Browsing Molecular Pathology by title
Now showing items 357-376 of 889
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Genetics of relapse and treatment resistance in multiple myeloma
(Institute of Cancer Research (University Of London), 2022-05-31)Better understanding of the mechanisms of relapse and treatment resistance in myeloma could improve clinical outcomes. Copy number aberrations (CNA) are a major feature of multiple myeloma, however their evolution over ... -
Genome-wide and high-density CRISPR-Cas9 screens identify point mutations in PARP1 causing PARP inhibitor resistance.
(NATURE PUBLISHING GROUP, 2018-05-01)Although PARP inhibitors (PARPi) target homologous recombination defective tumours, drug resistance frequently emerges, often via poorly understood mechanisms. Here, using genome-wide and high-density CRISPR-Cas9 ... -
Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
(NATURE PUBLISHING GROUP, 2017-02-06)Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed ... -
Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.
(NATURE PORTFOLIO, 2017-01-23)B-cell malignancies (BCM) originate from the same cell of origin, but at different maturation stages and have distinct clinical phenotypes. Although genetic risk variants for individual BCMs have been identified, an agnostic, ... -
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
(NATURE PUBLISHING GROUP, 2016-07-01)Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power ... -
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
(NATURE PORTFOLIO, 2018-04-09)Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform ... -
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
(AMER SOC HEMATOLOGY, 2018-11-08)To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL ... -
Genome-wide barcoded transposon screen for cancer drug sensitivity in haploid mouse embryonic stem cells.
(NATURE PUBLISHING GROUP, 2017-03-01)We describe a screen for cellular response to drugs that makes use of haploid embryonic stem cells. We generated ten libraries of mutants with piggyBac gene trap transposon integrations, totalling approximately 100,000 ... -
Genome-wide characterization reveals complex interplay between TP53 and TP63 in response to genotoxic stress.
(OXFORD UNIV PRESS, 2014-01-01)In response to genotoxic stress the TP53 tumour suppressor activates target gene expression to induce cell cycle arrest or apoptosis depending on the extent of DNA damage. These canonical activities can be repressed by ... -
Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer.
(CELL PRESS, 2019-06-26)Despite biomarker stratification, the anti-EGFR antibody cetuximab is only effective against a subgroup of colorectal cancers (CRCs). This genomic and transcriptomic analysis of the cetuximab resistance landscape in 35 RAS ... -
Genomic and transcriptomic heterogeneity in metaplastic carcinomas of the breast.
(NATURE PUBLISHING GROUP, 2017-12-01)Metaplastic breast cancer (MBC) is a rare special histologic type of triple-negative breast cancer, characterized by the presence of neoplastic cells showing differentiation towards squamous epithelium and/or mesenchymal ... -
Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.
(LIPPINCOTT WILLIAMS & WILKINS, 2021-09-10)PURPOSE: Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. Despite aggressive therapy, the 5-year survival rate for patients with metastatic or recurrent disease remains poor, and beyond PAX-FOXO1 fusion ... -
Genomic Classification and Prognosis in Acute Myeloid Leukemia.
(MASSACHUSETTS MEDICAL SOC, 2016-06-09)BACKGROUND: Recent studies have provided a detailed census of genes that are mutated in acute myeloid leukemia (AML). Our next challenge is to understand how this genetic diversity defines the pathophysiology of AML and ... -
Genomic evolution and chemoresistance in germ-cell tumours.
(NATURE PUBLISHING GROUP, 2016-11-30)Germ-cell tumours (GCTs) are derived from germ cells and occur most frequently in the testes. GCTs are histologically heterogeneous and distinctly curable with chemotherapy. Gains of chromosome arm 12p and aneuploidy are ... -
Genomic Instability and TP53 Genomic Alterations Associate With Poor Antiproliferative Response and Intrinsic Resistance to Aromatase Inhibitor Treatment.
(AMER SOC CLINICAL ONCOLOGY, 2019-01)PURPOSE: Although aromatase inhibitor (AI) treatment is effective in estrogen receptor-positive postmenopausal breast cancer, resistance is common and incompletely explained. Genomic instability, as measured by somatic ... -
Genomic landscape and clonal architecture of mouse oral squamous cell carcinomas dictate tumour ecology.
(NATURE PORTFOLIO, 2020-11-09)To establish whether 4-nitroquinoline N-oxide-induced carcinogenesis mirrors the heterogeneity of human oral squamous cell carcinoma (OSCC), we have performed genomic analysis of mouse tongue lesions. The mutational ... -
Genomic landscape of platinum resistant and sensitive testicular cancers.
(NATURE PUBLISHING GROUP, 2020-05-04)While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ... -
Genomic profile of advanced breast cancer in circulating tumour DNA.
(NATURE PORTFOLIO, 2021-04-23)The genomics of advanced breast cancer (ABC) has been described through tumour tissue biopsy sequencing, although these approaches are limited by geographical and temporal heterogeneity. Here we use plasma circulating ... -
Geospatial immune variability illuminates differential evolution of lung adenocarcinoma.
(NATURE PORTFOLIO, 2020-07-01)Remarkable progress in molecular analyses has improved our understanding of the evolution of cancer cells toward immune escape1-5. However, the spatial configurations of immune and stromal cells, which may shed light on ... -
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
(AMER SOC HEMATOLOGY, 2016-11-10)Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ...
