Frequent loss of SMAD4/DPC4 protein in colorectal cancers

Egle Mcdonald; R. Salovaara; S. Roth; A. Loukola; V. Launonen; P. Sistonen; E. Avizienyte; P. Kristo; H. Järvinen; S. Souchelnytskyi; M. Sarlomo-Rikala; Lauri A. Aaltonen

doi:10.1136/gut.51.1.56

Frequent loss of SMAD4/DPC4 protein in colorectal cancers

Egle Mcdonald, R. Salovaara, S. Roth, A. Loukola, V. Launonen, P. Sistonen, E. Avizienyte, P. Kristo, H. Järvinen, S. Souchelnytskyi, M. Sarlomo-Rikala, Lauri A. Aaltonen

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

Abstract

Background and aims: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in this area. One of these, DPC4 (deleted in pancreatic cancer 4, also known as SMAD4), is mutated in a minor subset of colorectal carcinomas as well as in germlines of humans predisposed to colon tumours. Patients and methods: The involvement of SMAD4 in sporadic colorectal neoplasia was evaluated by immunohistochemistry in 53 unselected cases and 27 cases displaying microsatellite instability. Results: SMAD4 expression was absent in 20 of 53 (38%) unselected colorectal carcinomas, and reduced in another 15 (28%) cases. However, 26 of 27 cancers displaying microsatellite instability and TGF-βIIR mutations were positive for SMAD4 immunostaining. Conclusions: Loss of SMAD4 expression may play a more prominent role in colon cancer than anticipated based on genetic evidence, but not in mutator phenotype tumours.

Original language	English
Pages (from-to)	56-59
Number of pages	3
Journal	Gut
Volume	51
Issue number	1
DOIs	https://doi.org/10.1136/gut.51.1.56
Publication status	Published - 2002

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@article{f948ec15169945fcbfce4d90408af69c,

title = "Frequent loss of SMAD4/DPC4 protein in colorectal cancers",

abstract = "Background and aims: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in this area. One of these, DPC4 (deleted in pancreatic cancer 4, also known as SMAD4), is mutated in a minor subset of colorectal carcinomas as well as in germlines of humans predisposed to colon tumours. Patients and methods: The involvement of SMAD4 in sporadic colorectal neoplasia was evaluated by immunohistochemistry in 53 unselected cases and 27 cases displaying microsatellite instability. Results: SMAD4 expression was absent in 20 of 53 (38\%) unselected colorectal carcinomas, and reduced in another 15 (28\%) cases. However, 26 of 27 cancers displaying microsatellite instability and TGF-βIIR mutations were positive for SMAD4 immunostaining. Conclusions: Loss of SMAD4 expression may play a more prominent role in colon cancer than anticipated based on genetic evidence, but not in mutator phenotype tumours.",

author = "Egle Mcdonald and R. Salovaara and S. Roth and A. Loukola and V. Launonen and P. Sistonen and E. Avizienyte and P. Kristo and H. J{\"a}rvinen and S. Souchelnytskyi and M. Sarlomo-Rikala and Aaltonen, \{Lauri A.\}",

year = "2002",

doi = "10.1136/gut.51.1.56",

language = "English",

volume = "51",

pages = "56--59",

journal = "Gut",

issn = "0017-5749",

publisher = "BMJ ",

number = "1",

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TY - JOUR

T1 - Frequent loss of SMAD4/DPC4 protein in colorectal cancers

AU - Mcdonald, Egle

AU - Salovaara, R.

AU - Roth, S.

AU - Loukola, A.

AU - Launonen, V.

AU - Sistonen, P.

AU - Avizienyte, E.

AU - Kristo, P.

AU - Järvinen, H.

AU - Souchelnytskyi, S.

AU - Sarlomo-Rikala, M.

AU - Aaltonen, Lauri A.

PY - 2002

Y1 - 2002

N2 - Background and aims: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in this area. One of these, DPC4 (deleted in pancreatic cancer 4, also known as SMAD4), is mutated in a minor subset of colorectal carcinomas as well as in germlines of humans predisposed to colon tumours. Patients and methods: The involvement of SMAD4 in sporadic colorectal neoplasia was evaluated by immunohistochemistry in 53 unselected cases and 27 cases displaying microsatellite instability. Results: SMAD4 expression was absent in 20 of 53 (38%) unselected colorectal carcinomas, and reduced in another 15 (28%) cases. However, 26 of 27 cancers displaying microsatellite instability and TGF-βIIR mutations were positive for SMAD4 immunostaining. Conclusions: Loss of SMAD4 expression may play a more prominent role in colon cancer than anticipated based on genetic evidence, but not in mutator phenotype tumours.

AB - Background and aims: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in this area. One of these, DPC4 (deleted in pancreatic cancer 4, also known as SMAD4), is mutated in a minor subset of colorectal carcinomas as well as in germlines of humans predisposed to colon tumours. Patients and methods: The involvement of SMAD4 in sporadic colorectal neoplasia was evaluated by immunohistochemistry in 53 unselected cases and 27 cases displaying microsatellite instability. Results: SMAD4 expression was absent in 20 of 53 (38%) unselected colorectal carcinomas, and reduced in another 15 (28%) cases. However, 26 of 27 cancers displaying microsatellite instability and TGF-βIIR mutations were positive for SMAD4 immunostaining. Conclusions: Loss of SMAD4 expression may play a more prominent role in colon cancer than anticipated based on genetic evidence, but not in mutator phenotype tumours.

UR - https://www.scopus.com/pages/publications/0036293981

U2 - 10.1136/gut.51.1.56

DO - 10.1136/gut.51.1.56

M3 - Article

SN - 0017-5749

VL - 51

SP - 56

EP - 59

JO - Gut

JF - Gut

IS - 1

ER -

Frequent loss of SMAD4/DPC4 protein in colorectal cancers

Abstract

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