Human Molecular Genetics, Vol 5, 1515-1519, Copyright © 1996 by Oxford University Press
MR Stratton
The breast cancer susceptibility gene, BRCA1, was isolated in 1994. Recent
investigations into the genetic epidemiology of BRCA1 have revealed an
unexpectedly high prevalence of mutations amongst Ashkenazi Jews. Analyses
of BRCA1 function have indicated that it may act as an inhibitor of cell
proliferation and is necessary for normal development in the mouse. The
presence of a motif in BRCA1 characteristic of a family of proteins known
as granins, has led to the suggestion that the protein is secreted into the
extracellular space. The BRCA2 gene has recently been identified. BRCA2
encodes a large protein of 3418 amino acids without strong homology to any
other protein in the database. However, BRCA2 also contains a putative
granin motif and a different eight times repeated motif of unknown
function. In addition to breast and ovarian cancer, germline BRCA2
mutations probably confer a small risk of a wide range of cancers. Somatic
mutations of BRCA2 in sporadic breast and ovarian cancer are very rare. The
gene for Cowden syndrome has recently been located and it will now be
possible to assess whether it is responsible for the set of families not
accounted for by BRCA1 and BRCA2.
REVIEWS
Recent advances in understanding of genetic susceptibility to breast cancer
Molecular Carcinogenesis Section, Haddow Laboratories, Institute of Cancer Research, Sutton, Surrey, UK.
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