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Prediction of outcome in newly diagnosed myeloma: a meta-analysis of the molecular profiles of 1905 trial patients.
(NATURE PUBLISHING GROUP, 2018-01-01)
Robust establishment of survival in multiple myeloma (MM) and its relationship to recurrent genetic aberrations is required as outcomes are variable despite apparent similar staging. We assayed copy number alterations (CNA) ...
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
(NATURE PUBLISHING GROUP, 2016-06-22)
Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ...
Meeting report from the joint IARC-NCI international cancer seminar series: a focus on colorectal cancer.
(ELSEVIER, 2019-04-01)
Despite significant progress in our understanding of the etiology, biology and genetics of colorectal cancer, as well as important clinical advances, it remains the third most frequently diagnosed cancer worldwide and is ...
Daratumumab, Cyclophosphamide, Bortezomib, Lenalidomide, and Dexamethasone as Induction and Extended Consolidation Improves Outcome in Ultra-High-Risk Multiple Myeloma.
(LIPPINCOTT WILLIAMS & WILKINS, 2023-08-10)
PURPOSE: The multicenter OPTIMUM (MUKnine) phase II trial investigated daratumumab, low-dose cyclophosphamide, lenalidomide, bortezomib, and dexamethasone (Dara-CVRd) before and after autologous stem-cell transplant (ASCT) ...
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study.
(SPRINGERNATURE, 2021-03-30)
BACKGROUND: We conducted a Mendelian randomisation (MR) study to investigate whether physical activity (PA) causes a reduction of colorectal cancer risk and to understand the contributions of effects mediated through changes ...
Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk.
(NATURE PORTFOLIO, 2022-06-30)
Limited efforts have been made in assessing the effect of genome-wide profiling of RNA splicing-related variation on lung cancer risk. In the present study, we first identified RNA splicing-related genetic variants linked ...
Algorithmic considerations when analysing capture Hi-C data.
(2020-01-01)
Chromosome conformation capture methodologies have provided insight into the effect of 3D genomic architecture on gene regulation. Capture Hi-C (CHi-C) is a recent extension of Hi-C that improves the effective resolution ...
Search for AL amyloidosis risk factors using Mendelian randomization.
(ELSEVIER, 2021-07-13)
In amyloid light chain (AL) amyloidosis, amyloid fibrils derived from immunoglobulin light chain are deposited in many organs, interfering with their function. The etiology of AL amyloidosis is poorly understood. Summary ...
Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population.
(NATURE PORTFOLIO, 2023-05-26)
Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study of lung ...
Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome.
(WILEY, 2022-09-15)
Cancer patients treated with capecitabine and oxaliplatin (XELOX) often develop hand-foot syndrome (HFS) or palmar-plantar erythrodysesthesia. Genetic variation in ST6GAL1 is a risk factor for type-2 diabetes (T2D), a ...