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Cancer Sequencing Papers of Note: Apr 19, 2011


MicroRNA expression signatures of bladder cancer revealed by deep sequencing.
Han Y, Chen J, Zhao X, et al.
PLoS One. 2011 Mar 28;6(3):e18286.

Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes.
Hillmer AM, Yao F, Inaki K, et al.
Genome Res. 2011 Apr 5. [Epub ahead of print]

Transcriptional consequences of genomic structural aberrations in breast cancer.
Inaki K, Hillmer AM, Ukil L, et al.
Genome Res. 2011 Apr 5. [Epub ahead of print]

Differential genome-wide profiling of tandem 3' UTRs among human breast cancer and normal cells by high-throughput sequencing.
Fu Y, Sun Y, Li Y, et al.
Genome Res. 2011 Apr 7. [Epub ahead of print]

Cancer-associated loss-of-function mutations implicate DAPK3 as a tumor-suppressing kinase.
Brognard J, Zhang YW, Puto LA, Hunter T.
Cancer Res. 2011 Apr 12. [Epub ahead of print]

Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy.
Sinclair PB, Parker H, An Q, et al.
Hum Mol Genet. 2011 Apr 12. [Epub ahead of print]

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A, Rimoldi D, Martinet D, et al.
PLoS One. 2011 Apr 8;6(4):e18369.

Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias.
Itzykson R, Kosmider O, Cluzeau T, et al.
Leukemia. 2011 Apr 15. [Epub ahead of print]

Distinct patterns of somatic alterations in a lymphoblastoid and a tumor genome derived from the same individual.
Galante PA, Parmigiani RB, Zhao Q, et al.
Nucleic Acids Res. 2011 Apr 14. [Epub ahead of print]

High-resolution characterization of a hepatocellular carcinoma genome.
Totoki Y, Tatsuno K, Yamamoto S, et al.
Nat Genet. 2011 Apr 17. [Epub ahead of print]

Exome sequencing identifies GRIN2A as frequently mutated in melanoma.
Wei X, Walia V, Lin JC, et al.
Nat Genet. 2011 Apr 15. [Epub ahead of print]

PathScan: A tool for discerning mutational significance in groups of putative cancer genes.
Wendl MC, Wallis JW, Lin L, et al.
Bioinformatics. 2011 Apr 14. [Epub ahead of print]

Transcriptome sequencing demonstrates that human papillomavirus is not active in cutaneous squamous cell carcinoma.
Arron ST, Ruby JG, Dybbro E, Ganem D, Derisi JL.
J Invest Dermatol. 2011 Apr 14. [Epub ahead of print]

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.