A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer.

ABSTRACT:

Unlabelled

The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region.

Methods

We screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer.

Results

The duplication allele had a frequency of 0.34 in the normal controls. There was a non-significant decrease in the f

SUBMITTER: Thompson E 

PROVIDER: S-EPMC1112586 | biostudies-literature | 2005 Apr

REPOSITORIES: biostudies-literature