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• W2026431367 abstract "Estrogen receptor α (ER) is an important feature of a majority of breast cancers and a target for hormone therapy. ER is encoded by the ESR1 gene, located in chromosomal region 6q25.1. RNA expression of ESR1 and associated pathway defines the luminal subtypes of breast cancer. Amplification of ESR1 has been reported to occur in around 20% of breast cancers and to correlate with ER protein expression.1 This observation raised the possibility that response of patients to hormone therapy might be affected by ESR1 gene copy number and corresponding ER protein level. Within ER-positive cases, survival was indeed shown to be longer in cases with ESR1 amplification than in cases without ESR1 amplification.1 Array-comparative genomic hybridization (aCGH) is a powerful tool to study gene copy number. We studied 274 breast cancers by this technique using high-density oligonucleotide microarrays (Hu-244A, Agilent Technologies, Massy, France) following a described protocol.2 Among them, 229 cases were also profiled at the mRNA level by using Affymetrix U133 Plus 2.0 human oligonucleotide microarrays following a described protocol.3 Based on gene expression profiling, our panel comprised 98 luminal A, 23 luminal B, 56 basal, 27 ERBB2, 18 normal-like and 7 nonassigned samples. The panel also comprised various clinical forms including 45 inflammatory breast carcinomas and 62 samples from patients under 35 years. All samples were otherwise characterized by immunohistochemistry (IHC)4; 168 cases showed ER expression (cut-off 10%). We looked at the 6q25 region and ESR1 gene status. We found no amplification of ESR1 in our panel of tumors (Fig. 1a). One inflammatory, ER-positive nonassigned tumor and 4 out of 47 basal tumors showed a regional gain of the long arm of chromosome 6. In contrast, regional 8p11-12 and 11q13 amplifications associated with luminal tumors,1, 5-7 other frequent types of gene amplification such as CCND1, ERBB2 and MYC, and amplifications that occur less frequently in breast cancer (e.g. EGFR, FGFR2) were readily detected (not shown). We were also able to detect low copy number gains (not shown). Thus, amplification of ESR1 could not have escaped detection. Status of the ESR1 locus in breast cancer assessed by array-comparative genomic hybridization (aCGH). (a) aCGH profiles centered on the ESR1 gene established in 66 of the 98 luminal A cases. For each luminal case, the regional genomic profiles were established with CGH analytics® software (Agilent Technologies) within the genomic interval [151.5–152.8 Mb] of the long arm of the chromosome 6 (hg17 human genome mapping; build 35 from NCBI, May 2004 version). No copy number gain was detected in all tested luminal cases. (b) and (c) Two examples of copy number transition profiles represented with individual oligonucleotide data and centered on ESR1, within the genomic interval 151.5–153.1 Mb. Red and green dots correspond to aberration score [log2 ratio] values > or < |0.5| respectively (defining gains or losses) obtained for each oligonucleotide located on the aCGH matrix covering the genomic sequence; black dots correspond to nonsignificant copy number aberration values (neither gain nor loss). (b) The regional genomic profile obtained in a luminal B case represents a transition between a centromeric gain and a telomeric loss centered on ESR1. It defines a potential gene breakage (BP1) in an interval of about 6 kb between two oligonucleotides located at chr6:152,366,193–152,366,253 and chr6:152,371,813–152,371,873 presenting the highest aberration score [log2 ratio] variation in the genomic sequence. (c) The regional genomic profile established in a basal case shows a transition centered on ESR1 associated with a centromeric loss. It defines a second potential gene breakage (BP2) in an interval of about 8 kb between two oligonucleotides located at chr6:152,389,569–152,389,629 and chr6:152,397,973–152,398,033. (d) Example of a copy number loss profile centered on ESR1. Within the same genomic interval [151.5–153.1 Mb], representation using ADM2 segmentation (with boxes) of the regional genomic profile established in luminal A case shows copy number losses that occur in the ESR1 locus. This representation allows the determination of the deleted genomic interval defined by the highest purple box centered on ESR1. It defines a deleted region of about 173 kb between two oligonucleotides located at chr6:152, 304,601–152,304,661 and chr6:152,478,132–152, 478,192 in the ESR1 locus. (e) Map of the potential breakages and deletion in the ESR1 locus. Genomic organization of chromosome 6q25.1 with the location of the breakpoint (BP1 and BP2) and deletion region from top to bottom and from centromere to telomere (Mb scale). Green boxes correspond to PAC and BAC clones used in a previous study.1 the ESR1 gene organization is taken from build 35 from NCBI (May 2004 version) and spans the genomic interval chr6:152,103,745–152,516,522, as defined in Refseq genes. Clustered on a genomic segment of 32.0 kb [chr6:152,366,193–152,398,033], the two potential gene breakages BP1 and BP2 could be refined from centromere to telomere, on intervals defined in (b) and (c) of about 6 and 8 kb (vertical arrows) targeting ESR1 between exons 7 and 8. The deleted region observed in the luminal A case covered an interval defined in (d) of about 173 kb (fluorescent green line) between exons 6 and 9 of ESR1. It is noticeable that the two potential breakages and deleted region target a common region of ESR1. Three tumors showed an abnormal ESR1 locus. Two tumors, one luminal B (Fig. 1b) and one basal (IHC-defined as basal tumor,4 Fig. 1c), showed a break in ESR1, and one luminal A showed a deletion of ESR1 (Fig. 1d). The two luminal tumors were ER-positive. Deletion and breaks occurred in the same region, towards the 3′ of the ESR1 locus (Fig. 1e), suggesting that fragility of this region may lead to inactivation of the gene. We thus conclude that ESR1 amplification is not present in our panel of 274 tumors, which included 168 ER-positive cases. On the contrary, rare potentially-inactivating events were detected. Yours sincerely, José Adélaïde, Pascal Finetti, Emmanuelle Charafe-Jauffret, Julien Wicinski, Jocelyne Jacquemier, Christos Sotiriou, François Bertucci, Daniel Birnbaum, Max Chaffanet." @default.
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• W2026431367 date "2008-10-15" @default.
• W2026431367 modified "2023-10-17" @default.
• W2026431367 title "Absence of ESR1 amplification in a series of breast cancers" @default.
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• W2026431367 doi "https://doi.org/10.1002/ijc.23786" @default.
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