Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer.
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Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer. / Holst, Frederik; Stahl, Phillip; Ruiz, Christian; Hellwinkel, Olaf; Jehan, Zeenath; Wendland, Marc; Lebeau, Annette; Terracciano, Luigi; Al-Kuraya, Khawla; Jänicke, Fritz; Sauter, Guido; Simon, Ronald.
In: NAT GENET, Vol. 39, No. 5, 5, 2007, p. 655-660.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer.
AU - Holst, Frederik
AU - Stahl, Phillip
AU - Ruiz, Christian
AU - Hellwinkel, Olaf
AU - Jehan, Zeenath
AU - Wendland, Marc
AU - Lebeau, Annette
AU - Terracciano, Luigi
AU - Al-Kuraya, Khawla
AU - Jänicke, Fritz
AU - Sauter, Guido
AU - Simon, Ronald
PY - 2007
Y1 - 2007
N2 - Using an Affymetrix 10K SNP array to screen for gene copy number changes in breast cancer, we detected a single-gene amplification of the ESR1 gene, which encodes estrogen receptor alpha, at 6q25. A subsequent tissue microarray analysis of more than 2,000 clinical breast cancer samples showed ESR1 amplification in 20.6% of breast cancers. Ninety-nine percent of tumors with ESR1 amplification showed estrogen receptor protein overexpression, compared with 66.6% cancers without ESR1 amplification (P <0.0001). In 175 women who had received adjuvant tamoxifen monotherapy, survival was significantly longer for women with cancer with ESR1 amplification than for women with estrogen receptor-expressing cancers without ESR1 amplification (P = 0.023). Notably, we also found ESR1 amplification in benign and precancerous breast diseases, suggesting that ESR1 amplification may be a common mechanism in proliferative breast disease and a very early genetic alteration in a large subset of breast cancers.
AB - Using an Affymetrix 10K SNP array to screen for gene copy number changes in breast cancer, we detected a single-gene amplification of the ESR1 gene, which encodes estrogen receptor alpha, at 6q25. A subsequent tissue microarray analysis of more than 2,000 clinical breast cancer samples showed ESR1 amplification in 20.6% of breast cancers. Ninety-nine percent of tumors with ESR1 amplification showed estrogen receptor protein overexpression, compared with 66.6% cancers without ESR1 amplification (P <0.0001). In 175 women who had received adjuvant tamoxifen monotherapy, survival was significantly longer for women with cancer with ESR1 amplification than for women with estrogen receptor-expressing cancers without ESR1 amplification (P = 0.023). Notably, we also found ESR1 amplification in benign and precancerous breast diseases, suggesting that ESR1 amplification may be a common mechanism in proliferative breast disease and a very early genetic alteration in a large subset of breast cancers.
M3 - SCORING: Zeitschriftenaufsatz
VL - 39
SP - 655
EP - 660
JO - NAT GENET
JF - NAT GENET
SN - 1061-4036
IS - 5
M1 - 5
ER -