MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients

Linnea M. Baudhuin; Lewis R. Roberts; Felicity T.B. Enders; Russell L. Swanson; Teresa A. Mettler; Ileana Aderca; Linda M. Stadheim; W. Edward Highsmith

doi:10.1007/s00432-005-0056-6

MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients

Linnea M. Baudhuin, Lewis R. Roberts, Felicity T.B. Enders, Russell L. Swanson, Teresa A. Mettler, Ileana Aderca, Linda M. Stadheim, W. Edward Highsmith

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

11 Scopus citations

Abstract

Purpose: Production of reactive oxygen species (ROS) during chronic inflammation has been implicated in the progression of liver diseases and carcinogenesis. Subjects with inflammatory liver disease and one non-functional allele of the base excision repair gene, MYH, may be more susceptible to progression to cancer due to MYH haploinsufficiency in repairing oxidative damage caused by ROS. Here, we investigated the association of two common germline MYH mutations in patients with hepatocellular carcinoma (HCC) and cholangiocarcinoma. Methods: DNA from patients with HCC (n = 48) or cholangiocarcinoma (n = 84) compared to non-cancerous controls (n = 308) were genotyped for the Y165C and G382D mutations in MYH. Results: There was no significant difference in MYH mutation carrier status between patients with HCC (1/48), cholangiocarcinoma (3/84), and non-cancerous controls (4/308). Conclusions: Patients with HCC or cholangiocarcinoma do not have an increased incidence of monoallelic MYH mutations pre-disposing them to disease.

Original language	English (US)
Pages (from-to)	159-162
Number of pages	4
Journal	Journal of Cancer Research and Clinical Oncology
Volume	132
Issue number	3
DOIs	https://doi.org/10.1007/s00432-005-0056-6
State	Published - Mar 2006

Keywords

Base excision repair
Cirrhosis
Hepatitis
Liver disease
Oxidative stress

ASJC Scopus subject areas

Oncology
Cancer Research

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10.1007/s00432-005-0056-6

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title = "MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients",

abstract = "Purpose: Production of reactive oxygen species (ROS) during chronic inflammation has been implicated in the progression of liver diseases and carcinogenesis. Subjects with inflammatory liver disease and one non-functional allele of the base excision repair gene, MYH, may be more susceptible to progression to cancer due to MYH haploinsufficiency in repairing oxidative damage caused by ROS. Here, we investigated the association of two common germline MYH mutations in patients with hepatocellular carcinoma (HCC) and cholangiocarcinoma. Methods: DNA from patients with HCC (n = 48) or cholangiocarcinoma (n = 84) compared to non-cancerous controls (n = 308) were genotyped for the Y165C and G382D mutations in MYH. Results: There was no significant difference in MYH mutation carrier status between patients with HCC (1/48), cholangiocarcinoma (3/84), and non-cancerous controls (4/308). Conclusions: Patients with HCC or cholangiocarcinoma do not have an increased incidence of monoallelic MYH mutations pre-disposing them to disease.",

keywords = "Base excision repair, Cirrhosis, Hepatitis, Liver disease, Oxidative stress",

author = "Baudhuin, {Linnea M.} and Roberts, {Lewis R.} and Enders, {Felicity T.B.} and Swanson, {Russell L.} and Mettler, {Teresa A.} and Ileana Aderca and Stadheim, {Linda M.} and Highsmith, {W. Edward}",

note = "Funding Information: Financial Support: Grants CA82862 and CA100882 from the National Institutes of Health, a Harold Amos Medical Faculty Development Award from The Robert Wood Johnson Foundation, and from the Miles and Shirley Fiterman Center for Digestive Diseases at the Mayo Clinic, Rochester, MN (to L. Roberts).",

year = "2006",

month = mar,

doi = "10.1007/s00432-005-0056-6",

language = "English (US)",

volume = "132",

pages = "159--162",

journal = "Journal of Cancer Research and Clinical Oncology",

issn = "0171-5216",

publisher = "Springer Verlag",

number = "3",

}

TY - JOUR

T1 - MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients

AU - Baudhuin, Linnea M.

AU - Roberts, Lewis R.

AU - Enders, Felicity T.B.

AU - Swanson, Russell L.

AU - Mettler, Teresa A.

AU - Aderca, Ileana

AU - Stadheim, Linda M.

AU - Highsmith, W. Edward

N1 - Funding Information: Financial Support: Grants CA82862 and CA100882 from the National Institutes of Health, a Harold Amos Medical Faculty Development Award from The Robert Wood Johnson Foundation, and from the Miles and Shirley Fiterman Center for Digestive Diseases at the Mayo Clinic, Rochester, MN (to L. Roberts).

PY - 2006/3

Y1 - 2006/3

N2 - Purpose: Production of reactive oxygen species (ROS) during chronic inflammation has been implicated in the progression of liver diseases and carcinogenesis. Subjects with inflammatory liver disease and one non-functional allele of the base excision repair gene, MYH, may be more susceptible to progression to cancer due to MYH haploinsufficiency in repairing oxidative damage caused by ROS. Here, we investigated the association of two common germline MYH mutations in patients with hepatocellular carcinoma (HCC) and cholangiocarcinoma. Methods: DNA from patients with HCC (n = 48) or cholangiocarcinoma (n = 84) compared to non-cancerous controls (n = 308) were genotyped for the Y165C and G382D mutations in MYH. Results: There was no significant difference in MYH mutation carrier status between patients with HCC (1/48), cholangiocarcinoma (3/84), and non-cancerous controls (4/308). Conclusions: Patients with HCC or cholangiocarcinoma do not have an increased incidence of monoallelic MYH mutations pre-disposing them to disease.

AB - Purpose: Production of reactive oxygen species (ROS) during chronic inflammation has been implicated in the progression of liver diseases and carcinogenesis. Subjects with inflammatory liver disease and one non-functional allele of the base excision repair gene, MYH, may be more susceptible to progression to cancer due to MYH haploinsufficiency in repairing oxidative damage caused by ROS. Here, we investigated the association of two common germline MYH mutations in patients with hepatocellular carcinoma (HCC) and cholangiocarcinoma. Methods: DNA from patients with HCC (n = 48) or cholangiocarcinoma (n = 84) compared to non-cancerous controls (n = 308) were genotyped for the Y165C and G382D mutations in MYH. Results: There was no significant difference in MYH mutation carrier status between patients with HCC (1/48), cholangiocarcinoma (3/84), and non-cancerous controls (4/308). Conclusions: Patients with HCC or cholangiocarcinoma do not have an increased incidence of monoallelic MYH mutations pre-disposing them to disease.

KW - Base excision repair

KW - Cirrhosis

KW - Hepatitis

KW - Liver disease

KW - Oxidative stress

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MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients

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Keywords

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