[Mutation in the MSH2 gene in Muir-Torre syndrome].
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.


METHODS
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.


CONCLUSIONS
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.
Godard
V
V
Laboratoire de Génétique Moléculaire, Hôpital Tenon, Paris.
Coulet
F
F
Bernaudin
J F
JF
Housset
M
M
Soubrier
F
F
D000230:Adenocarcinoma / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000368:Aged; D020137:Base Pair Mismatch / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics; D003111:Colonic Polyps / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D007636:Keratoacanthoma / Q000235:genetics; D051718:MutS Homolog 2 Protein; D016254:Mutagenesis, Insertional / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012307:Risk Factors; D012626:Sebaceous Gland Neoplasms / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome
D003062:Codon; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D006147:Guanine; D000251:Adenosine Triphosphatases; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein