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Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast.
(WILEY, 2014-04-01)
Micropapillary carcinoma (MPC) is a rare histological special type of breast cancer, characterized by an aggressive clinical behaviour and a pattern of copy number aberrations (CNAs) distinct from that of grade- and oestrogen ...
Systematic evaluation of the prognostic impact and intratumour heterogeneity of clear cell renal cell carcinoma biomarkers.
(ELSEVIER, 2014-07-19)
BACKGROUND: Candidate biomarkers have been identified for clear cell renal cell carcinoma (ccRCC) patients, but most have not been validated. OBJECTIVE: To validate published ccRCC prognostic biomarkers in an independent ...
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
(NATURE PUBLISHING GROUP, 2014-08-07)
Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population ...
Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer.
(CELL PRESS, 2019-06-26)
Despite biomarker stratification, the anti-EGFR antibody cetuximab is only effective against a subgroup of colorectal cancers (CRCs). This genomic and transcriptomic analysis of the cetuximab resistance landscape in 35 RAS ...
Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing.
(OXFORD UNIV PRESS INC, 2018-08-27)
BACKGROUND: Circulating free DNA sequencing (cfDNA-Seq) can portray cancer genome landscapes, but highly sensitive and specific technologies are necessary to accurately detect mutations with often low variant frequencies. ...
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
(MASSACHUSETTS MEDICAL SOC, 2016-08-04)
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized ...
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
(NATURE PORTFOLIO, 2016-11-09)
Pre-surgical studies allow study of the relationship between mutations and response of oestrogen receptor-positive (ER+) breast cancer to aromatase inhibitors (AIs) but have been limited to small biopsies. Here in phase I ...