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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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Holzmann C,Bauer I,Meyer P

doi

10.1016/j.ejmg.2013.07.006

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

577-9

issue

10

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(13)00161-4

journal_volume

56

pub_type

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