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List of works by P. Andrew Futreal

1-Mb resolution array-based comparative genomic hybridization using a BAC clone set optimized for cancer gene analysis

scientific article

9p21 loss confers a cold tumor immune microenvironment and primary resistance to immune checkpoint therapy

scientific article published on 23 September 2021

A Cryptic BCR-PDGFRB Fusion Resulting in a Chronic Myeloid Neoplasm With Monocytosis and Eosinophilia: A Novel Finding With Treatment Implications

scientific article published on 01 October 2020

A Preexisting Rare PIK3CAE545K Subpopulation Confers Clinical Resistance to MEK plus CDK4/6 Inhibition in NRAS Melanoma and Is Dependent on S6K1 Signaling.

scientific article published in March 2018

A census of human cancer genes

scientific article

A comprehensive catalogue of somatic mutations from a human cancer genome

scientific article

A deletion unit on chromosome 17q in epithelial ovarian tumors distal to the familial breast/ovarian cancer locus

scientific article published on 01 March 1993

A functional genomic approach to actionable gene fusions for precision oncology

scientific article published on 09 February 2022

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

scientific article published on December 2006

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia

scientific article published on 01 February 2007

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing

scientific article

A pilot study of pembrolizumab in smoldering myeloma: report of the clinical, immune, and genomic analysis

scientific article published on 01 August 2019

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

scientific article published on 22 May 2005

A small-cell lung cancer genome with complex signatures of tobacco exposure

scientific article

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

scientific journal article

A survey of RNA editing in human brain

scientific article

A survey of homozygous deletions in human cancer genomes

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

AACR Cancer Progress Report 2012 ⬇️

scientific article published on September 11, 2012

Aberrant splicing of the TSG101 tumor suppressor gene in human breast and ovarian cancers☆

scientific article published on 01 September 1998

Activating NOTCH1 Mutations Define a Distinct Subgroup of Patients With Adenoid Cystic Carcinoma Who Have Poor Prognosis, Propensity to Bone and Liver Metastasis, and Potential Responsiveness to Notch1 Inhibitors

scientific article published on 21 November 2016

Acute promyelocytic leukemia (APL) with an IRF2BP2-RARA fusion transcript: an aggressive APL variant

scientific article published on 11 July 2020

Allele loss on chromosome 1p36 in epithelial ovarian cancers

scientific article published on 01 July 2001

Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma

scientific article

An Alu polymorphism intragenic to the TP53 gene ⬇️

scientific article published on December 25, 1991

Analysis of Immune Signatures in Longitudinal Tumor Samples Yields Insight into Biomarkers of Response and Mechanisms of Resistance to Immune Checkpoint Blockade

scientific article published on 14 June 2016

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

scientific article

Androgen receptor blockade promotes response to BRAF/MEK-targeted therapy

scientific article published on 15 June 2022

Antitumor Response of VEGFR2- and VEGFR3-Amplified Angiosarcoma to Pazopanib

scientific article published in May 2016

Applying Artificial Intelligence to Address the Knowledge Gaps in Cancer Care

scientific article published on 16 November 2018

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

scientific article

Are sarcomas hereditary?

scientific article published on 04 August 2016

Assessing tumor heterogeneity using ctDNA to predict and monitor therapeutic response in metastatic breast cancer

scientific article published on 04 July 2019

Associations of inflammation with symptom burden in patients with acute myeloid leukemia

scientific article published on 3 February 2018

Author Correction: Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer

scientific article published in Nature Communications

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences

scientific article published on 01 February 2019

Author Correction: Mutations in the SWI/SNF complex induce a targetable dependence on oxidative phosphorylation in lung cancer

scientific article published on 01 October 2018

AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes

scientific article published on 7 May 2007

BRAF and RAS mutations in human lung cancer and melanoma

scientific article published on 01 December 2002

BRCA 1 and 2--A Genetic Link to Familial Breast and Ovarian Cancer

scientific article published on 01 February 1997

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1

scientific article

BRCA1 expression is induced before DNA synthesis in both normal and tumor-derived breast cells.

scientific article

BRCA1 expression is not directly responsive to estrogen

scientific article published in January 1997

BRCA1 mutations in primary breast and ovarian carcinomas

scientific article published in October 1994

BRCA2 mutations in primary breast and ovarian cancers

scientific article

Backseat drivers take the wheel

scientific article published on December 2007

Bcl10 is not a target for frequent mutation in human carcinomas

scientific article published on July 1999

Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration

scientific article published on 26 September 2016

Breast cancer genome heterogeneity: a challenge to personalised medicine?

scientific article

C-kit gene mutations in adenoid cystic carcinoma are rare

scientific article

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

scientific article

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

scientific article

COSMIC 2005

scientific article

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

scientific article

COSMIC: the catalogue of somatic mutations in cancer.

scientific article published on 19 September 2011

Cancer Genomics in Clinical Context

scientific article

Cancer and genomics

scientific article

Cancer genomics: from discovery science to personalized medicine

scientific article published on 01 March 2011

Cancer: understanding the target

scientific article published in July 2004

Cell cycle control of BRCA2

scientific article published on 01 October 1996

Characterization of the rat and mouse homologues of the BRCA2 breast cancer susceptibility gene ⬇️

scientific article published on August 1, 1997

Chromosomal instability confers intrinsic multidrug resistance.

scientific article

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

scientific article published on 21 May 2007

Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer

scientific article published in Nature Communications

Clearance of Somatic Mutations at Remission and the Risk of Relapse in Acute Myeloid Leukemia

scientific article published on 27 April 2018

Clinical implications of TP53 mutations in myelodysplastic syndromes treated with hypomethylating agents

scientific article published on 09 February 2016

Clinical implications of cancer gene mutations in patients with chronic lymphocytic leukemia treated with lenalidomide

scientific article

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

scientific article

Clonal evolution of acute myeloid leukemia relapsed after 19 years of remission

scientific article published on July 2015

Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics

scientific article published on 21 October 2020

Co-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities

scientific article

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

scientific article

Comparative genomics of high grade neuroendocrine carcinoma of the cervix

scientific article published on 16 June 2020

Complex landscapes of somatic rearrangement in human breast cancer genomes

scientific article

Comprehensive T cell repertoire characterization of non-small cell lung cancer

scientific article published on 30 January 2020

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

scientific article (publication date: October 2001)

Copy number alterations detected as clonal hematopoiesis of indeterminate potential

scientific article published on 19 June 2017

Correction: Distinct co-acquired alterations and genomic evolution during TKI treatment in non-small-cell lung cancer patients with or without acquired T790M mutation

scientific article published on 01 February 2020

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

scientific article published on 22 April 2010

Corrigendum: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

scientific article published in Nature

Critical questions in ovarian cancer research and treatment: Report of an American Association for Cancer Research Special Conference

article

Cross-site concordance evaluation of tumor DNA and RNA sequencing platforms for the CIMAC-CIDC network

scientific article published on 15 December 2020

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

scientific article

DNA methylation intratumor heterogeneity in localized lung adenocarcinomas

scientific article published on March 2017

Data mining using the Catalogue of Somatic Mutations in Cancer BioMart

scientific article

Decoupling Lineage-Associated Genes in Acute Myeloid Leukemia Reveals Inflammatory and Metabolic Signatures Associated With Outcomes

scientific article published on 04 August 2021

Deep sequencing of circulating tumor DNA detects molecular residual disease and predicts recurrence in gastric cancer

scientific article published on 11 May 2020

Detection of BRCA1 mutations in women with early-onset ovarian cancer by use of the protein truncation test

scientific article

Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms

scientific article published on 01 May 1992

Dideoxy fingerprinting assay forBRCA1 mutation analysis ⬇️

scientific article published on July 1, 1997

Differential and limited expression of mutant alleles in multiple myeloma

scientific article

Dinucleotide repeat polymorphism in the THRA1 gene

scientific article published on April 1, 1992

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

scientific article published on 05 February 2020

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

scientific article

Distinct co-acquired alterations and genomic evolution during TKI treatment in non-small-cell lung cancer patients with or without acquired T790M mutation

scientific article published on 21 November 2019

Distinct molecular and immune hallmarks of inflammatory arthritis induced by immune checkpoint inhibitors for cancer therapy

scientific article published on 12 April 2022

Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion

scientific article published on 24 June 2015

Ductal carcinoma in situ: to treat or not to treat, that is the question

scientific article published on 09 July 2019

Effect of Smoking on Breast Cancer in Carriers of Mutant BRCA1 or BRCA2 Genes

article

Effect of antibiotics on gut and vaginal microbiomes associated with cervical cancer development in mice

scientific article published on 11 September 2020

Efficacy and predictors of response of lenalidomide and rituximab in patients with treatment-naive and relapsed CLL

scientific article published on 01 May 2019

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

scientific article

Emerging patterns of somatic mutations in cancer

scientific article

Erratum: Corrigendum: Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

scholarly article by Colin S Cooper et al published June 2015 in Nature Genetics

Erratum: Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

scholarly article published in Nature Genetics

Erratum: Corrigendum: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scholarly article published in Nature Genetics

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Erratum: Identification of the breast cancer susceptibility gene BRCA2

scientific article published in Nature

Estimation of rearrangement phylogeny for cancer genomes

scientific article

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

scientific article published on 27 April 2016

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

scientific article

Evidence for two senescence loci on human chromosome 1.

scientific article published on May 1996

Evolution of DNA methylome from precancerous lesions to invasive lung adenocarcinomas

scientific article published on 29 January 2021

Evolution of genomic and T cell repertoire heterogeneity of malignant pleural mesothelioma under dasatinib treatment

scientific article published on 14 August 2020

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

scientific article

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

scientific article

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

scientific article published on 01 May 2012

Exome sequencing of liver fluke-associated cholangiocarcinoma

scientific article published on 06 May 2012

Failure of senescent cells to phosphorylate the RB protein

scientific article published on July 1, 1991

Familial breast-ovarian cancer syndromes: BRCA1 and BRCA2.

scientific article published on March 1998

Features of non-activation dendritic state and immune deficiency in blastic plasmacytoid dendritic cell neoplasm (BPDCN)

scientific article published on 06 December 2019

Feedback circuit among INK4 tumor suppressors constrains human glioblastoma development

scientific article

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

scientific article

Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families

scientific article

Frequency of germline and somatic BRCA1 mutations in ovarian cancer ⬇️

scientific article published on 01 October 1998

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

scientific article

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

scientific article published on 16 June 2013

FusionPathway: Prediction of pathways and therapeutic targets associated with gene fusions in cancer.

scientific article published on 24 July 2018

Future cancer research priorities in the USA: a Lancet Oncology Commission

scientific article published on 31 October 2017

GLO1-A novel amplified gene in human cancer

scientific article

Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer

scientific article

Genetic and molecular basis for cellular senescence.

scientific article published in January 1993

Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing

scientific article

Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma

scientific article published on 01 October 2019

Genetic screens using the piggyBac transposon

scientific article (publication date: April 2011)

Genetic susceptibility testing and prophylactic oophorectomy

scientific article

Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer

scientific article published in February 2012

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool

scientific article

Genomic Landscape of Atypical Adenomatous Hyperplasia Reveals Divergent Modes to Lung Adenocarcinoma

scientific article published on 26 September 2017

Genomic Profiling of Multifocal Intrahepatic Cholangiocarcinoma Reveals Intraindividual Concordance of Genetic Alterations

scientific article published on 17 November 2020

Genomic Rearrangement Signatures and Clinical Outcomes in High-Grade Serous Ovarian Cancer

scientific article published in March 2018

Genomic alterations link Rho family of GTPases to the highly invasive phenotype of pancreas cancer

scholarly article

Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer

scientific article published on 09 June 2022

Genomic and immune heterogeneity are associated with differential responses to therapy in melanoma.

scientific article

Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

scientific article

Genomic assessment distinguishes intrapulmonary metastases from synchronous primary lung cancers

scientific article published on 01 May 2020

Genomic heterogeneity of multiple synchronous lung cancer

scientific article published on 21 October 2016

Genomic landscape of allelic imbalance in premalignant atypical adenomatous hyperplasias of the lung

Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin.

scientific article published on 2 April 2018

Genomics of Drug Sensitivity in Cancer (GDSC): a resource for therapeutic biomarker discovery in cancer cells

scientific article

Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer

scientific article published on 23 December 2019

Germline DNMT3A mutation in familial acute myeloid leukaemia

scientific article published on 28 August 2020

Global analysis of shared T cell specificities in human non-small cell lung cancer enables HLA inference and antigen discovery

scientific article published on 01 March 2021

Growth and transformation suppressor genes for BHK Syrian hamster cells on human chromosomes 1 and 11.

scientific article published on January 1992

Gut microbiome modulates response to anti-PD-1 immunotherapy in melanoma patients.

scientific article published on 2 November 2017

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma

scientific article published on January 2014

High frequency of hypermethylation at the 14-3-3 sigma locus leads to gene silencing in breast cancer

scientific article published on May 2000

High prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer

scientific article published on 01 October 2018

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison

scientific article

High-resolution analysis of DNA copy number using oligonucleotide microarrays

scientific article published on February 2004

High-throughput single-cell DNA sequencing of acute myeloid leukemia tumors with droplet microfluidics

article by Maurizio Pellegrino et al published September 2018 in Genome Research

Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer

scientific article

Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer

scientific article published on 01 November 2016

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

scientific article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

scientific article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

scientific article published on 16 August 2012

Identification of a new subclass of Alu DNA repeats which can function as estrogen receptor-dependent transcriptional enhancers

scientific article

Identification of a novel fusion gene, IRF2BP2-RARA, in acute promyelocytic leukemia

scientific article published on January 2015

Identification of double-stranded genomic DNA spanning all chromosomes with mutated KRAS and p53 DNA in the serum exosomes of patients with pancreatic cancer

scientific article

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma

scientific article published on 07 November 2019

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

scientific article

Identification of two distinct deleted regions on chromosome 13 in prostate cancer

scientific article published on 01 January 1998

Immune and Circulating Tumor DNA Profiling After Radiation Treatment for Oligometastatic Non-Small Cell Lung Cancer: Translational Correlatives from a Mature Randomized Phase II Trial

scientific article published on 31 October 2019

Immuno-genomic landscape of osteosarcoma

scientific article published on 21 February 2020

Impact of the number of mutations in survival and response outcomes to hypomethylating agents in patients with myelodysplastic syndromes or myelodysplastic/myeloproliferative neoplasms

scientific article published on 3 January 2018

Improving the detection of patients with inherited predispositions to hematologic malignancies using next-generation sequencing-based leukemia prognostication panels

scientific article published on 06 April 2018

In vitro differential sensitivity of melanomas to phenothiazines is based on the presence of codon 600 BRAF mutation

scientific article published on 04 June 2008

Integrated molecular analysis of tumor biopsies on sequential CTLA-4 and PD-1 blockade reveals markers of response and resistance.

scientific article

Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes

scientific article published in Nature Communications

Interleukin-8 mediates resistance to antiangiogenic agent sunitinib in renal cell carcinoma

scientific article published on 26 January 2010

International network of cancer genome projects

scientific article

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

scientific article (publication date: 8 March 2012)

Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing

scientific article published in October 2014

Intratumor heterogeneity: seeing the wood for the trees

scientific article

Investigation of the role of G1/S cell cycle mediators in cellular senescence

scientific article

Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region on 17q21 by solution hybrid capture

scientific article

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

scientific article

K-ras mutations in Müllerian inclusion cysts associated with serous borderline tumors of the ovary

scientific article

KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary.

scientific article

LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition

scientific article published in January 2009

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

scientific article

Late relapse in acute myeloid leukemia (AML): clonal evolution or therapy-related leukemia?

scholarly article by Musa Yilmaz et al published 16 January 2019 in Blood Cancer Journal

Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia

scientific article published on 10 May 2021

Lineage-coupled clonal capture identifies clonal evolution mechanisms and vulnerabilities of BRAFV600E inhibition resistance in melanoma

scientific article published in 2022

Linkage analysis in German breast cancer families with early onset of the disease, using highly polymorphic markers from the chromosome 17q11-q24 region

scientific article

Linking Associations of Rare Low-Abundance Species to Their Environments by Association Networks.

scientific article

Local mutational diversity drives intratumoral immune heterogeneity in non-small cell lung cancer

scientific article published in Nature Communications

Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1.

scientific article

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

scientific article

Longitudinal single-cell profiling reveals molecular heterogeneity and tumor-immune evolution in refractory mantle cell lymphoma

scientific article published on 17 May 2021

Loss of IFN-γ Pathway Genes in Tumor Cells as a Mechanism of Resistance to Anti-CTLA-4 Therapy

scientific article published on 09 September 2016

Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment

scientific article

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

scientific article (publication date: May 2002)

Lung cancer: intragenic ERBB2 kinase mutations in tumours

scientific article

MAGE-A3 is a Clinically Relevant Target in Undifferentiated Pleomorphic Sarcoma/Myxofibrosarcoma

scientific article published on 15 May 2019

MYC protein expression is an important prognostic factor in acute myeloid leukemia

scientific article published on 09 May 2018

Managing Clonal Hematopoiesis in Patients With Solid Tumors

scientific article published on 07 November 2018

Managing hereditary ovarian cancer risk

scientific article

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

scientific article

Metabolic reprogramming toward oxidative phosphorylation identifies a therapeutic target for mantle cell lymphoma

scientific article published on 01 May 2019

Microsomal epoxide hydrolase polymorphism as a risk factor for ovarian cancer

scientific article published on 01 November 1996

Mining cancer genomes in COSMIC.

scientific article published in October 2012

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

scientific article

Molecular Analysis of Clinically Defined Subsets of High-Grade Serous Ovarian Cancer

scientific article published on 01 April 2020

Molecular Profiling Reveals Unique Immune and Metabolic Features of Melanoma Brain Metastases

scientific article published on 20 February 2019

Molecular and immune heterogeneity in synchronous melanoma metastases.

scientific article published on 4 November 2015

MuSE: accounting for tumor heterogeneity using a sample-specific error model improves sensitivity and specificity in mutation calling from sequencing data

scientific article

Multi-region exome sequencing reveals genomic evolution from preneoplasia to lung adenocarcinoma

scientific article published on 05 July 2019

Multi-site desmoplastic small round cell tumors are genetically related and immune-cold

scientific article published on 04 April 2022

Multifactorial Deep Learning Reveals Pan-Cancer Genomic Tumor Clusters with Distinct Immunogenomic Landscape and Response to Immunotherapy

scientific article published on 07 January 2020

Multiomic analysis and immunoprofiling reveal distinct subtypes of human angiosarcoma

scientific article published on 05 October 2020

Multiomics profiling of primary lung cancers and distant metastases reveals immunosuppression as a common characteristic of tumor cells with metastatic plasticity

scientific article published on 04 November 2020

Multiplex profiling of peritoneal metastases from gastric adenocarcinoma identified novel targets and molecular subtypes that predict treatment response

scientific article published on 06 June 2019

Multiregion gene expression profiling reveals heterogeneity in molecular subtypes and immunotherapy response signatures in lung cancer

scientific article

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families

scientific article published in May 1996

Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line

scientific article published on April 1994

Mutation of the PTEN tumor suppressor gene in endometrial hyperplasias ⬇️

scientific article published on June 15, 1998

Mutation of thePTENTumor Suppressor Gene Is Not a Feature of Ovarian Cancers ⬇️

scientific article published on July 1, 1998

Mutational processes molding the genomes of 21 breast cancers

scientific article

Mutational signatures of ionizing radiation in second malignancies

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

scientific article

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation

scientific article

Mutations in the SWI/SNF complex induce a targetable dependence on oxidative phosphorylation in lung cancer

scientific article published on 11 June 2018

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

scientific article

Mutations of the BRAF gene in human cancer

scientific article (publication date: 27 June 2002)

Neoadjuvant Chemotherapy Increases Cytotoxic T cell, Tissue Resident Memory T cell and B Cell Infiltration in Resectable Non-Small Cell Lung Cancer

scientific article published on 20 October 2020

Neoadjuvant PD-L1 plus CTLA-4 blockade in patients with cisplatin-ineligible operable high-risk urothelial carcinoma

scientific article published on 12 October 2020

Neoadjuvant nivolumab or nivolumab plus ipilimumab in operable non-small cell lung cancer: the phase 2 randomized NEOSTAR trial

scientific article published on 18 February 2021

Neoantigen responses, immune correlates, and favorable outcomes after ipilimumab treatment of patients with prostate cancer

scientific article published on 01 April 2020

Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations

scientific article published on 2 December 2015

Novel algorithmic approach predicts tumor mutation load and correlates with immunotherapy clinical outcomes using a defined gene mutation set.

scientific article

Novel chromosomal rearrangements and break points at the t(6;9) in salivary adenoid cystic carcinoma: association with MYB-NFIB chimeric fusion, MYB expression, and clinical outcome

scientific article published on 5 October 2011

Novel consensus DNA‐binding sequence for BRCA1 protein complexes ⬇️

scientific article (publication date: October 2003)

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

scientific article

Oncogenic Kras drives invasion and maintains metastases in colorectal cancer.

scientific article published on 13 March 2017

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

scientific article

Overexpressed PRAME is a potential immunotherapy target in sarcoma subtypes

scientific article

PPM1D Mutations Drive Clonal Hematopoiesis in Response to Cytotoxic Chemotherapy

scientific article

PRDM16s transforms megakaryocyte-erythroid progenitors into myeloid leukemia-initiating cells

scientific article published on 03 July 2019

Pathogenic mutations and overall survival in 3,084 patients with cancer: the Hellenic Cooperative Oncology Group Precision Medicine Initiative

scientific article published on 07 January 2020

Patient-reported fatigue prior to treatment is prognostic of survival in patients with acute myeloid leukemia

scientific article published on 27 July 2018

Patterns of somatic mutation in human cancer genomes

scientific article (publication date: 8 March 2007)

Phase I Trial of a Selective c-MET Inhibitor ARQ 197 Incorporating Proof of Mechanism Pharmacodynamic Studies

scientific article published on 07 March 2011

Phase I trial of the irreversible EGFR and HER2 kinase inhibitor BIBW 2992 in patients with advanced solid tumors

scientific article published on 2 August 2010

Polygenic in vivo validation of cancer mutations using transposons

scientific article

Pre-counseling education materials for BRCA testing: does tailoring make a difference?

scientific article published on 01 January 2002

Pre-existing Functional Heterogeneity of Tumorigenic Compartment as the Origin of Chemoresistance in Pancreatic Tumors

scientific article published on 01 February 2019

Predictive biomarker discovery through the parallel integration of clinical trial and functional genomics datasets

scientific article

Preleukaemic clonal haemopoiesis and risk of therapy-related myeloid neoplasms: a case-control study

scientific article published on 02 December 2016

Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients in Canada

scientific article published in April 2000

Prevalence of recurrent oncogenic fusion in mismatch repair-deficient colorectal carcinoma with hypermethylated MLH1 and wild-type BRAF and KRAS

scientific article published on 05 February 2019

Processed pseudogenes acquired somatically during cancer development

scientific article published on 09 April 2014

Programmed Death Ligand 1 Heterogeneity and its Impact on Benefit from Immune Checkpoint Inhibitors in Non-Small-Cell Lung Cancer

scientific article published on 07 May 2020

Proteogenomic Analysis of Salivary Adenoid Cystic Carcinomas Defines Molecular Subtypes and Identifies Therapeutic Targets

scientific article published on 10 November 2020

Publisher Correction: Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics

scientific article published on 19 November 2020

RNA editing of human microRNAs

scientific article published on 4 April 2006

RUNX1-targeted therapy for AML expressing somatic or germline mutation in RUNX1

scientific article published on 25 April 2019

Recurrent KRAS codon 146 mutations in human colorectal cancer

scientific article published on August 2006

Recurrent PTPRB and PLCG1 mutations in angiosarcoma

scientific article

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

scientific article

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

scientific article

Role of BRCA1 mutation screening in the management of familial ovarian cancer

scientific article published on September 1996

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

scientific article published on 13 March 2008

Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations

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Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

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Sequencing analysis of BRAF mutations in human cancers

scientific article published on 01 January 2006

Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets

scientific article published on 16 April 2018

Signatures of mutation and selection in the cancer genome

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Signatures of mutational processes in human cancer

scientific article (publication date: 22 August 2013)

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

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Single-cell dissection of intratumoral heterogeneity and lineage diversity in metastatic gastric adenocarcinoma

scientific article published on 04 January 2021

Single-cell paired-end genome sequencing reveals structural variation per cell cycle

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Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

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Somatic mutation distributions in cancer genomes vary with three-dimensional chromatin structure

scientific article published on 05 October 2020

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

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Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

Somatic structural rearrangements in genetically engineered mouse mammary tumors

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Spatially resolved analyses link genomic and immune diversity and reveal unfavorable neutrophil activation in melanoma

scientific article published on 15 April 2020

Spatio-Temporal Genomic Heterogeneity, Phylogeny, and Metastatic Evolution in Salivary Adenoid Cystic Carcinoma.

scientific article published in October 2017

State of the science: an update on renal cell carcinoma

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Statistical analysis of pathogenicity of somatic mutations in cancer

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Statistical tests for intra-tumour clonal co-occurrence and exclusivity

scientific article published on 15 December 2021

Stella-Cre mice are highly efficient Cre deleters

scientific article published on 22 July 2011

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

Systematic identification of genomic markers of drug sensitivity in cancer cells

scientific article (publication date: 28 March 2012)

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

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T CELL REPERTOIRE IN COMBINATION WITH T CELL DENSITY PREDICTS CLINICAL OUTCOMES IN PATIENTS WITH MERKEL CELL CARCINOMA

scientific article published on 15 April 2020

T(6;14)(q25;q32) involves BCL11B and is highly associated with mixed-phenotype acute leukemia, T/myeloid

scientific article published on 25 February 2020

TCR Repertoire Intratumor Heterogeneity in Localized Lung Adenocarcinomas: An Association with Predicted Neoantigen Heterogeneity and Postsurgical Recurrence.

scientific article published on 21 July 2017

Tandem duplication of chromosomal segments is common in ovarian and breast cancer genomes

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Targeted Tissue and Cell-Free Tumor DNA Sequencing of Advanced Lung Squamous-Cell Carcinoma Reveals Clinically Significant Prevalence of Actionable Alterations

Targeted next generation sequencing of well-differentiated/dedifferentiated liposarcoma reveals novel gene amplifications and mutations.

scientific article published on 13 April 2018

Testing for hereditary breast and ovarian cancer in the southeastern United States

scientific article published on 01 May 2000

The BRAF gene is frequently mutated in malignant melanoma

scientific article published on 01 September 2004

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

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The Catalogue of Somatic Mutations in Cancer (COSMIC)

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The Life History of 21 Breast Cancers

The Prognostic and Therapeutic Role of Genomic Subtyping by Sequencing Tumor or Cell-Free DNA in Pulmonary Large-Cell Neuroendocrine Carcinoma

scientific article published on 06 November 2019

The SMARCA2/4 ATPase Domain Surpasses the Bromodomain as a Drug Target in SWI/SNF-Mutant Cancers: Insights from cDNA Rescue and PFI-3 Inhibitor Studies

scientific article published on 2 July 2015

The SS18-SSX Fusion Oncoprotein Hijacks BAF Complex Targeting and Function to Drive Synovial Sarcoma

scientific article published on 31 May 2018

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

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The androgen receptor is a therapeutic target in desmoplastic small round cell sarcoma

scientific article published on 01 June 2022

The cancer genome

scientific article (publication date: 9 April 2009)

The circular RNome of primary breast cancer

scientific article published on 28 January 2019

The continuing search for cancer-causing somatic mutations

scientific article published on January 2007

The driver landscape of sporadic chordoma

scientific article published on 12 October 2017

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

scientific article

The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics

scientific article published on 06 December 2021

The human mammary-derived growth inhibitor (MDGI) gene: genomic structure and mutation analysis in human breast tumors

scientific article

The landscape of cancer genes and mutational processes in breast cancer

scientific article (publication date: 16 May 2012)

The landscape of genetic mutations in patients with chronic lymphocytic leukaemia and complex karyotype

scientific article published on 25 July 2019

The life history of 21 breast cancers

scientific article (publication date: 25 May 2012)

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

scientific article published on 16 March 2007

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2

scientific article published on 01 March 2000

The patterns and dynamics of genomic instability in metastatic pancreatic cancer

scientific article (publication date: 28 October 2010)

The somatic mutation landscape of premalignant colorectal adenoma.

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The topography of mutational processes in breast cancer genomes

scientific article published on 02 May 2016

Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal

scientific article published on 4 April 2018

Toll-like receptor 4: a target for chemoprevention of hepatocellular carcinoma in obesity and steatohepatitis

scientific article published on 29 June 2018

Use of cancer-specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumors

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Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

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Whole exome sequencing of adenoid cystic carcinoma

scientific article published on 17 June 2013

Whole genome DNA copy number changes identified by high density oligonucleotide arrays

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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

scientific article (publication date: 5 June 2011)

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

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