NATURE AND THE NATURE RESEARCH JOURNALS PRESS RELEASE
For papers that will be published online on 08 October 2006
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This press release contains:
* Summaries of newsworthy papers:
New breast cancer susceptibility gene identified - Nature Genetics
* Mention of papers to be published at the same time with the same embargo
* Geographical listing of authors
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**********************************NATURE GENETICS ************************
 New breast cancer susceptibility gene identified
Women with mutations in a gene called BRIP1 have twice the normal risk of breast cancer, according to a study to be published in the November issue of Nature Genetics.
Mutations in three genes - BRCA1, BRCA2, and TP53 - are known to greatly increase the chance of developing breast cancer over a lifetime: for example, women carrying a BRCA mutation have a 50-80% chance of developing the disease. Mutations in two other genes - CHEK2 and ATM - confer a much more modest risk. Nazneen Rahman and colleagues screened 1,212 women with breast cancer, who did not have mutations in BRCA1 and BRCA2, for mutations in BRIP1. They report that nine of these women had mutations in the BRIP1 gene, which most likely inactivates the BRIP1 protein; only two of 2,081 women in a 'control' group without breast cancer demonstrated such mutations.
The authors estimate - by taking into consideration information from the control group and the families of affected individuals - that BRIP1 mutations result in an approximately two-fold increase in the risk of breast cancer, which puts the gene into the same class as CHEK2 and ATM. They believe that mutations in these so-called ‘low-penetrance’ susceptibility genes likely only predispose to cancer in concert with other mutations and/or environmental factors, and account for only a small fraction of the familial risk of breast cancer. Like the other risk genes, BRIP1 is involved in DNA repair, lending support to the idea that unrepaired DNA damage is a key trigger for breast cancer development.
Nazneen Rahman (Institute of Cancer Research, Sutton, UK)
Tel: +44 208 722 4026; E-mail: [email protected]
Other papers from Nature Genetics to be published online at the same time and with the same embargo
 DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
 Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
 Nuclear organization of active and inactive chromatin domains uncovered by colocalized chromatin capture and characterization (4C)
 Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions
Items from other Nature journals to be published online at the same time and with the same embargo:
 Surface expression of MHC class II in dendritic cells is controlled by regulated ubiquitination
 Inhibitors of Polo-like kinase reveal roles in spindle pole maintenance
 Probing cell division phenotype space and mitotic spindle assembly mechanisms using small molecule inhibitors
 Unconventional motional narrowing in the optical spectrum of a semiconductor quantum dot
 Phonons in a one-dimensional microfluidic crystal
NATURE MATERIALS (<http://www.nature.com/naturematerials>)
 Exciton polarizability in semiconductor nanocrystals
 Magnetic imaging of a supercooling glass transition in a weakly disordered ferromagnet
Nature NEUROSCIENCE (<http://www.nature.com/natureneuroscience>)
 Limited transfer of learning between unimanual and bimanual skills within the same limb
 Ongoing eye movements constrain visual perception
 Force field effects on cerebellar Purkinje cell discharge with implications for internal models
 An allocentric rather than perceptual deficit in patient D.F.
 Discrimination learning induced by training with identical stimuli
Nature IMMUNOLOGY (<http://www.nature.com/natureimmunology>)
 T cell anergy is reversed by active GTPase Ras and is regulated by diacylglycerol kinase-alpha
 Disruption of Diacylglycerol Metabolism Impairs T Cell Anergy
 RhoH GTPase recruits and activates Zap70 required for T-cell receptor signaling and thymocyte development
NATURE CELL BIOLOGY (<http://www.nature.com/naturecellbiology>)
 A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis
 Mitogenic signalling and the p16INK4a-Rb pathway cooperate to enforce irreversible cellular senescence
Nature STRUCTURAL & MOLECULAR BIOLOGY (<http://www.nature.com/natstructmolbiol>)
 RNA polymerase II C-terminal domain mediates regulation of alternative splicing by SRp20
 Amino acid residues in Rag1 crucial for DNA hairpin formation
GEOGRAPHICAL LISTING OF AUTHORS
The following list of places refers to the whereabouts of authors on the papers numbered in this release. The listing may be for an author's main affiliation, or for a place where they are working temporarily. Please see the PDF of the paper for full details.
Buenos Aires: 23
Montreal: 2, 3
Frankfurt am Main: 2
Amsterdam: 4, 11
Cambridge: 1, 7
Nottingham: 7, 17
UNITED STATES OF AMERICA
La Jolla: 14
New Haven: 6
Chicago: 18, 24
Kansas City: 3
Kansas City: 3
New York: 8, 11, 24
Stony Brook: 21
Salt Lake City: 19
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For media inquiries relating to editorial content/policy for the Nature Research Journals, please contact the journals individually:
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Nature Genetics (New York)
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Nature Immunology (New York)
Tel: +1 212 726 9372; E-mail: [email protected]
Nature Materials (London)
Tel: +44 20 7843 4556; E-mail: [email protected]
Nature Neuroscience (New York)
Sandra Aamodt (based in California)
Tel: +1 530 795 3256; E-mail: [email protected]
Nature Physics (London)
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Nature Structural & Molecular Biology (New York)
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