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Assessment of HMGA2 and PLAG1 rearrangements in breast adenomyoepitheliomas (2019)
Journal Article
Pareja, F., Geyer, F. C., Brown, D. N., Sebastião, A. P. M., Gularte-Mérida, R., Li, A., …Reis-Filho, J. S. (2019). Assessment of HMGA2 and PLAG1 rearrangements in breast adenomyoepitheliomas. npj Breast Cancer, 5, doi:10.1038/s41523-018-0101-7

Breast adenomyoepitheliomas (AMEs) are rare epithelial-myoepithelial neoplasms that may occasionally produce myxochondroid matrix, akin to pleomorphic adenomas (PAs). Regardless of their anatomic location, PAs often harbor rearrangements involving HM... Read More

Human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline focused update (2018)
Journal Article
Wolff, A. C., Hammond, M. E. H., Allison, K. H., Harvey, B. E., Mangu, P. B., Bartlett, J. M., …Dowsett, M. (2018). Human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline focused update. Archives of Pathology and Laboratory Medicine, 142(11), 1364-1382. doi:10.5858/arpa.2018-0902-sa

Breast tumours resembling the tall cell variant of thyroid papillary carcinoma: are they part of the papillary carcinoma spectrum or a distinct entity? (2018)
Journal Article
Toss, M., Billingham, K., Egbuniwe, I., Moreno, F., Abass, A., & Rakha, E. (2018). Breast tumours resembling the tall cell variant of thyroid papillary carcinoma: are they part of the papillary carcinoma spectrum or a distinct entity?. Pathobiology, (1-9). doi:10.1159/000490416. ISSN 1015-2008

Background: Papillary tumours of the breast are diagnostically challenging lesions and represent a wide spectrum of diseases from papilloma to invasive papillary carcinoma. A rare subtype of breast papillary tumour resembling the tall cell variant of... Read More

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors (2018)
Journal Article
Pareja, F., Brandes, A. H., Basili, T., Selenica, P., Geyer, F. C., Fan, D., …Reis-Filho, J. S. (2018). Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors. Nature Communications, 9, doi:10.1038/s41467-018-05886-y. ISSN 2041-1723

Granular cell tumors (GCTs) are rare tumors that can arise in multiple anatomical locations, and are characterized by abundant intracytoplasmic granules. The genetic drivers of GCTs are currently unknown. Here, we apply whole-exome sequencing and tar... Read More

A common classification framework for neuroendocrine neoplasms: an International Agency for Research on Cancer (IARC) and World Health Organization (WHO) expert consensus proposal (2018)
Journal Article
Rindi, G., Klimstra, D. S., Abedi-Ardekani, B., Asa, S. L., Bosman, F. T., Brambilla, E., …Cree, I. A. (2018). A common classification framework for neuroendocrine neoplasms: an International Agency for Research on Cancer (IARC) and World Health Organization (WHO) expert consensus proposal. Modern Pathology, 31, 1770–1786. doi:10.1038/s41379-018-0110-y

The classification of neuroendocrine neoplasms (NENs) differs between organ systems and currently causes considerable confusion. A uniform classification framework for NENs at any anatomical location may reduce inconsistencies and contradictions amon... Read More

Solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (solid papillary carcinomas with reverse polarity) harbour recurrent mutations affecting IDH2 and PIK3CA: a validation cohort (2018)
Journal Article
Lozada, J. R., Basili, T., Pareja, F., Alemar, B., Paula, A. D. C., Gularte-Merida, R., …Geyer, F. C. (2018). Solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (solid papillary carcinomas with reverse polarity) harbour recurrent mutations affecting IDH2 and PIK3CA: a validation cohort. Histopathology, 73(2), (339-344). doi:10.1111/his.13522. ISSN 0309-0167

Aims: Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (BPTC), also known as solid papillary carcinomawith reverse polarity, is a rare histological type of breast cancer that resembles morphologically t... Read More

Diagnostic concordance of reporting lymphovascular invasion in breast cancer (2018)
Journal Article
Rakha, E. A., Abbas, A., Pinto Ahumada, P., ElSayed, M. E., Colman, D., Pinder, S. E., & Ellis, I. O. (2018). Diagnostic concordance of reporting lymphovascular invasion in breast cancer. Journal of Clinical Pathology, 71(9), (802-805). doi:10.1136/jclinpath-2017-204981. ISSN 0021-9746

Aims: This study aims to assess the diagnostic agreement of lymphovascular invasion (LVI) in invasive breast cancer (BC). Methods: Data on LVI were collected from the UK National Health Service Breast Screening Programme pathology external quality... Read More

Associations between genomic stratification of breast cancer and centrally reviewed tumour pathology in the METABRIC cohort (2018)
Journal Article
Mukherjee, A., Russell, R., Chin, S., Liu, B., Rueda, O., Ali, H., …Provenzano, E. (2018). Associations between genomic stratification of breast cancer and centrally reviewed tumour pathology in the METABRIC cohort. npj Breast Cancer, 4(1), doi:10.1038/s41523-018-0056-8

The integration of genomic and transcriptomic profiles of 2000 breast tumours from the METABRIC [Molecular Taxonomy of Breast Cancer International Consortium] cohort revealed ten subtypes, termed integrative clusters (IntClust/s), characterised by di... Read More

The localization of pre mRNA splicing factor PRPF38B is a novel prognostic biomarker that may predict survival benefit of trastuzumab in patients with breast cancer overexpressing HER2 (2017)
Journal Article
Abdel-Fatah, T. M., Rees, R. C., Pockley, A. G., Moseley, P., Ball, G. R., Chan, S. Y., …Miles, A. K. (2017). The localization of pre mRNA splicing factor PRPF38B is a novel prognostic biomarker that may predict survival benefit of trastuzumab in patients with breast cancer overexpressing HER2. Oncotarget, 8(68), 112245-112257. doi:10.18632/oncotarget.22496

Cancer biomarkers that can define disease status and provide a prognostic insight are essential for the effective management of patients with breast cancer (BC). The prevalence, clinicopathological and prognostic significance of PRPF38B expression... Read More

Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer (2016)
Journal Article
Fusco, N., Geyer, F. C., De Filippo, M. R., Martelotto, L. G., Ng, C. K., Piscuoglio, S., …Weigelt, B. (2016). Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer. Modern Pathology, 29(11), 1292-1305. doi:10.1038/modpathol.2016.134

Adenoid cystic carcinoma of the breast is a rare histological type of triple-negative breast cancer with an indolent clinical behavior, often driven by the MYB-NFIB fusion gene. Here we sought to define the repertoire of somatic genetic alterations i... Read More

Review of the national external quality assessment (EQA) scheme for breast pathology in the UK (2016)
Journal Article
Rakha, E. A., Bennett, R. L., Coleman, D., Pinder, S. E., & Ellis, I. O. (2017). Review of the national external quality assessment (EQA) scheme for breast pathology in the UK. Journal of Clinical Pathology, 70(1), 51-57. doi:10.1136/jclinpath-2016-203800

Background: The National Health Service Breast Screening Programme (NHSBSP; pathology) external quality assurance (EQA) scheme aims to provide a mechanism for examination and monitoring of concordance of pathology reporting within the UK. This study... Read More

Genomic and protein expression analysis reveals flap endonuclease 1 (FEN1) as a key biomarker in breast and ovarian cancer (2014)
Journal Article
Abdel-Fatah, T. M., Russell, R., Albarakati, N., Maloney, D. J., Dorjsuren, D., Rueda, O. M., …Madhusudan, S. (2014). Genomic and protein expression analysis reveals flap endonuclease 1 (FEN1) as a key biomarker in breast and ovarian cancer. Molecular Oncology, 8(7), 1326-1338. doi:10.1016/j.molonc.2014.04.009

FEN1 has key roles in Okazaki fragment maturation during replication, long patch base excision repair, rescue of stalled replication forks, maintenance of telomere stability and apoptosis. FEN1 may be dysregulated in breast and ovarian cancers and ha... Read More