New mutation in the hMSH2 gene in a Spanish Muir-Torre syndrome [4]

American Journal of Gastroenterology

Volumn 95, Issue 9, 2000, Pages 2389-2390

  Caldés, Trinidad ^a   Godino, Javier ^b   Perez Segura, Pedro ^b   De La Hoya, Miguel ^b   Diaz Rubio, Eduardo ^b   Benito, Manuel ^b  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b Pharmacology Unit   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CANCER RISK; CASE REPORT; COLORECTAL CANCER; DISEASE ASSOCIATION; EPITHELIUM TUMOR; EXON; GENE MUTATION; HUMAN; LETTER; MALE; MUIR TORRE SYNDROME; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033826505     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9270(00)01136-9     Document Type: Letter

References (9)

1. Association of sebaceous gland tumours and internal malignancy: The Muir-Torre syndrome
2. Structure of the human hMSH2 locus and analysis of two Muir-Torre syndrome kindreds for hMSH2 mutations
3. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?
4. Lessons from hereditary colorectal cancer
5. Denaturing gradient gel electrophoresis-based analysis of loss of heterozygosity distinguishes nonobvious, deleterious BRCA1 variants from non-pathogenic polymorphisms
6. Genetic testing in families with hereditary nonpolyposis colon cancer
7. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutation similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria
8. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
9. The cancer family syndrome: Rare cutaneous phenotypic linkage of Torre's syndrome