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Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.MUTYH基因双等位基因和单等位基因突变人群患结外癌症的风险。
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3
The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancer.MUTYH 热点突变 p.G396D 和 p.Y179C 不会导致胆管癌的显著遗传易感性。
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本文引用的文献

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Genetic alterations of the MYH gene in gastric cancer.胃癌中MYH基因的遗传改变。
Oncogene. 2004 Sep 2;23(40):6820-2. doi: 10.1038/sj.onc.1207574.
2
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.患有轻度和典型息肉病以及无息肉的年轻结直肠癌患者中的 MYH 突变。
Gastroenterology. 2004 Jul;127(1):9-16. doi: 10.1053/j.gastro.2004.03.070.
3
Role of inherited defects of MYH in the development of sporadic colorectal cancer.MYH基因遗传性缺陷在散发性结直肠癌发生中的作用。
Genes Chromosomes Cancer. 2004 May;40(1):1-9. doi: 10.1002/gcc.20011.
4
Expression of 8-hydroxy-2'-deoxyguanosine in chronic liver disease and hepatocellular carcinoma.8-羟基-2'-脱氧鸟苷在慢性肝病和肝细胞癌中的表达
Liver Int. 2003 Oct;23(5):338-45. doi: 10.1034/j.1478-3231.2003.00868.x.
5
Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.MYH基因的遗传变异不太可能导致肺癌风险。
Hum Genet. 2004 Jan;114(2):207-10. doi: 10.1007/s00439-003-1033-2. Epub 2003 Oct 25.
6
Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias.儿童白血病中MYH Tyr165Cys和Gly382Asp变体的分析。
J Cancer Res Clin Oncol. 2003 Oct;129(10):604-5. doi: 10.1007/s00432-003-0483-1. Epub 2003 Aug 13.
7
Pathological significance of oxidative cellular damage in human alcoholic liver disease.氧化细胞损伤在人类酒精性肝病中的病理意义。
Histopathology. 2003 Apr;42(4):365-71. doi: 10.1046/j.1365-2559.2003.01599.x.
8
Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E.coli enzymes.对与结直肠癌相关的hMYH腺嘌呤糖基化酶遗传变异功能后果的深入研究：hMYH变异体的互补分析及相应突变大肠杆菌酶的稳态前动力学研究
J Mol Biol. 2003 Mar 21;327(2):431-43. doi: 10.1016/s0022-2836(03)00124-4.
9
Molecular pathogenesis of human hepatocellular carcinoma.人类肝细胞癌的分子发病机制
Toxicology. 2002 Dec 27;181-182:43-7. doi: 10.1016/s0300-483x(02)00253-6.
10
Oxidative stress in viral and alcoholic hepatitis.病毒和酒精性肝炎中的氧化应激
Free Radic Biol Med. 2003 Jan 1;34(1):1-10. doi: 10.1016/s0891-5849(02)01167-x.

肝细胞癌和胆管癌患者中的MYH Y165C和G382D突变

MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients.

作者信息

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

机构信息

Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 200 First Street SW, 920 Hilton Building, Rochester, MN 55905, USA.

出版信息

J Cancer Res Clin Oncol. 2006 Mar;132(3):159-62. doi: 10.1007/s00432-005-0056-6. Epub 2005 Nov 15.

DOI:10.1007/s00432-005-0056-6
PMID:16292541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12161052/
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.

摘要

目的

慢性炎症期间活性氧（ROS）的产生与肝脏疾病的进展和致癌作用有关。患有炎症性肝病且碱基切除修复基因MYH有一个无功能等位基因的受试者，可能因MYH单倍剂量不足而在修复ROS引起的氧化损伤方面更易发展为癌症。在此，我们研究了肝细胞癌（HCC）和胆管癌患者中两种常见的MYH种系突变的关联性。

方法

对48例HCC患者、84例胆管癌患者以及308例非癌对照者的DNA进行基因分型，以检测MYH中的Y165C和G382D突变。

结果

HCC患者（1/48）、胆管癌患者（3/84）和非癌对照者（4/308）的MYH突变携带者状态无显著差异。

结论

HCC或胆管癌患者单等位基因MYH突变的发生率并未增加，使其易患疾病。