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Disease Markers
Volume 14, Issue 1, Pages 1-8

Clues to the Function of the Tumour Susceptibility Gene BRCA2

Simon A. Gayther and Bruce A. J. Ponder

CRC Human Cancer Genetics Research Group, Box 238, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 2QQ, UK

Received 9 December 1999; Accepted 9 December 1999

Copyright © 1998 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The breast cancer susceptibility gene BRCA2 was isolated in 1995. BRCA2 is a large gene comprising 10,254 nucleotides and 26 coding exons. Neither the nucleotide nor the predicted protein sequences (comprising 3,418 amino acids) have provided substantial clues about its function. As a result, researchers have been trying to elucidate the function using a combination of cell biological and biochemical methods and the construction of animal models using gene targeting in mice. Recent data suggest that BRCA2 may participate in pathways associated with recombination or double-strand DNA break repair and may act by either sensing or responding to DNA damage. In addition, there is evidence to suggest that BRCA2 functions in a manner similar to the previously isolated breast cancer susceptibility gene BRCA1.