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deCODE Discovers Fourth Major Set of Common Genetic Variants Linked to Risk of Estrogen Receptor-Positive Breast Cancer
Date:4/27/2008

Markers will form the basis of a DNA diagnostic test to identify women who may benefit from more intensive screening; latest findings folded into

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REYKJAVIK, Iceland, April 27 /PRNewswire-FirstCall/ -- Scientists from deCODE genetics (Nasdaq: DCGN) today report the discovery of two common single-letter variants (SNPs) on chromosome 5 of the human genome that are associated with risk of estrogen receptor-positive (ER+) breast cancer. More than 60% of the general population carry at least one copy of the risk variant of the most important SNP, called rs4415084, and women who have inherited the variant from both parents are at approximately 50% greater risk of developing ER+ breast cancer than women who have not inherited the variant. The second variant is located nearby and occurs only in tandem with the first, adding slight risk of the disease. Although these variants confer modest risk, they are so common that they are estimated to account for approximately 11% of breast cancers overall. The paper, 'Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer,' is published today in the online edition of Nature genetics, at http://www.nature.com/ng.

With this latest discovery, the genetic factors underpinning a very significant proportion of inherited risk of ER+ breast cancer have now been elucidated. Common variants previously discovered by deCODE on chromosomes 2q35 and 16q12 are together involved in an estimated 25% of ER+ breast cancers. The analysis in today's paper also reveals that a fourth known set of variants, located on chromosome 10q26 and accounting for approximately 16% of
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