Michael Nickerson

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Differences in the frequencies of tumor VHL mutation and HIF-2α expression between African American and white patients w

European Urology

Jun 2019

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Driver gene exome sequencing reveals distinct variants in African Americans with colorectal neoplasia.

Oncotarget

Jun 2019

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Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide. Journal of the Natio

Journal of the National Cancer Institute

Jun 2019

doi: 10.1093/jnci/djy171; PMID: 30517737

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Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a

Genome Medicine

Jun 2019

doi: 10.1186/s13073-018-0607-5; PMID: 30583724

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The Cancer Genome Atlas Research Network) (2018). Comprehensive molecular characterization of renal cell carcinoma. Cell

Cell Reports

Jun 2018

doi: 10.1016/j.celrep.2018.03.075; PMID: 29617669

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A mouse model of Schnyder corneal dystrophy with the N100S point mutation. Scientific Reports 8(1): 10219;

Scientific reports

Jun 2018

doi: 10.1038/s41598-018-28545-0; PMID: 29977031

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TET2 binds the androgen receptor and loss is associated with prostate cancer

Nov 2016

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Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.

Clinical Cancer Research

Sep 2014

PURPOSE: Genetic analysis of bladder cancer has revealed a number of frequently altered genes, including frequent alterations of the telomerase (TERT) gene promoter, although few altered genes have been functionally evaluated. Our objective is to characterize alterations observed by exome sequencing and sequencing of the TERT promoter, and to examine the functional relevance of histone lysine (K)-specific demethylase 6A (KDM6A/UTX), a frequently mutated histone demethylase, in bladder cancer. EXPERIMENTAL DESIGN: We analyzed bladder cancer samples from 54 U.S. patients by exome and targeted sequencing and confirmed somatic variants using normal tissue from the same patient. We examined the biologic function of KDM6A using in vivo and in vit

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Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister ch

Nature Genetics

Dec 2013

Bladder cancer is one of the most common cancers worldwide, with transitional cell carcinoma (TCC) being the predominant form. Here we report a genomic analysis of TCC by both whole-genome and whole-exome sequencing of 99 individuals with TCC. Beyond confirming recurrent mutations in genes previously identified as being mutated in TCC, we identified additional altered genes and pathways that were implicated in TCC. Notably, we discovered frequent alterations in STAG2 and ESPL1, two genes involved in the sister chromatid cohesion and segregation (SCCS) process. Furthermore, we also detected a recurrent fusion involving FGFR3 and TACC3, another component of SCCS, by transcriptome sequencing of 42 DNA-sequenced tumors. Overall, 32 of the 99 tu

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The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes

Human Mutation

Jul 2013

Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity. UBIAD1 was recently shown to synthesize menaquinone-4 (MK-4, vitamin K(2) ), but causal mechanisms of SCD are unknown. We report a novel c.864G>A UBIAD1 mutation altering glycine 177 to glutamic acid (p.G177E) in six SCD families, including four families from Finland who share a likely founder mutation. We observed reduced MK-4 synthesis by UBIAD1 altered by SCD mutations p.N102S, p.G177R/E, and p.D112N, and molecular models showed p.G177-mutant UBIAD1 disrupted transmembrane helices and active

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TET2 binds the androgen receptor and loss is associated with prostate cancer. Oncogene 36(15): 2172-2183

doi: 10.1038/onc.2016.376; PMID: 27819678

Michael Nickerson

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