Computational analysis of cancer genome sequencing data

I Cortés-Ciriano, DC Gulhan, JJK Lee… - Nature Reviews …, 2022 - nature.com
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

[HTML][HTML] Detection of genomic structural variants from next-generation sequencing data

L Tattini, R D'Aurizio, A Magi - Frontiers in bioengineering and …, 2015 - frontiersin.org
Structural variants are genomic rearrangements larger than 50 bp accounting for around 1%
of the variation among human genomes. They impact on phenotypic diversity and play a role …

[HTML][HTML] Genetic and functional drivers of diffuse large B cell lymphoma

A Reddy, J Zhang, NS Davis, AB Moffitt, CL Love… - Cell, 2017 - cell.com
Diffuse large B cell lymphoma (DLBCL) is the most common form of blood cancer and is
characterized by a striking degree of genetic and clinical heterogeneity. This heterogeneity …

SOX2 promotes lineage plasticity and antiandrogen resistance in TP53- and RB1-deficient prostate cancer

P Mu, Z Zhang, M Benelli, WR Karthaus, E Hoover… - Science, 2017 - science.org
Some cancers evade targeted therapies through a mechanism known as lineage plasticity,
whereby tumor cells acquire phenotypic characteristics of a cell lineage whose survival no …

[HTML][HTML] CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing

E Talevich, AH Shain, T Botton… - PLoS computational …, 2016 - journals.plos.org
Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …

Clonal evolution of glioblastoma under therapy

J Wang, E Cazzato, E Ladewig, V Frattini… - Nature …, 2016 - nature.com
Glioblastoma (GBM) is the most common and aggressive primary brain tumor. To better
understand how GBM evolves, we analyzed longitudinal genomic and transcriptomic data …

[HTML][HTML] Targeting immune checkpoints potentiates immunoediting and changes the dynamics of tumor evolution

M Efremova, D Rieder, V Klepsch… - Nature …, 2018 - nature.com
The cancer immunoediting hypothesis postulates a dual role of the immune system:
protecting the host by eliminating tumor cells, and shaping the tumor by editing its genome …

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

M Krauthammer, Y Kong, A Bacchiocchi, P Evans… - Nature …, 2015 - nature.com
We report on whole-exome sequencing (WES) of 213 melanomas. Our analysis established
NF1, encoding a negative regulator of RAS, as the third most frequently mutated gene in …

The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome

AC da Silva Almeida, F Abate, H Khiabanian… - Nature …, 2015 - nature.com
Sézary syndrome is a leukemic and aggressive form of cutaneous T cell lymphoma (CTCL)
resulting from the malignant transformation of skin-homing central memory CD4+ T cells …

A phase II trial of the aurora kinase a inhibitor alisertib for patients with castration-resistant and neuroendocrine prostate cancer: efficacy and biomarkers

H Beltran, C Oromendia, DC Danila… - Clinical Cancer …, 2019 - AACR
Purpose: Neuroendocrine prostate cancer (NEPC) is an aggressive variant of prostate
cancer that may develop de novo or as a mechanism of treatment resistance. N-myc is …