Characterization of a recurrent germ line mutation of the E-cadherin gene

Implications for genetic testing and clinical management

Gianpaolo Suriano, Sandie Yew, Paulo Ferreira, Janine Senz, Pardeep Kaurah, James M. Ford, Teri A. Longacre, Jeffrey A. Norton, Nicki Chun, Sean Young, Maria J. Oliveira, Barbara MacGillivray, Arundhati Rao, Dawn Sears, Charles E. Jackson, Jeff Boyd, Cindy Yee, Carolyn Deters, G. Shashidhar Pai, Lyn S. Hammond & 17 others Bobbi J. McGivern, Diane Medgyesy, Denise Sartz, Banu Arun, Brant K. Oelschlager, Mellisa P. Upton, Whitney Neufeld-Kaiser, Orlando E. Silva, Talia R. Donenberg, David A. Kooby, Shobha Sharma, Björn Anders Jonsson, Henrik Gronberg, Steve Gallinger, Raquel Seruca, Henry T. Lynch, David G. Huntsman

Research output: Contribution to journalArticle

131 Citations (Scopus)

Abstract

Purpose: To identify germ line CDH1 mutations in hereditary diffuse gastric cancer (HDGC) families and develop guidelines for management of at risk individuals. Experimental Design: We ascertained 31 HDGC previously unreported families, including 10 isolated early-onset diffuse gastric cancer (DGC) cases. Screening for CDH1 germ line mutations was done by denaturing high-performance liquid chromatography and automated DNA sequencing. Results: We identified eight inactivating and one missense CDH1 germ line mutation. The mis-sense mutation conferred in vitro loss of protein function. Two families had the previously described 1003C>T nonsense mutation. Haplotype analysis revealed this to be a recurrent and not a founder mutation. Thirty-six percent (5 of 14) of the families with a documented DGC diagnosed before the age of 50 and other cases of gastric cancer carried CDH1 germ line mutations. Two of 10 isolated cases of DGC in individuals ages T mutation carriers. Conclusions: In addition to families with a strong history of early-onset DGC, CDH1 mutation screening should be offered to isolated cases of DGC in individuals ages

Original languageEnglish
Pages (from-to)5401-5409
Number of pages9
JournalClinical Cancer Research
Volume11
Issue number15
DOIs
StatePublished - Aug 1 2005

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Germ-Line Mutation
Genetic Testing
Cadherins
Stomach Neoplasms
Genes
Mutation
Nonsense Codon
Risk Management
DNA Sequence Analysis
Haplotypes
Research Design
High Pressure Liquid Chromatography
Guidelines

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Characterization of a recurrent germ line mutation of the E-cadherin gene : Implications for genetic testing and clinical management. / Suriano, Gianpaolo; Yew, Sandie; Ferreira, Paulo; Senz, Janine; Kaurah, Pardeep; Ford, James M.; Longacre, Teri A.; Norton, Jeffrey A.; Chun, Nicki; Young, Sean; Oliveira, Maria J.; MacGillivray, Barbara; Rao, Arundhati; Sears, Dawn; Jackson, Charles E.; Boyd, Jeff; Yee, Cindy; Deters, Carolyn; Pai, G. Shashidhar; Hammond, Lyn S.; McGivern, Bobbi J.; Medgyesy, Diane; Sartz, Denise; Arun, Banu; Oelschlager, Brant K.; Upton, Mellisa P.; Neufeld-Kaiser, Whitney; Silva, Orlando E.; Donenberg, Talia R.; Kooby, David A.; Sharma, Shobha; Jonsson, Björn Anders; Gronberg, Henrik; Gallinger, Steve; Seruca, Raquel; Lynch, Henry T.; Huntsman, David G.

In: Clinical Cancer Research, Vol. 11, No. 15, 01.08.2005, p. 5401-5409.

Research output: Contribution to journalArticle

Suriano, G, Yew, S, Ferreira, P, Senz, J, Kaurah, P, Ford, JM, Longacre, TA, Norton, JA, Chun, N, Young, S, Oliveira, MJ, MacGillivray, B, Rao, A, Sears, D, Jackson, CE, Boyd, J, Yee, C, Deters, C, Pai, GS, Hammond, LS, McGivern, BJ, Medgyesy, D, Sartz, D, Arun, B, Oelschlager, BK, Upton, MP, Neufeld-Kaiser, W, Silva, OE, Donenberg, TR, Kooby, DA, Sharma, S, Jonsson, BA, Gronberg, H, Gallinger, S, Seruca, R, Lynch, HT & Huntsman, DG 2005, 'Characterization of a recurrent germ line mutation of the E-cadherin gene: Implications for genetic testing and clinical management', Clinical Cancer Research, vol. 11, no. 15, pp. 5401-5409. https://doi.org/10.1158/1078-0432.CCR-05-0247
Suriano, Gianpaolo ; Yew, Sandie ; Ferreira, Paulo ; Senz, Janine ; Kaurah, Pardeep ; Ford, James M. ; Longacre, Teri A. ; Norton, Jeffrey A. ; Chun, Nicki ; Young, Sean ; Oliveira, Maria J. ; MacGillivray, Barbara ; Rao, Arundhati ; Sears, Dawn ; Jackson, Charles E. ; Boyd, Jeff ; Yee, Cindy ; Deters, Carolyn ; Pai, G. Shashidhar ; Hammond, Lyn S. ; McGivern, Bobbi J. ; Medgyesy, Diane ; Sartz, Denise ; Arun, Banu ; Oelschlager, Brant K. ; Upton, Mellisa P. ; Neufeld-Kaiser, Whitney ; Silva, Orlando E. ; Donenberg, Talia R. ; Kooby, David A. ; Sharma, Shobha ; Jonsson, Björn Anders ; Gronberg, Henrik ; Gallinger, Steve ; Seruca, Raquel ; Lynch, Henry T. ; Huntsman, David G. / Characterization of a recurrent germ line mutation of the E-cadherin gene : Implications for genetic testing and clinical management. In: Clinical Cancer Research. 2005 ; Vol. 11, No. 15. pp. 5401-5409.
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T1 - Characterization of a recurrent germ line mutation of the E-cadherin gene

T2 - Implications for genetic testing and clinical management

AU - Suriano, Gianpaolo

AU - Yew, Sandie

AU - Ferreira, Paulo

AU - Senz, Janine

AU - Kaurah, Pardeep

AU - Ford, James M.

AU - Longacre, Teri A.

AU - Norton, Jeffrey A.

AU - Chun, Nicki

AU - Young, Sean

AU - Oliveira, Maria J.

AU - MacGillivray, Barbara

AU - Rao, Arundhati

AU - Sears, Dawn

AU - Jackson, Charles E.

AU - Boyd, Jeff

AU - Yee, Cindy

AU - Deters, Carolyn

AU - Pai, G. Shashidhar

AU - Hammond, Lyn S.

AU - McGivern, Bobbi J.

AU - Medgyesy, Diane

AU - Sartz, Denise

AU - Arun, Banu

AU - Oelschlager, Brant K.

AU - Upton, Mellisa P.

AU - Neufeld-Kaiser, Whitney

AU - Silva, Orlando E.

AU - Donenberg, Talia R.

AU - Kooby, David A.

AU - Sharma, Shobha

AU - Jonsson, Björn Anders

AU - Gronberg, Henrik

AU - Gallinger, Steve

AU - Seruca, Raquel

AU - Lynch, Henry T.

AU - Huntsman, David G.

PY - 2005/8/1

Y1 - 2005/8/1

N2 - Purpose: To identify germ line CDH1 mutations in hereditary diffuse gastric cancer (HDGC) families and develop guidelines for management of at risk individuals. Experimental Design: We ascertained 31 HDGC previously unreported families, including 10 isolated early-onset diffuse gastric cancer (DGC) cases. Screening for CDH1 germ line mutations was done by denaturing high-performance liquid chromatography and automated DNA sequencing. Results: We identified eight inactivating and one missense CDH1 germ line mutation. The mis-sense mutation conferred in vitro loss of protein function. Two families had the previously described 1003C>T nonsense mutation. Haplotype analysis revealed this to be a recurrent and not a founder mutation. Thirty-six percent (5 of 14) of the families with a documented DGC diagnosed before the age of 50 and other cases of gastric cancer carried CDH1 germ line mutations. Two of 10 isolated cases of DGC in individuals ages T mutation carriers. Conclusions: In addition to families with a strong history of early-onset DGC, CDH1 mutation screening should be offered to isolated cases of DGC in individuals ages

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