The breast cancer susceptibility gene BRCA2

The BRCA2 gene on 13q12 comprises 27 exons
spanning 80 kb of genomic DNA that encode a
10.4 kb mRNA transcript. Its protein has 3418
amino acids. Exon 11 is large (11.5 kb), as in
BRCA1. Mutations occur throughout the gene
(only some are shown). A deletion of thymine at
nucleotide position 6174 (6174delT) is relatively
(1%) frequent in the Ashkenazi Jewish
population.
The BRCA2 protein has a transcriptional activation
domain near the N-terminus and a nuclear
location signal (NLS) near the C-terminus. A
large central domain consists of eight copies of
a 30–80-amino-acid repeat, which are conserved
in all mammalian BRCA2 proteins (BRC
repeats).