Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

Mads Thomassen; Torben A Kruse; Karen Ege Olsen; A Borg; Anne Marie Gerdes

doi:10.1007/s10549-004-9503-3

Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

Breast Cancer Res Treat. 2004 Oct;87(3):273-6. doi: 10.1007/s10549-004-9503-3.

Authors

Mads Thomassen¹, Torben A Kruse, Karen Ege Olsen, A Borg, Anne Marie Gerdes

Affiliation

¹ Department of Clinical Genetics and Clinical Biochemistry, KKA, Odense University Hospital, Sdr Boulevard 29, Denmark. [email protected]

PMID: 15528970
DOI: 10.1007/s10549-004-9503-3

Abstract

We have examined a family with a germline BRCA2 mutation in three cases of invasive breast cancer and one case of ductal carcinoma in situ (DCIS). Loss of heterozygosity (LOH) has been demonstrated at the BRCA2 locus in all cases. This result may suggest that the germline mutation in BRCA2 is the initiating step of DCIS and support the theory that DCIS is a precursor of invasive breast carcinoma in hereditary breast cancer.

Publication types

Case Reports

MeSH terms

Adult
Breast Neoplasms / genetics*
Carcinoma, Intraductal, Noninfiltrating / genetics*
Female
Genes, BRCA2*
Genetic Predisposition to Disease*
Humans
Loss of Heterozygosity*
Male
Mutation
Pedigree