Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

The expanding landscape of alternative splicing variation in human populations

E Park, Z Pan, Z Zhang, L Lin, Y Xing - The American Journal of Human …, 2018 - cell.com
Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …

Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy

JG Lohr, P Stojanov, SL Carter, P Cruz-Gordillo… - Cancer cell, 2014 - cell.com
We performed massively parallel sequencing of paired tumor/normal samples from 203
multiple myeloma (MM) patients and identified significantly mutated genes and copy number …

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma

N Bolli, H Avet-Loiseau, DC Wedge, P Van Loo… - Nature …, 2014 - nature.com
Multiple myeloma is an incurable plasma cell malignancy with a complex and incompletely
understood molecular pathogenesis. Here we use whole-exome sequencing, copy-number …

The molecular pathogenesis of chronic lymphocytic leukaemia

G Fabbri, R Dalla-Favera - Nature Reviews Cancer, 2016 - nature.com
Recent investigations have provided an increasingly complete picture of the genetic
landscape of chronic lymphocytic leukaemia (CLL). These analyses revealed that the CLL …

Chronic lymphocytic leukaemia

TJ Kipps, FK Stevenson, CJ Wu, CM Croce… - Nature reviews Disease …, 2017 - nature.com
Chronic lymphocytic leukaemia (CLL) is a malignancy of CD5+ B cells that is characterized
by the accumulation of small, mature-appearing lymphocytes in the blood, marrow and …

Monoclonal B-cell lymphocytosis and early-stage chronic lymphocytic leukemia: diagnosis, natural history, and risk stratification

P Strati, TD Shanafelt - Blood, The Journal of the American …, 2015 - ashpublications.org
Monoclonal B lymphocytosis (MBL) is defined as the presence of a clonal B-cell population
in the peripheral blood with fewer than 5× 109/L B-cells and no other signs of a …

Chronic lymphocytic leukaemia

L Scarfò, AJM Ferreri, P Ghia - Critical reviews in oncology/hematology, 2016 - Elsevier
Chronic lymphocytic leukaemia (CLL) is the most common leukaemia among the adults in
the Western World. CLL (and the corresponding nodal entity small lymphocytic lymphoma …

Mapping complex disease traits with global gene expression

W Cookson, L Liang, G Abecasis, M Moffatt… - Nature Reviews …, 2009 - nature.com
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …

From pathogenesis to treatment of chronic lymphocytic leukaemia

T Zenz, D Mertens, R Küppers, H Döhner… - Nature Reviews …, 2010 - nature.com
Chronic lymphocytic leukaemia (CLL) has several unique features that distinguish it from
other cancers. Most CLL tumour cells are inert and arrested in G0/G1 of the cell cycle and …