Individuals with mutations in a gene called PALB2 have more than twice the normal risk of breast cancer, according to a study to be published in the February 2007 issue of Nature Genetics.
The protein encoded by PALB2 was recently shown to interact with and stabilize another protein called BRCA2. As mutations in BRCA2 result in a dramatic increase in risk of breast cancer, Nazneen Rahman and colleagues sequenced PALB2 in approximately 1,000 individuals with familial breast cancer in search of mutations. Mutations were identified in one copy of PALB2 in 10 of these individuals, while no mutations were found in more than 1,000 individuals without breast cancer. Although PALB2 is a relatively small contributor to the overall incidence of breast cancer in the general population, it is now the fourth susceptibility gene to be identified by the strategy of resequencing candidate genes in families where breast cancer is common. This strategy may be applicable to the discovery of genes that confer elevated risk of other cancers as well.
In two related studies, Johan de Winter, David Livingston and colleagues and Rahman and colleagues show that individuals with mutations in both copies of PALB2 have Fanconi anemia, a syndrome characterized by a range of birth defects, bone marrow failure, growth retardation, and cancer predisposition. This is the twelfth gene found with mutations in individuals with Fanconi anemia, and the third (with BRCA2 and BRIP1) that is associated with elevated risk of breast cancer when only one copy is mutated.
Authors paper 
Johan de Winter (VU University Medical Center,Amsterdam, The Netherlands)
David Livingston (Harvard Medical School, Boston, MA, USA)
Author papers  & 
Nazneen Rahman (Institute of Cancer Research, Sutton, UK)
Please note this author is away at the moment. For all enquiries please contact:
Emma Gilgun-Jones (Press Office, Cancer Research UK, London, UK)
Abstracts available online:
(C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza
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