title: Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family.
abstract: Multiple sclerosis is not known to be a risk factor for subsequent development of cancer. Recently, a multiple sclerosis locus was mapped adjacent to BRCA1 gene. We present a familial case affected by multiple sclerosis and cancer. We identified a c.5266dupC (5382insC) frameshift mutation in a 33-year-old woman with breast cancer, multiple malignant melanomas and multiple sclerosis. The patient's family history shows further cases of multiple sclerosis in BRCA1 mutation carriers. Therefore the presented family may carry a monogenic predisposition for multiple sclerosis nearby to BRCA1.
authors: Institute of Medical Genetics, University Hospital, Rostock, Germany.
authors: Carsten
authors: C
authors: Holzmann
authors: Ingrid
authors: I
authors: Bauer
authors: Peter
authors: P
authors: Meyer
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics* / Q000628:therapy; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000628:therapy; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000235:genetics* / Q000628:therapy; D009103:Multiple Sclerosis / Q000235:genetics*; D016254:Mutagenesis, Insertional; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: 5382insC; BRCA1; Breast cancer; Cancer; Hereditary; Linkage; MS; Melanoma; Multiple sclerosis