Skip Navigation


Human Molecular Genetics Advance Access originally published online on August 5, 2003
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow A corrigendum has been published
Right arrow All Versions of this Article:
12/suppl_2/R271    most recent
ddg258v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Hohenstein, P.
Right arrow Articles by Fodde, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hohenstein, P.
Right arrow Articles by Fodde, R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R271-R277
DOI: 10.1093/hmg/ddg258
© 2003 Oxford University Press

Of mice and (wo)men: genotype–phenotype correlations in BRCA1

Peter Hohenstein1,2,* and Riccardo Fodde2,3

1MRC Human Genetics Unit, Edinburgh, UK, 2Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands and 3Department of Pathology, Josephine Nefkens Institute, Erasmus University Medical Center, Rotterdam, The Netherlands

Received July 4, 2003; Revised July 17, 2003; Accepted July 29, 2003

To date, over 6300 mutations in BRCA1, involving 1100 distinct sites, have been described and reported in the BIC (breast cancer information core) database. Since the first BRCA1 mutations in early-onset breast and ovarian cancer families were reported, several attempts to establish genotype–phenotype correlations for this gene have been reported. Moreover, in vitro data have suggested dominant-negative effects of putative mutant BRCA1 proteins over wild-type proteins. Genotype–phenotype correlations are not only important for predicting the clinical course of the disease and to allow tailor-made surveillance of individuals at risk, but also have implications for the elucidation of the molecular genetic mechanisms underlying BRCA1-mediated tumorigenesis and the development of gene transfer-based therapies. Here, we discuss genotype–phenotype correlations at the BRCA1 locus in mouse and man, and the functional aspects that may account for these observations.

* To whom correspondence should be addressed at: Department of Comparative Developmental Genetics, MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK. Email: peter.hohenstein{at}hgu.mrc.ac.uk


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
L.-L. Du, B. A. Moser, and P. Russell
Homo-oligomerization Is the Essential Function of the Tandem BRCT Domains in the Checkpoint Protein Crb2
J. Biol. Chem., September 10, 2004; 279(37): 38409 - 38414.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.