2015
DOI: 10.1016/j.cell.2015.09.033
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Abstract: Summary Invasive lobular carcinoma (ILC) is the second most prevalent histologic subtype of invasive breast cancer. Here, we comprehensively profiled 817 breast tumors, including 127 ILC, 490 ductal (IDC), and 88 mixed IDC/ILC. Besides E-cadherin loss, the best known ILC genetic hallmark, we identified mutations targeting PTEN, TBX3 and FOXA1 as ILC enriched features. PTEN loss associated with increased AKT phosphorylation, which was highest in ILC among all breast cancer subtypes. Spatially clustered FOXA1 mu… Show more

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Cited by 1,482 publications
(1,680 citation statements)
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References 67 publications
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“…The 1,100 BRCA cases with RNAseq data were filtered to exclude male and gender “unknown” samples (n = 13), metastatic tissue samples (n = 7) and one errant skin cancer sample yielding 1,079 female primary breast tumor samples for downstream expression analysis. PAM50 intrinsic molecular subtype assignments and PAM50 proliferation scores were computed as previously described, 48,49 and are available in eWorksheet 1 in Supplement 2. The subtypes segregate as follows: Basal-like (n = 189), HER2E (n = 82), LumA (n = 559), LumB (n = 209) and Normal-like (n = 40).…”
Section: Methodsmentioning
confidence: 99%
“…The 1,100 BRCA cases with RNAseq data were filtered to exclude male and gender “unknown” samples (n = 13), metastatic tissue samples (n = 7) and one errant skin cancer sample yielding 1,079 female primary breast tumor samples for downstream expression analysis. PAM50 intrinsic molecular subtype assignments and PAM50 proliferation scores were computed as previously described, 48,49 and are available in eWorksheet 1 in Supplement 2. The subtypes segregate as follows: Basal-like (n = 189), HER2E (n = 82), LumA (n = 559), LumB (n = 209) and Normal-like (n = 40).…”
Section: Methodsmentioning
confidence: 99%
“…To address this question, we analyzed the publicly available TCGA breast cancer data set using online interface, cBioPortal query algorithm and also included the genes characterized in Figures 1 and 2 (CCND1, PLK1, TPX2, PTEN, ESR1 and TP53), which represent the biological hallmarks of human breast cancer. First, review of TCGA data set revealed that Aurora-A copy gain/elevated expression was present in about 53% of the 971 breast cancers analyzed (29). Second, altered copy number/expression profiles observed in BLG-Aurora-A mouse mammary tumors (GLP1R, CCND1, PLK1, TPX2, ERCC5, PTEN, TCF7L2, ESR1 and TP53) were found to significantly co-occur with Aurora-A copy gain/overexpression in human breast cancer TCGA data set (Table 1).…”
Section: Co-occurrence Of Copy Number-altered Genes With Aurora-a Copmentioning
confidence: 99%
“…2B and Dataset S1, Table S4), indicating that our screen is selecting for genes that are relevant to many types of cancer. Finally, we used the TCGA breast cancer database (37,38) to identify genes mutated in human breast cancer (i.e., missense, nonsense, sense, and in-frame mutations). Among the 1,375 mutated genes listed in TCGA, 70 are SB-identified CCGs (P = 9.21E-12, two-sided Fisher's exact test; Fig.…”
Section: Sb Mutagenesis Promotes the Development Of Multiple Breast Cmentioning
confidence: 99%