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; 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 Lynch; David G. Huntsman

doi:10.1158/1078-0432.CCR-05-0247

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. HammondBobbi 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 Lynch, David G. Huntsman

Department of Preventive Medicine

Research output: Contribution to journal › Article › peer-review

143 Scopus citations

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 language	English (US)
Pages (from-to)	5401-5409
Number of pages	9
Journal	Clinical Cancer Research
Volume	11
Issue number	15
DOIs	https://doi.org/10.1158/1078-0432.CCR-05-0247
State	Published - Aug 1 2005

All Science Journal Classification (ASJC) codes

Oncology
Cancer Research

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Suriano, G., Yew, S., Ferreira, P., Senz, J., Kaurah, P., Ford, J. M., Longacre, T. A., Norton, J. A., Chun, N., Young, S., Oliveira, M. J., MacGillivray, B., Rao, A., Sears, D., Jackson, C. E., Boyd, J., Yee, C., Deters, C., Pai, G. S., ... Huntsman, D. G. (2005). Characterization of a recurrent germ line mutation of the E-cadherin gene: Implications for genetic testing and clinical management. Clinical Cancer Research, 11(15), 5401-5409. https://doi.org/10.1158/1078-0432.CCR-05-0247

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, H & 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

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title = "Characterization of a recurrent germ line mutation of the E-cadherin gene: Implications for genetic testing and clinical management",

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 ",

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

year = "2005",

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doi = "10.1158/1078-0432.CCR-05-0247",

language = "English (US)",

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pages = "5401--5409",

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TY - JOUR

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

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

AB - 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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VL - 11

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JF - Clinical Cancer Research

SN - 1078-0432

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ER -

Characterization of a recurrent germ line mutation of the E-cadherin gene: Implications for genetic testing and clinical management

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