Breast cancer genetics and more -- press release from PLoS Medicine

PLEASE MENTION THE OPEN-ACCESS JOURNAL PLoS MEDICINE (www.plosmedicine.org) AS THE SOURCE FOR THESE ARTICLES AND PROVIDE A LINK TO THE FREELY-AVAILABLE TEXT. THANK YOU.

All works published in PLoS Medicine are open access. Everything is immediately available without cost to anyone, anywhere--to read, download, redistribute, include in databases, and otherwise use--subject only to the condition that the original authorship is properly attributed. Copyright is retained by the authors. The Public Library of Science uses the Creative Commons Attribution License.

Genetic variant of BARD1 and risk of breast cancer in Iceland

A variant -Cys557Ser- of a gene called BARD1 may have a role in triggering breast cancer in some women. A team of researchers from deCODE genetics studied 1,090 Icelandic women who had had breast cancer and compared them with 703 unaffected women to see whether the Cys557Ser variant of BARD1 was associated with an increased risk for breast cancer. They then used a computerized genealogy of the Icelandic population to study the relationships between the Cys557Ser variant and familial clustering of breast cancer.

The protein encoded by BARD1 interacts with the protein encoded by BRCA1; defects in BRCA1 are known to increase the risk of breast cancer, and hence the researchers believed that defects in an interacting protein might have a similar effect. The researchers found that the Cys557Ser allele was nearly twice as common in women with breast cancer as in control women, although the absolute frequency remains small -1.6% in controls versus 2.8% in women with cancer. It was also more common in women who had a family history of breast cancer or who had developed breast cancer more than once. The most striking result was that carrying the Cys557Ser allele seemed to increase the already high risk of breast cancer in women who had a BRCA2 variant (known as BRCA2 999del5) that accounts for 40% of inherited breast cancer risk in Iceland.

These results suggest that inheriting the BARD1 Cys557Ser allele increases a woman's breast cancer risk, but for most women the risk is only slight. However, the increase in risk for women who also carry the BRCA2 999del5 mutation is dramatic, and in that context it may be worthwhile developing a clinical test for the BARD1 Cys557Ser allele. These findings need to be confirmed in other groups of patients before anyone is routinely tested for the BARD1 variant.

Citation: Stacey SN, Sulem P, Johannsson OT, Helgason A, Gudmundsson J, et al. (2006) The BARD1 Cys557Ser variant and breast cancer risk in Iceland. PLoS Med 3(7): e217.

PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030217

PRESS-ONLY PREVIEW OF THE ARTICLE: http://www.plos.org/press/plme-03-07-stacey.pdf

Related images for press use: http://www.plos.org/press/plme-03-07-stacey.jpg

Caption: Geographical Ancestry of BARD1 Cys557Ser Carriers in Iceland

CONTACT:
Edward Farmer
Director of Corporate Communication
deCODE Genetics
+1 646 417 4555
edward.farmer@decode.is

THE FOLLOWING RESEARCH ARTICLES WILL ALSO BE PUBLISHED ONLINE:

Embryonic Pig Pancreatic Tissue Transplantation for the Treatment of Diabetes

Pancreatic tissue from embryonic pigs co-transplanted with or without human immune cells into immune-deficient mice suggests that the embryonic stage of the pig donor affects the immunogenicity of the graft.

Citation: Eventov-Friedman S, Tchorsh D, Katchman H, Shezen E, Aronovich A, et al. (2006) Embryonic pig pancreatic tissue transplantation for the treatment of diabetes. PLoS Med 3(7): e215.

PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030215

PRESS-ONLY PREVIEW OF THE ARTICLE: http://www.plos.org/press/plme-03-07-reisner.pdf

CONTACT:
Yair Reisner
Weizmann Institute of Science
Department of Immunology
Weizmann Institute of Science Wolfson Building, Room 420
Rehovot, 76100 Israel
+972 (8) 9344023
+972 (8) 9344145 (fax)
yair.reisner@weizmann.ac.il

Mutation of von Hippel-Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

Physiological study of patients with Chuvash polycythemia (caused by mutation of VHL) reveals characteristics similar to those associated with acclimatization to the hypoxia of high altitude.

Citation: Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, et al. (2006) Mutation of von Hippel–Lindau tumour suppressor and human cardiopulmonary physiology. PLoS Med 3(7): e290.

PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030290

PRESS-ONLY PREVIEW OF THE ARTICLE: http://www.plos.org/press/plme-03-07-robbins.pdf

CONTACT:
Peter Robbins
University of Oxford
Department of Physiology, Anatomy and Genetics
Sherrington Building
Parks Road
Oxford, OX13PT United Kingdom
+44-1865-272490
+44-1865-282486 (fax)
peter.robbins@physiol.ox.ac.uk

###

About PLoS Medicine
PLoS Medicine is an open access, freely available international medical journal. It publishes original research that enhances our understanding of human health and disease, together with commentary and analysis of important global health issues. For more information, visit http://www.plosmedicine.org

About the Public Library of Science
The Public Library of Science (PLoS) is a non-profit organization of scientists and physicians committed to making the world's scientific and medical literature a freely available public resource. For more information, visit http://www.plos.org


Last reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
    Published on PsychCentral.com. All rights reserved.

 

 

Curiosity is lying in wait for every secret.
~ Ralph Waldo Emerson