Jorge Reis-Filho


Affiliation: Memorial Sloan-Kettering Cancer Center
Country: USA


  1. Ng C, Bidard F, Piscuoglio S, Geyer F, Lim R, de Bruijn I, et al. Genetic Heterogeneity in Therapy-Naïve Synchronous Primary Breast Cancers and Their Metastases. Clin Cancer Res. 2017;23:4402-4415 pubmed publisher
    ..Mutational signature shifts might contribute to spatial intratumor genetic heterogeneity. Clin Cancer Res; 23(15); 4402-15. ©2017 AACR. ..
  2. Lee J, Schizas M, Geyer F, Selenica P, Piscuoglio S, Sakr R, et al. Lobular Carcinomas In Situ Display Intralesion Genetic Heterogeneity and Clonal Evolution in the Progression to Invasive Lobular Carcinoma. Clin Cancer Res. 2019;25:674-686 pubmed publisher
    ..Intralesion genetic heterogeneity is observed in LCIS and should be considered in studies aiming to develop biomarkers of progression from LCIS to more advanced lesions. ..
  3. Ng C, Piscuoglio S, Geyer F, Burke K, Pareja F, Eberle C, et al. The Landscape of Somatic Genetic Alterations in Metaplastic Breast Carcinomas. Clin Cancer Res. 2017;23:3859-3870 pubmed publisher
    ..i>Clin Cancer Res; 23(14); 3859-70. ©2017 AACR. ..
  4. Piscuoglio S, Ng C, Martelotto L, Eberle C, Cowell C, Natrajan R, et al. Integrative genomic and transcriptomic characterization of papillary carcinomas of the breast. Mol Oncol. 2014;8:1588-602 pubmed publisher
    ..Despite displaying similar patterns of gene copy number alterations, significant differences in the transcriptomic profiles of EPCs, SPCs and IPCs were found, and may account for their different histologic features. ..
  5. Shi W, Ng C, Lim R, Jiang T, Kumar S, Li X, et al. Reliability of Whole-Exome Sequencing for Assessing Intratumor Genetic Heterogeneity. Cell Rep. 2018;25:1446-1457 pubmed publisher
    ..Excluding mutations affecting low-mappability regions or occurring in certain mutational contexts was found to reduce artifacts, yet detection of subclonal mutations by WES in the absence of orthogonal validation remains unreliable. ..
  6. Pareja F, Brandes A, Basili T, Selenica P, Geyer F, Fan D, et al. Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. Nat Commun. 2018;9:3533 pubmed publisher
  7. Ng C, Martelotto L, Gauthier A, Wen H, Piscuoglio S, Lim R, et al. Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification. Genome Biol. 2015;16:107 pubmed publisher
  8. Geyer F, Li A, Papanastasiou A, Smith A, Selenica P, Burke K, et al. Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas. Nat Commun. 2018;9:1816 pubmed publisher
  9. López Knowles E, Wilkerson P, Ribas R, Anderson H, Mackay A, Ghazoui Z, et al. Integrative analyses identify modulators of response to neoadjuvant aromatase inhibitors in patients with early breast cancer. Breast Cancer Res. 2015;17:35 pubmed publisher

More Information


  1. Weigelt B, Eberle C, Cowell C, Ng C, Reis Filho J. Metaplastic breast carcinoma: more than a special type. Nat Rev Cancer. 2014;14:147-8 pubmed publisher
    ..MBC is a descriptive and operational term for a heterogeneous collection of tumours with distinct histologies, clinical behaviours and potentially responses to therapy. ..
  2. Sakr R, Schizas M, Carniello J, Ng C, Piscuoglio S, Giri D, et al. Targeted capture massively parallel sequencing analysis of LCIS and invasive lobular cancer: Repertoire of somatic genetic alterations and clonal relationships. Mol Oncol. 2016;10:360-70 pubmed publisher
    ..The presence of identical mutations between LCIS-LCIS and LCIS-ILC pairs demonstrates that LCIS is a clonal neoplastic lesion, and provides additional evidence that at least some LCIS are non-obligate precursors of ILC. ..
  3. Piscuoglio S, Ng C, Murray M, Guerini Rocco E, Martelotto L, Geyer F, et al. The Genomic Landscape of Male Breast Cancers. Clin Cancer Res. 2016;22:4045-56 pubmed publisher
    ..Given the genomic differences, caution may be needed in the application of biologic and therapeutic findings from studies of female breast cancers to male breast cancers. Clin Cancer Res; 22(16); 4045-56. ©2016 AACR. ..
  4. de Mattos Arruda L, Weigelt B, Cortes J, Won H, Ng C, Nuciforo P, et al. Capturing intra-tumor genetic heterogeneity by de novo mutation profiling of circulating cell-free tumor DNA: a proof-of-principle. Ann Oncol. 2014;25:1729-35 pubmed publisher, NCT01090960. ..
  5. Martelotto L, Ng C, Piscuoglio S, Weigelt B, Reis Filho J. Breast cancer intra-tumor heterogeneity. Breast Cancer Res. 2014;16:210 pubmed publisher
  6. Riaz N, Blecua P, Lim R, Shen R, Higginson D, Weinhold N, et al. Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. Nat Commun. 2017;8:857 pubmed publisher
    ..Here, the authors show that mutually exclusive bi-allelic inactivation of HR genes are present in other cancer types and associated with genomic features of HR deficiency, expanding the potential use of HR-directed therapies. ..
  7. Geyer F, Pareja F, Weigelt B, Rakha E, Ellis I, Schnitt S, et al. The Spectrum of Triple-Negative Breast Disease: High- and Low-Grade Lesions. Am J Pathol. 2017;187:2139-2151 pubmed publisher