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The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.

作者信息

Bapat B, Xia L, Madlensky L, Mitri A, Tonin P, Narod S A, Gallinger S

出版信息

Am J Hum Genet. 1996 Sep;59(3):736-9.

PMID:8751876
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914892/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b10/1914892/907841976c3d/ajhg00022-0252-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b10/1914892/907841976c3d/ajhg00022-0252-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b10/1914892/907841976c3d/ajhg00022-0252-a.jpg

相似文献

1
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.穆尔-托雷综合征的遗传基础包括hMLH1基因座。
Am J Hum Genet. 1996 Sep;59(3):736-9.
2
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.遗传性非息肉病性结直肠癌的基因型-表型相关性：41例穆尔-托雷综合征患者中msh2突变占主导地位
J Med Genet. 2004 Jul;41(7):567-72. doi: 10.1136/jmg.2003.012997.
3
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC.穆尔-托雷综合征的基因改变谱与遗传性非息肉病性结直肠癌相同。
Am J Med Genet A. 2004 Mar 15;125A(3):318-9. doi: 10.1002/ajmg.a.20523.
4
[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].[穆尔-托雷综合征与家族性结直肠癌：2个进行分子遗传学分析的家系]
Ann Dermatol Venereol. 1999 Aug-Sep;126(8-9):582-6.
5
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.MLH1和MSH2突变在出现皮脂腺肿瘤或角化棘皮瘤的遗传性非息肉病性结直肠癌（HNPCC）患者穆尔-托雷综合征表型中的价值。
J Invest Dermatol. 2006 Oct;126(10):2302-7. doi: 10.1038/sj.jid.5700475. Epub 2006 Jul 6.
6
More than just skin deep!: a report on a family with Muir-Torre syndrome.不止于皮肤表面：一例穆尔-托雷综合征家族报告。
Int J Colorectal Dis. 2007 Aug;22(8):987-9. doi: 10.1007/s00384-006-0119-4. Epub 2006 Mar 31.
7
Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome.穆尔-托雷综合征患者皮肤和内部肿瘤中微卫星不稳定性及MSH-2和MLH-1的免疫染色
J Cutan Pathol. 2002 Aug;29(7):415-20. doi: 10.1034/j.1600-0560.2002.290705.x.
8
MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome.MSH-6：扩展免疫组织化学作为穆尔-托雷综合征筛查工具的可靠性。
Mod Pathol. 2008 Feb;21(2):159-64. doi: 10.1038/modpathol.3800997. Epub 2007 Dec 7.
9
[Mutation in the MSH2 gene in Muir-Torre syndrome].[穆尔-托雷综合征中MSH2基因的突变]
Ann Dermatol Venereol. 1999 Aug-Sep;126(8-9):600-3.
10
Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.穆尔-托雷综合征与奠基者错配修复基因突变：一个早已远去的历史遗传学挑战。
Gene. 2016 Sep 10;589(2):127-32. doi: 10.1016/j.gene.2015.06.078. Epub 2015 Jul 2.

引用本文的文献

1
[Recurrent eyelid tumors with different dignities].[不同严重程度的复发性眼睑肿瘤]
Ophthalmologe. 2019 Nov;116(11):1083-1086. doi: 10.1007/s00347-019-0928-9.
2
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation.穆尔-托里综合征患者腮腺皮脂腺癌，由MSH2突变引起。
Head Neck Pathol. 2016 Sep;10(3):354-61. doi: 10.1007/s12105-015-0670-9. Epub 2015 Nov 17.
3
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.同步性胃癌和皮脂腺癌，一种与MLH1相关的穆尔-托雷综合征的罕见表现。

本文引用的文献

1
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.遗传性非息肉病性结直肠癌患者错配修复基因分析
Nat Med. 1996 Feb;2(2):169-74. doi: 10.1038/nm0296-169.
2
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
Cancer Res. 1995 Dec 15;55(24):6092-6.
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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.遗传性非息肉病性结直肠癌中一种MutS同源物的突变
Cell. 1993 Dec 17;75(6):1215-25. doi: 10.1016/0092-8674(93)90330-s.
Int J Clin Exp Pathol. 2014 Jul 15;7(8):5196-202. eCollection 2014.
4
Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.多发性自愈性掌跖癌：一种具有原发性掌跖和结膜病变的皮肤癌家族易感性。
J Invest Dermatol. 2015 Jan;135(1):304-308. doi: 10.1038/jid.2014.311. Epub 2014 Jul 22.
5
Simultaneous Muir-Torre and Turcot's syndrome: A case report and review of the literature.同时发生的穆尔-托里综合征和图尔科特综合征：一例病例报告及文献综述
Surg Neurol Int. 2013 Apr 12;4:52. doi: 10.4103/2152-7806.110512. Print 2013.
6
[Muir-Torre syndrome with previously undescribed frameshift mutation in the MSH2 gene].[伴有MSH2基因中先前未描述的移码突变的穆尔-托综合征]
Hautarzt. 2013 Apr;64(4):290-4. doi: 10.1007/s00105-012-2503-z.
7
Endometrial cancer as a familial tumor: pathology and molecular carcinogenesis (review).子宫内膜癌作为一种家族性肿瘤：病理学和分子致癌发生（综述）。
Curr Genomics. 2009 Apr;10(2):127-32. doi: 10.2174/138920209787847069.
8
Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme.在一名多形性胶质母细胞瘤患者中识别穆尔-托里综合征。
Neuro Oncol. 2009 Aug;11(4):452-5. doi: 10.1215/15228517-2008-101. Epub 2008 Nov 21.
9
Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer.对具有HNPCC相关家族性癌症易感性的子宫内膜癌患者DNA错配修复（MMR）基因的分子流行病学和突变分析。
Cancer Sci. 2008 Sep;99(9):1715-9. doi: 10.1111/j.1349-7006.2008.00886.x. Epub 2008 Jul 9.
10
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.穆尔-托里综合征：基因型和表型的扩展——一个携带MSH6突变的家族
Fam Cancer. 2008;7(3):255-7. doi: 10.1007/s10689-008-9183-y. Epub 2008 Jan 31.
4
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.人类错配修复基因同源物MSH2及其与遗传性非息肉病性结直肠癌的关联。
Cell. 1993 Dec 3;75(5):1027-38. doi: 10.1016/0092-8674(93)90546-3.
5
Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families.遗传性非息肉病性结直肠癌：与2p15 - 16连锁分析将COCA1基因座定位到D2S123的端粒侧，并揭示了7个加拿大家庭中的遗传异质性。
Am J Hum Genet. 1994 Jun;54(6):1067-77.
6
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome.穆尔-托雷综合征与癌症家族综合征的遗传连锁位于同一染色体区域。
Eur J Cancer. 1994;30A(2):180-2. doi: 10.1016/0959-8049(94)90083-3.
7
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.DNA错配修复基因同源物hMLH1的突变与遗传性非息肉病性结直肠癌相关。
Nature. 1994 Mar 17;368(6468):258-61. doi: 10.1038/368258a0.
8
Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.遗传性非息肉病性结直肠癌患者良性和恶性肿瘤中的复制错误
Cancer Res. 1994 Apr 1;54(7):1645-8.
9
Mutation of a mutL homolog in hereditary colon cancer.遗传性结肠癌中mutL同源物的突变
Science. 1994 Mar 18;263(5153):1625-9. doi: 10.1126/science.8128251.
10
Microsatellite instability in Muir-Torre syndrome.
Cancer Res. 1994 Mar 1;54(5):1159-63.