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[Mutation in the MSH2 gene in Muir-Torre syndrome].
Ann Dermatol Venereol. 1999 Aug-Sep; 126(8-9):600-3.AD

Abstract

BACKGROUND

The Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by skin tumors associated with adenocarcinoma of the colon or other neoplasias observed in the context of hereditary non-polyposis colorectal cancer (HNPCC). The Muir-Torre syndrome is also characterized by the frequent presence of multiple colonic polyps and the relatively moderate aggressivity of the tumors.

CASE REPORT

We studied a family with Muir-Torre syndrome. We sequenced the exons of the hMSH2 gene in this family and identified heterozygous germinal mutation by G insert at position 2427 (2427insG). This mutation changes the lecture phase producing a premature codon stop.

DISCUSSION

Our study confirms the predominant responsibility of the hMSH2 gene in Tuir-Torre syndrome. This clinical case and data reported in the literature demonstrate the importance of searching for a history of non-polyposis colorectal cancer in patients and relatives and the unstable genome characteristic of these tumors found in sebaceous tumors or keratoacanthomas. Sequencing the hMSH2 gene should be a priority when clinical features, history and laboratory tests suggest Muir-Torre syndrome.

Authors+Show Affiliations

Laboratoire de Génétique Moléculaire, Hôpital Tenon, Paris.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

fre

PubMed ID

10530347

Citation

Godard, V, et al. "[Mutation in the MSH2 Gene in Muir-Torre Syndrome]." Annales De Dermatologie Et De Venereologie, vol. 126, no. 8-9, 1999, pp. 600-3.
Godard V, Coulet F, Bernaudin JF, et al. [Mutation in the MSH2 gene in Muir-Torre syndrome]. Ann Dermatol Venereol. 1999;126(8-9):600-3.
Godard, V., Coulet, F., Bernaudin, J. F., Housset, M., & Soubrier, F. (1999). [Mutation in the MSH2 gene in Muir-Torre syndrome]. Annales De Dermatologie Et De Venereologie, 126(8-9), 600-3.
Godard V, et al. [Mutation in the MSH2 Gene in Muir-Torre Syndrome]. Ann Dermatol Venereol. 1999 Aug-Sep;126(8-9):600-3. PubMed PMID: 10530347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutation in the MSH2 gene in Muir-Torre syndrome]. AU - Godard,V, AU - Coulet,F, AU - Bernaudin,J F, AU - Housset,M, AU - Soubrier,F, PY - 1999/10/26/pubmed PY - 1999/10/26/medline PY - 1999/10/26/entrez SP - 600 EP - 3 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 126 IS - 8-9 N2 - BACKGROUND: The Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by skin tumors associated with adenocarcinoma of the colon or other neoplasias observed in the context of hereditary non-polyposis colorectal cancer (HNPCC). The Muir-Torre syndrome is also characterized by the frequent presence of multiple colonic polyps and the relatively moderate aggressivity of the tumors. CASE REPORT: We studied a family with Muir-Torre syndrome. We sequenced the exons of the hMSH2 gene in this family and identified heterozygous germinal mutation by G insert at position 2427 (2427insG). This mutation changes the lecture phase producing a premature codon stop. DISCUSSION: Our study confirms the predominant responsibility of the hMSH2 gene in Tuir-Torre syndrome. This clinical case and data reported in the literature demonstrate the importance of searching for a history of non-polyposis colorectal cancer in patients and relatives and the unstable genome characteristic of these tumors found in sebaceous tumors or keratoacanthomas. Sequencing the hMSH2 gene should be a priority when clinical features, history and laboratory tests suggest Muir-Torre syndrome. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/10530347/[Mutation_in_the_MSH2_gene_in_Muir_Torre_syndrome]_ L2 - http://www.em-consulte.com/retrieve/pii/MDOI-AD-08-1999-126-8-9-0151-9638-101019-ART7 DB - PRIME DP - Unbound Medicine ER -