Correspondence letter co-authored by Dept. of Genetics researchers printed in July edition of Nature Genetics


Researchers from the Department of Genetics co-author a letter to the editor, printed in correspondence section in the The July edition of Nature Genetics, under the title "ESR1 gene amplification in breast cancer: a common phenomenon?"

Here, they comment findings from Holst et al, who in the article entitled "Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer" investigated the clinical relevance of ESR1 (estrogen receptor alpha) gene amplification in human breast cancer and reported that the ESR1 gene is amplified in 21% of breast carcinomas.

The conclusion of the correspondence letter is as follows:

"In summary, we have found in our own unpublished and in published aCGH data only 12 of 533 (2.3%) samples with amplification for the ESR1 gene and only an additional 14 (2.6%) breast tumors with gain. We think that it is highly unlikely that the frequency of ESR1 gene amplification is as high as 21%; the frequency is more likely to be less than 5%. It remains to be explored whether the high frequency reported by Holst et al.1 is due to selection of breast cancer cases or to technical issues related to the assessment of ESR1 gene copy number status."


Horlings HM, Bergamaschi A, Nordgard SH, Kim YH, Han W, Noh DY, Salari K, Joosse SA, Reyal F, Lingjaerde OC, Kristensen VN, Børresen-Dale AL, Pollack J, van de Vijver MJ. ESR1 gene amplification in breast cancer: a common phenomenon? Nat Genet. 2008 Jul;40(7):807-8; author reply 810-2. Link to PubMed | The comment in PDF format.

Department of Genetics