet 2004; 41:484-91.
4. Bevan S, Woodford-Richens K, Rozen P, et al. Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. Gut 1999; 45:406-8.
5. Roth S, Sistonen P, Salovaara R, et al. SMAD genes in juvenile polyposis. Genes Chromosomes Cancer 1999; 26:54-61.
6. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363:852-9.
7. Eng C, Ji H. Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. Am J Hum Genet 1998; 62:1020-2.
8. Woodford-Richens KL, Halford S, Rowan A, et al. CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. Br J Cancer 2001; 84:1314-6.
9. Grady WM, Myeroff LL, Swinler SE, et al. Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. Cancer Res 1999; 59:320-4.
10. Lu SL, Kawabata M, Imamura T, et al. HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet 1998; 19:17-8.
11. Bhowmick NA, Chytil A, Plieth D, et al. TGF-beta signaling in fibroblasts modulates the oncogenic potential of adjacent epithelia. Science 2004; 303:848-51.
12. Munoz NM, Upton M, Rojas A, et al. Transforming growth factor beta receptor type II inactivation induces the malignant transformation of intestinal neoplasms initiated by Apc mutation. Cancer Res 2006; 66:9837-44.
13. Mizuguchi T, ColIod-Beroud G, Akiyama T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36:855-60.
14. Akhurst RJ. TGF beta signaling in health and disease. Nat Genet 2004; 36:790-2.
15. Shin KH, Park YJ, Park JG. Mutational analysis of the transforming growth factor beta receptor type II gene in hereditary nonpolyposis colorectal cancer and early-onset colorectal cancer patients. Clin Cancer Res 2000; 6:536-40.
16. Verma L, Porter TR, Richards FM, et al. Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin ICDH1] genes in early onset and familial colorectal cancer. J Med Genet 2001; 38:e7.