Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

M. G. Sayed, A. F. Ahmed, J. R. Ringold, M. E. Anderson, J. L. Bair, F. A. Mitros, Henry T. Lynch, S. T. Tinley, G. M. Petersen, F. M. Giardiello, B. Vogelstein, J. R. Howe

Research output: Contribution to journalArticle

127 Citations (Scopus)

Abstract

Background: Juvenile polyposis (JP) is an inherited condition predisposing to upper gastrointestinal (UGI) polyps and colorectal cancer. Two genes are known to predisose to JP, SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A). The object of this study was to determine the differences in phenotype of patients with SMAD4 or BMPR1A mutations (MUT+) compared with those without (MUT-). Methods: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. Products were then sequenced and analyzed for mutations. Medical record data were used to create a JP database, and statistical analysis was performed using Fisher's exact and unpaired t-tests. Results: Nine of 54 patients had germline SMAD4 mutations, 13 had BMPR1A mutations, and 32 had neither. There were no significant differences between SMAD4 + and BMPR1A + cases in terms of clinical factors examined, except for a family history of UGI involvement (P <.01). There was a higher prevalence of familial cases in MUT+ patients (P = 09), > 10 lower gastrointestinal polyps (P = .06), and frequency of family history of gastrointestinal cancer compared with MUT-patients (P = .01). Conclusions: Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.

Original languageEnglish
Pages (from-to)901-906
Number of pages6
JournalAnnals of Surgical Oncology
Volume9
Issue number9
StatePublished - Nov 2002

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Bone Morphogenetic Protein Receptors
Phenotype
Mutation
Gastrointestinal Neoplasms
Polyps
Germ-Line Mutation
Medical Records
Colorectal Neoplasms
Exons
Databases
Polymerase Chain Reaction
DNA
Genes

All Science Journal Classification (ASJC) codes

  • Surgery
  • Oncology

Cite this

Sayed, M. G., Ahmed, A. F., Ringold, J. R., Anderson, M. E., Bair, J. L., Mitros, F. A., ... Howe, J. R. (2002). Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Annals of Surgical Oncology, 9(9), 901-906.

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. / Sayed, M. G.; Ahmed, A. F.; Ringold, J. R.; Anderson, M. E.; Bair, J. L.; Mitros, F. A.; Lynch, Henry T.; Tinley, S. T.; Petersen, G. M.; Giardiello, F. M.; Vogelstein, B.; Howe, J. R.

In: Annals of Surgical Oncology, Vol. 9, No. 9, 11.2002, p. 901-906.

Research output: Contribution to journalArticle

Sayed, MG, Ahmed, AF, Ringold, JR, Anderson, ME, Bair, JL, Mitros, FA, Lynch, HT, Tinley, ST, Petersen, GM, Giardiello, FM, Vogelstein, B & Howe, JR 2002, 'Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis', Annals of Surgical Oncology, vol. 9, no. 9, pp. 901-906.
Sayed MG, Ahmed AF, Ringold JR, Anderson ME, Bair JL, Mitros FA et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Annals of Surgical Oncology. 2002 Nov;9(9):901-906.
Sayed, M. G. ; Ahmed, A. F. ; Ringold, J. R. ; Anderson, M. E. ; Bair, J. L. ; Mitros, F. A. ; Lynch, Henry T. ; Tinley, S. T. ; Petersen, G. M. ; Giardiello, F. M. ; Vogelstein, B. ; Howe, J. R. / Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. In: Annals of Surgical Oncology. 2002 ; Vol. 9, No. 9. pp. 901-906.
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abstract = "Background: Juvenile polyposis (JP) is an inherited condition predisposing to upper gastrointestinal (UGI) polyps and colorectal cancer. Two genes are known to predisose to JP, SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A). The object of this study was to determine the differences in phenotype of patients with SMAD4 or BMPR1A mutations (MUT+) compared with those without (MUT-). Methods: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. Products were then sequenced and analyzed for mutations. Medical record data were used to create a JP database, and statistical analysis was performed using Fisher's exact and unpaired t-tests. Results: Nine of 54 patients had germline SMAD4 mutations, 13 had BMPR1A mutations, and 32 had neither. There were no significant differences between SMAD4 + and BMPR1A + cases in terms of clinical factors examined, except for a family history of UGI involvement (P <.01). There was a higher prevalence of familial cases in MUT+ patients (P = 09), > 10 lower gastrointestinal polyps (P = .06), and frequency of family history of gastrointestinal cancer compared with MUT-patients (P = .01). Conclusions: Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.",
author = "Sayed, {M. G.} and Ahmed, {A. F.} and Ringold, {J. R.} and Anderson, {M. E.} and Bair, {J. L.} and Mitros, {F. A.} and Lynch, {Henry T.} and Tinley, {S. T.} and Petersen, {G. M.} and Giardiello, {F. M.} and B. Vogelstein and Howe, {J. R.}",
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AU - Sayed, M. G.

AU - Ahmed, A. F.

AU - Ringold, J. R.

AU - Anderson, M. E.

AU - Bair, J. L.

AU - Mitros, F. A.

AU - Lynch, Henry T.

AU - Tinley, S. T.

AU - Petersen, G. M.

AU - Giardiello, F. M.

AU - Vogelstein, B.

AU - Howe, J. R.

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N2 - Background: Juvenile polyposis (JP) is an inherited condition predisposing to upper gastrointestinal (UGI) polyps and colorectal cancer. Two genes are known to predisose to JP, SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A). The object of this study was to determine the differences in phenotype of patients with SMAD4 or BMPR1A mutations (MUT+) compared with those without (MUT-). Methods: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. Products were then sequenced and analyzed for mutations. Medical record data were used to create a JP database, and statistical analysis was performed using Fisher's exact and unpaired t-tests. Results: Nine of 54 patients had germline SMAD4 mutations, 13 had BMPR1A mutations, and 32 had neither. There were no significant differences between SMAD4 + and BMPR1A + cases in terms of clinical factors examined, except for a family history of UGI involvement (P <.01). There was a higher prevalence of familial cases in MUT+ patients (P = 09), > 10 lower gastrointestinal polyps (P = .06), and frequency of family history of gastrointestinal cancer compared with MUT-patients (P = .01). Conclusions: Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.

AB - Background: Juvenile polyposis (JP) is an inherited condition predisposing to upper gastrointestinal (UGI) polyps and colorectal cancer. Two genes are known to predisose to JP, SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A). The object of this study was to determine the differences in phenotype of patients with SMAD4 or BMPR1A mutations (MUT+) compared with those without (MUT-). Methods: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. Products were then sequenced and analyzed for mutations. Medical record data were used to create a JP database, and statistical analysis was performed using Fisher's exact and unpaired t-tests. Results: Nine of 54 patients had germline SMAD4 mutations, 13 had BMPR1A mutations, and 32 had neither. There were no significant differences between SMAD4 + and BMPR1A + cases in terms of clinical factors examined, except for a family history of UGI involvement (P <.01). There was a higher prevalence of familial cases in MUT+ patients (P = 09), > 10 lower gastrointestinal polyps (P = .06), and frequency of family history of gastrointestinal cancer compared with MUT-patients (P = .01). Conclusions: Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.

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