[Mutation in the MSH2 gene in Muir-Torre syndrome]. / Mutation du gène MSH2 dans le syndrome de Muir-Torre.
Ann Dermatol Venereol
; 126(8-9): 600-3, 1999.
Article
em Fr
| MEDLINE
| ID: mdl-10530347
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.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
/
Proteínas Proto-Oncogênicas
/
Adenosina Trifosfatases
/
Pareamento Incorreto de Bases
/
Proteínas de Ligação a DNA
/
Neoplasias Gastrointestinais
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Aged
/
Female
/
Humans
Idioma:
Fr
Ano de publicação:
1999
Tipo de documento:
Article