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List of works by Ian Tomlinson

'Toxgnostics': an unmet need in cancer medicine

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

7q deletion mapping and expression profiling in uterine fibroids.

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

scientific article published on June 2016

A basal gradient of Wnt and stem-cell number influences regional tumour distribution in human and mouse intestinal tracts

scientific article (publication date: 2013)

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

scientific article

A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.

scientific article

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

scientific article published on 30 October 2011

A comparison of the genetic pathways involved in the pathogenesis of three types of colorectal cancer

scientific article published in February 1998

A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history

scientific article published in January 2005

A comprehensive genetic profile of phyllodes tumours of the breast detects important mutations, intra-tumoral genetic heterogeneity and new genetic changes on recurrence

scientific article published in April 2008

A comprehensive study of chromosome 16q in invasive ductal and lobular breast carcinoma using array CGH.

scientific article published on 15 May 2006

A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?

scientific article published on 15 June 2007

A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21

article

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

scientific article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

scientific article published on 19 September 2010

A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci

article

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.

scientific article published on 12 November 2013

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

article

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk

scientific article

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.

scientific article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

scientific article

A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk

scientific article published on 10 June 2009

A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36

scientific article

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 20 May 2015

A nonlinear mathematical model of cell turnover, differentiation and tumorigenesis in the intestinal crypt

scientific article published on 8 September 2006

A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family

scientific article published on 01 January 2006

A novel test for gene-ancestry interactions in genome-wide association data

scientific article

A panoply of errors: polymerase proofreading domain mutations in cancer

scientific article

A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map

scientific article published on 01 August 1996

A polymorphic enhancer near GREM1 influences bowel cancer risk through differential CDX2 and TCF7L2 binding

scientific article published on 14 August 2014

A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection

scientific article

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

scientific article published on 15 December 2020

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

scientific journal article

A study of genomic instability in early preneoplastic colonic lesions ⬇️

scientific article published on December 17, 2012

A systematic review and meta-analysis of somatic and germline DNA sequence biomarkers of esophageal cancer survival, therapy response and stage

scientific article

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

scientific article

APC and the three-hit hypothesis

scientific article published on 6 October 2008

APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polyps

scientific article

APC mutations are sufficient for the growth of early colorectal adenomas

scholarly article

APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

scientific article published on 29 November 2006

APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits"

scientific article

AT-43MULTI-CENTRE, RANDOMIZED, DOUBLE-BLIND PHASE II STUDY COMPARING CEDIRANIB (AZD2171) PLUS GEFITINIB (IRESSA, ZD1839) WITH CEDIRANIB PLUS PLACEBO IN SUBJECTS WITH RECURRENT/PROGRESSIVE GLIOBLASTOMA

Aberrant epithelial GREM1 expression initiates colonic tumorigenesis from cells outside the stem cell niche

scientific article published on December 2014

Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma.

scientific article published on 07 September 2006

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status

scientific article

Abstract P3-08-04: Impact of CYP3A variation on estrone levels and breast cancer risk

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations

scientific article published on 29 June 2005

Adjuvant capecitabine plus bevacizumab versus capecitabine alone in patients with colorectal cancer (QUASAR 2): an open-label, randomised phase 3 trial

scientific article published on 19 September 2016

Adjuvant treatment for POLE proofreading domain-mutant cancers: sensitivity to radiotherapy, chemotherapy, and nucleoside analogs.

scientific article published on 20 March 2018

Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations

scientific article published on 06 June 2006

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours.

scientific article published on April 1999

Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.

scientific article published in August 1997

Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability

scientific article

Allele loss on chromosome 11q and microsatellite instability in malignant melanoma

scientific article published on 01 September 1996

Allele loss, replication errors and loss of expression of E-cadherin in colorectal cancers

scientific article published on May 1997

Allelic imbalance analysis of chromosome 16q shows that grade I and grade III invasive ductal breast cancers follow different genetic pathways ⬇️

scientific article published on 01 January 2002

Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence

scientific article

Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium

Allelic loss studies do not provide evidence for the "endometriosis-as-tumor" theory

scientific article

An FBXW7-ZEB2 axis links EMT and tumour microenvironment to promote colorectal cancer stem cells and chemoresistance

scientific article published on 19 February 2019

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

scientific article

An evaluation of the clinical utility of a panel of variants in DPYD and ENOSF1 for predicting common capecitabine related toxicities

scientific article published on 01 June 2018

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

An update on the genetics of colorectal cancer

scientific article published in October 2004

Analyses of 7,635 Patients with Colorectal Cancer Using Independent Training and Validation Cohorts Show That rs9929218 in CDH1 Is a Prognostic Marker of Survival ⬇️

scientific article published on 14 April 2015

Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases

scientific article published in February 2004

Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC.

scholarly article

Analysis of copy number changes suggests chromosomal instability in a minority of large colorectal adenomas

scientific article

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

scientific article

Analysis of ovarian cancer cell lines using array-based comparative genomic hybridization.

scientific article

Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families

scientific article

Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene?

scientific article published on January 2001

Are we there yet?

scientific article published on 03 May 2010

Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas

scientific article published on July 2004

Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma

scientific article published on 01 January 2005

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

scientific article published on 03 July 2020

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

scientific article published on 14 May 2019

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic

scientific article

Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study

scientific article published on 21 January 2014

Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis

scientific article published on 25 March 2008

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

scientific article

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

Attenuated familial adenomatous polyposis: results from an international collaborative study

scientific article

Author Correction: Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel

scientific article published on 01 June 2018

Author Correction: The effects of mutational processes and selection on driver mutations across cancer types

scientific article published on 20 April 2020

BCL9L Dysfunction Impairs Caspase-2 Expression Permitting Aneuploidy Tolerance in Colorectal Cancer

scientific article

BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations

scientific article published on 16 November 2012

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

Bcl-2 expression in colorectal tumors: evidence of different pathways in sporadic and ulcerative-colitis-associated carcinomas

scientific article published on November 1996

Beta-catenin abnormalities and associated insulin-like growth factor overexpression are important in phyllodes tumours and fibroadenomas of the breast

scientific article

Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis

scientific article

Beta-catenin mutations in cell lines established from human colorectal cancers

scientific article published on September 1997

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Bone morphogenetic protein and Notch signalling crosstalk in poor-prognosis, mesenchymal-subtype colorectal cancer.

scientific article published on 15 March 2017

Bottom-up histogenesis of colorectal adenomas: origin in the monocryptal adenoma and initial expansion by crypt fission

scientific article published on 01 July 2003

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast cancer dormancy can be maintained by small numbers of micrometastases.

scientific article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study

scientific article published on 30 September 2011

British Society of Gastroenterology position statement on serrated polyps in the colon and rectum

scientific article

CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population

scientific article published on 25 March 2008

CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer

scientific article published on 24 June 2013

CD24 is upregulated in inflammatory bowel disease and stimulates cell motility and colony formation

scientific article

CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability

scientific article published in December 2005

CDC4/FBXW7 and the 'just enough' model of tumourigenesis

scientific article published on 18 April 2012

CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers

scientific article published in May 2001

CLINICO-PATHOLOGICAL FEATURES AND p53 EXPRESSION IN LEFT-SIDED SPORADIC COLORECTAL CANCERS WITH AND WITHOUT MICROSATELLITE INSTABILITY

scientific article published on 01 August 1996

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

scientific article

CRISPR-Cas9 Causes Chromosomal Instability and Rearrangements in Cancer Cell Lines, Detectable by Cytogenetic Methods

scientific article published on 19 November 2019

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

scientific article

CYP3A variation, premenopausal estrone levels, and breast cancer risk

scientific article published on 3 April 2012

Cancer predisposition syndromes: lessons for truly precision medicine

scientific article published on 9 November 2016

Cancer: evolution within a lifetime

scientific article published on October 2014

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

scientific article published in February 2015

Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway

scientific article (publication date: 15 November 2003)

Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic Loci

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci

scientific article published in August 1998

Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism

scientific article published on 29 May 2012

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

scientific article

Chromatin organisation and cancer prognosis: a pan-cancer study

scientific article published on 2 February 2018

Chromosomal instability confers intrinsic multidrug resistance.

scientific article

Chromosomal instability, colorectal cancer and taxane resistance

scientific article

Chromosome 11q in sporadic colorectal carcinoma: patterns of allele loss and their significance for tumorigenesis

scientific article published on May 1996

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

scientific article published on 25 September 2008

Clinical and molecular features of the hereditary mixed polyposis syndrome

scientific article published on 01 February 1997

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

scientific article

Clinical features and molecular analysis of a family with multiple colon tumours and reduced plasminogen activator activity

scientific article published on 01 January 1997

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome

scientific article published on 01 February 2005

Clinical management of hereditary colorectal cancer syndromes

scientific article published on 13 January 2015

Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.

scientific article published on October 2016

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data

scientific article

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

scientific article published on 2 April 2018

Clonality Assessment and Clonal Ordering of Individual Neoplastic Crypts Shows Polyclonality of Colorectal Adenomas

scientific article published on 25 January 2010

Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations

scientific article published on 18 March 2016

Colorectal Cancer Risk Is Not Associated with Increased Levels of Homozygosity in a Population from the United Kingdom

article

Colorectal cancer and genetic alterations in the Wnt pathway

scientific article

Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer

scientific article published on 22 April 2014

Colorectal carcinomas arising in the hyperplastic polyposis syndrome progress through the chromosomal instability pathway

scientific article published on August 2000

Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract

scientific article (publication date: 2014)

Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy?

scientific article

Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers

scientific article published on April 2006

Common Variants Confer Susceptibility to Barrett's Esophagus: Insights from the First Genome-Wide Association Studies

scientific article

Common breast cancer susceptibility loci are associated with triple-negative breast cancer

scientific article published on 15 August 2011

Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.

scientific article

Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.

scientific article

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

scientific article published on 16 December 2007

Common genetic variation contributes significantly to the risk of childhood B-cell precursor acute lymphoblastic leukemia

scientific article published on 29 March 2012

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Common variants at 19p13 are associated with susceptibility to ovarian cancer

scientific article

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk

scientific journal article

Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK.

scientific article published on 5 March 2009

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers

scientific article published on October 2001

Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk

scientific article published on 02 December 2008

Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition

scientific article

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

scientific article published in October 2015

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma

scientific article published on 01 October 2003

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Correspondence: SEMA4A variation and risk of colorectal cancer

scientific article

Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

scientific article published on 10 October 2014

Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

scholarly article

Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing

scientific article published on 30 November 2014

CpG island methylation is a common finding in colorectal cancer cell lines

scientific article published on February 2003

Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer. ⬇️

scientific article published in January 2018

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

scientific article published on 05 April 2012

Current morphologic criteria perform poorly in identifying hereditary leiomyomatosis and renal cell carcinoma syndrome-associated uterine leiomyomas

scientific article published on 01 November 2014

Cyclin D1 is not an essential target of beta-catenin signaling during intestinal tumorigenesis, but it may act as a modifier of disease severity in multiple intestinal neoplasia (Min) mice

scientific article published on 01 August 2002

DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers

scientific article published on December 2008

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

scientific article published on April 2003

DNA mismatch repair in lymphoblastoid cells from hereditary non-polyposis colorectal cancer (HNPCC) patients is normal under conditions of rapid cell division and increased mutational load

scientific article published in March 1997

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

scientific article

Deciphering the 8q24.21 association for glioma

scientific article published on 11 February 2013

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

scientific article published on 30 July 2013

Deciphering the genetics of hereditary non-syndromic colorectal cancer

scientific article published on 16 July 2008

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours

scientific article published on January 1998

Defects in mismatch repair occur afterAPC mutations in the pathogenesis of sporadic colorectal tumours

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

article

Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization

scientific article published on December 2005

Detailed Molecular and Immune Marker Profiling of Archival Prostate Cancer Samples Reveals an Inverse Association between TMPRSS2:ERG Fusion Status and Immune Cell Infiltration

scientific article published on 27 March 2020

Detecting low penetrance genes in cancer: the way ahead

scientific article

Detecting repeated cancer evolution from multi-region tumor sequencing data

scientific article published on 31 August 2018

Different APC genotypes in proximal and distal sporadic colorectal cancers suggest distinct WNT/β-catenin signalling thresholds for tumourigenesis.

scientific article published on 22 October 2012

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy

scientific article published on 5 April 2016

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

scientific article published on 4 February 2006

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids

scientific article published on 30 November 2005

Does MSI-low exist?

scientific article

Down-regulation of serum/glucocorticoid regulated kinase 1 in colorectal tumours is largely independent of promoter hypermethylation

scientific article

E-cadherin/catenin complex status in solid pseudopapillary tumor of the pancreas

scientific article published on 01 January 2008

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis

scientific article published in June 2006

Ectopic expression of P-cadherin correlates with promoter hypomethylation early in colorectal carcinogenesis and enhanced intestinal crypt fission in vivo.

scientific article published on October 2008

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort

scientific article published on 20 October 2009

Erratum to: Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis

scientific article published on 28 May 2016

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 3 August 2015

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: Replication stress links structural and numerical cancer chromosomal instability

scientific article published in Nature

Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

scientific article published in June 2013

Evaluation of PIK3CA mutation as a predictor of benefit from nonsteroidal anti-inflammatory drug therapy in colorectal cancer

scientific article

Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies

scientific article

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort

scientific article

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility

scientific article published on 01 December 2006

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan

article

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan

article

Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.

scientific article

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

scientific article published on 25 July 2017

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

scientific article published on 12 October 2017

Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation

scientific article published on December 2004

Evidence of Linkage to Chromosome 9q22.33 in Colorectal Cancer Kindreds from the United Kingdom

article

Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome

scientific article published in January 2005

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Evolutionary history of human colitis-associated colorectal cancer

article

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome

scientific article published on 01 November 1997

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency

scientific article

Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome

scientific article published on February 2005

Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes

scientific article published in January 2001

Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes

scientific article published on September 2002

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification

scientific article published on 28 September 2019

Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study

Expression Profiling of Proliferation and Apoptotic Markers along the Adenoma-Carcinoma Sequence in Familial Adenomatous Polyposis Patients ⬇️

scientific article published on February 13, 2013

Expression of EGFR, HER2, phosphorylated ERK and phosphorylated MEK in colonic neoplasms of familial adenomatous polyposis patients

scientific article published on 01 September 2012

Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations

scientific article published on 5 September 2006

Expression of Idh1(R132H) in the Murine Subventricular Zone Stem Cell Niche Recapitulates Features of Early Gliomagenesis

scientific article published on 21 September 2016

Expression of the cancer-associated DNA polymerase ε P286R in fission yeast leads to translesion synthesis polymerase dependent hypermutation and defective DNA replication

scientific article published on 06 July 2021

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis

scientific article published on 26 October 2010

F-box and WD repeat domain-containing 7 regulates intestinal cell lineage commitment and is a haploinsufficient tumor suppressor

scientific article published on 2 June 2010

FBXW7 influences murine intestinal homeostasis and cancer, targeting Notch, Jun, and DEK for degradation

scientific article

FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development

scientific journal article

FBXW7-mutated colorectal cancer cells exhibit aberrant expression of phosphorylated-p53 at Serine-15.

scientific article

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Failure of programmed cell death and differentiation as causes of tumors: some simple mathematical models

scientific article

Familial adenomatous polyposis and the small bowel: a loco-regional review and current management strategies

scientific article published on 06 June 2008

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

scientific article

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Five endometrial cancer risk loci identified through genome-wide association analysis

scientific article published on 02 May 2016

Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice

scientific article

Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer

scientific article published on 01 July 2019

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas

scientific article published in August 1997

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

From genome to proteome--aim of human proteomics.

scientific article published in October 2004

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

scientific article

GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer

scientific article published on 20 May 2015

GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer

scientific article published on 23 March 2016

General lessons from large-scale studies to identify human cancer predisposition genes

scientific article published on January 2010

Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis

scientific article

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

scientific article published on 22 August 2016

Genetic Susceptibility to Cancer

article

Genetic aberrations in glioblastoma multiforme: translocation of chromosome 10 in an O-2A-like cell line

scientific article published on February 1999

Genetic analysis of lobular carcinoma in situ and associated invasive lobular cancer

scientific article published on 18 May 2010

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

scientific article published on 01 June 2003

Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice

scientific article

Genetic determinants modulate susceptibility to pregnancy-associated tumourigenesis in a recombinant line of Min mice

scientific article

Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.

scientific article published in April 1996

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis

scientific article

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

scientific article published on 2 April 2018

Genetic pathways in colorectal and other cancers

scientific article

Genetic pathways in colorectal and other cancers

scientific article published on 01 December 1999

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic predisposition to mosaic Y chromosome loss in blood

scientific article published on 20 November 2019

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Genetic prognostic and predictive markers in colorectal cancer

scientific article published on 18 June 2009

Genetic prognostic markers in colorectal cancer ⬇️

scientific article published on December 1, 1997

Genetic susceptibility to Barrett's oesophagus: Lessons from early studies

scientific article

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled

scientific article published on 01 February 1997

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

scientific article

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

scientific article published on 30 November 2015

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genetics of inflammatory bowel disease and associated cancers

article

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

scientific article published in April 2003

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

scientific article published on 30 March 2008

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis ⬇️

scientific article

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

scientific article

Genome-wide association study identifies a possible susceptibility locus for endometrial cancer

scientific article

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk

Genomic instability--the engine of tumorigenesis?

scientific article published in September 2003

Genomic profiling identifies discrete deletions associated with translocations in glioblastoma multiforme.

scientific article published on April 2006

Genomic stability and tumorigenesis

scientific article

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

article

Germline CDH1 mutations in bilateral lobular carcinoma in situ

scientific article published on 24 December 2013

Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer

scientific article published on January 1997

Germline PTEN mutations in Cowden syndrome-like families.

scientific article

Germline RET variants underlie a subset of paediatric osteosarcoma

scientific article published on 16 March 2020

Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers ⬇️

scientific article published on June 1, 2013

Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.

scientific article published on 26 March 2015

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability

scientific article (publication date: December 2003)

Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer

scientific article published on 29 October 2010

Germline epimutations of APC are not associated with inherited colorectal polyposis

scientific article published on April 2006

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas ⬇️

scientific article

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.

scientific article published on May 2003

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

scientific article

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

scientific article

Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype

scientific article published in April 2003

Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients

scientific article

Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study

scientific article

Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma

scientific article published on 2 August 2016

Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma

scientific article published on 10 December 2020

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

scientific article published on 28 November 2019

HOT mutation screening in human glioblastomas

scientific article published on January 2015

Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase

scientific article

Hand-foot syndrome is a biomarker of improved survival following treatment with capecitabine

scientific article published on 01 July 2019

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

scientific article

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

scientific article published on 6 May 2012

High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders

scientific article published in February 2015

Histological phenotypic subtypes predict recurrence risk and response to adjuvant chemotherapy in patients with stage III colorectal cancer

scientific article published on 13 May 2020

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer

scientific article

How many mutations in a cancer?

scientific article published on March 2002

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Image-based consensus molecular subtype (imCMS) classification of colorectal cancer using deep learning

scientific article published on 20 July 2020

Implications of polygenic risk for personalised colorectal cancer screening

scientific article published on 16 November 2015

In situ analysis of LKB1/STK11 mRNA expression in human normal tissues and tumours

scientific article published on 01 October 2000

In-depth clinical and biological exploration of DNA Damage Immune Response (DDIR) as a biomarker for oxaliplatin use in colorectal cancer

scientific article published on 07 October 2020

Inherited susceptibility to colorectal adenomas and carcinomas: Evidence for a new predisposition gene on 15q14-q22

article

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations

scientific article published on 15 May 2007

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

scientific article published on 01 June 2010

Investigation of the atypical FBXW7 mutation spectrum in human tumours by conditional expression of a heterozygous propellor tip missense allele in the mouse intestines

scientific article (publication date: May 2014)

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer

scientific article published on March 2012

Is EXO1 a colon cancer predisposition gene?

article

KRAS Mutation Is Associated with Lung Metastasis in Patients with Curatively Resected Colorectal Cancer

scientific article published on 14 January 2011

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome

scientific article

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome

scientific article published in June 2003

Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation

scientific article

Linkage analysis of candidate regions for coeliac disease genes

scientific article published on 01 August 1997

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

scientific article

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

scientific article

Location in the large bowel influences the APC mutations observed in FAP adenomas

scientific article

Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia

scientific article

Loss of Bcl-2 expression correlates with tumour recurrence in colorectal cancer

scientific article

Loss of expression and promoter methylation of SLIT2 are associated with sessile serrated adenoma formation.

scientific article

Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN.

scientific article

Loss of heterozygosity analysis: practically and conceptually flawed?

scientific article

Low penetrance breast cancer predisposition SNPs are site specific

article

Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait ⬇️

scientific article published on 01 January 2002

Low-penetrance susceptibility variants in familial colorectal cancer

scientific article

MAJOR-GENE MODELS OF SEXUAL SELECTION UNDER CYCLICAL NATURAL SELECTION

scientific article published on 01 July 1988

MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.

scientific article published on December 2011

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours ⬇️

scientific article

MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer

article

MSI-low, a real phenomenon which varies in frequency among cancer types.

scientific article

Malignant phyllodes tumours show stromal overexpression of c-myc and c-kit

scientific article published on 01 May 2003

Management and 5-year outcomes in 9938 women with screen-detected ductal carcinoma in situ: the UK Sloane Project

scientific article published on 06 August 2018

Measuring single cell divisions in human tissues from multi-region sequencing data

scientific article published on 25 February 2020

Mechanisms of inactivation of mismatch repair genes in human colorectal cancer cell lines: the predominant role of hMLH1.

scientific article published on August 1999

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

scientific article published on 23 June 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

scientific article

Mendelian randomisation: A powerful and inexpensive method for identifying and excluding non-genetic risk factors for colorectal cancer

scientific article published on 04 February 2019

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

scientific article published on 13 July 2020

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

scientific article

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

scientific article

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

scientific article

Methylation changes in the TFAP2E promoter region are associated with BRAF mutation and poorer overall & disease free survival in colorectal cancer.

scientific article published on 23 March 2015

MicroRNA related polymorphisms and breast cancer risk

scientific article

Microsatellite instability and the clinicopathological features of sporadic colorectal cancer

scientific article

Microsatellite-stable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer

scientific article published on January 2001

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer

scientific article published in October 2005

Mitochondrial tumour suppressors: a genetic and biochemical update

scientific article

Modelling the consequences of interactions between tumour cells

scientific article published on January 1997

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis

scientific article published on 24 October 2019

Modifier genes in humans: strategies for identification

article

Molecular analysis of phyllodes tumors reveals distinct changes in the epithelial and stromal components

scientific article published on March 2000

Molecular characteristics of serrated adenomas of the colorectum

scientific article published on August 2002

Molecular classification and genetic pathways in hyperplastic polyposis syndrome

Molecular genetic evidence that endometriosis is a precursor of ovarian cancer

scientific article published on 01 August 2006

Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories

scientific article

Molecular testing for somatic mutations in common cancers: the views of UK oncologists

scientific article published on June 2008

Most low-level microsatellite instability in colorectal cancers can be explained without an elevated slippage rate

scientific article published in June 2008

Much of the Genetic Risk of Colorectal Cancer Is Likely to Be Mediated Through Susceptibility to Adenomas ⬇️

scientific article published on September 19, 2012

Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1

scientific article

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

scientific article (publication date: 27 February 2003)

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

scholarly article

Multiple ways of silencing E-cadherin gene expression in lobular carcinoma of the breast

scientific article published on 01 May 2001

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

scientific article

Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series

article

Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis

scientific article published on June 2002

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

scientific article

Mutations in Bcl10 are very rare in colorectal cancer

scientific article published in July 1999

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases

scientific article published in November 1998

Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas

scientific article (publication date: September 2014)

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

scientific article published in May 1998

Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia

scientific article published on May 2005

Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines

scientific article published on October 2006

Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice.

scientific article

Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies

scientific article published on 07 June 2018

No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study

scientific article published on 01 February 2019

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Novel MLH1 duplication identified in Colombian families with Lynch syndrome

scientific article published on 01 February 2011

Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study

scientific article published on 24 January 2011

Nuclear beta-catenin expression and Wnt signalling: in defence of the dogma

scientific article

O(6)-methylguanine methyltransferase in colorectal cancers: detection of mutations, loss of expression, and weak association with G:C>A:T transitions

scientific article

Optimising methods for determining RER status in colorectal cancers

scientific article published on 01 February 2000

Oral rapamycin reduces tumour burden and vascularization in Lkb1(+/-) mice.

scientific article published in September 2009

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

PHLDA1 expression marks the putative epithelial stem cells and contributes to intestinal tumorigenesis.

scientific article

POLE mutations in families predisposed to cutaneous melanoma

scientific article published on 7 August 2015

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

scientific article published on 17 March 2022

Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer

scientific article published on 01 August 2019

Pervasive chromosomal instability and karyotype order in tumour evolution

scientific article published on 02 September 2020

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3 ⬇️

scientific article published on January 1, 1998

Peutz-Jeghers syndrome

scientific article 1997

Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration

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Polyclonal origin of colonic adenomas in an XO/XY patient with FAP.

scientific article

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

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Polymorphisms and colorectal tumor risk

scientific article

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Polymorphisms in inflammation pathway genes and endometrial cancer risk

scientific article published on 5 December 2012

Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus ⬇️

scientific article

Population genetics of tumours.

scientific article published on January 1996

Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial

scientific article published on 30 November 2014

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prediction of relapse-free survival according to adjuvant chemotherapy and regulator of chromosome condensation 2 (RCC2) expression in colorectal cancer

scientific article published on 01 November 2020

Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP.

scientific article published on 11 May 2007

Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.

scientific article published on 02 July 2016

Prioritizing rare variants with conditional likelihood ratios

scientific article published on 03 February 2015

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

scientific article

Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery

scientific article published on 29 March 2010

Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging

scientific article published on 27 November 2013

Prognostic markers for colorectal cancer; estimating ploidy and stroma

scientific article published on 27 December 2017

Prognostic significance of POLE proofreading mutations in endometrial cancer.

scientific article

Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations

scientific article

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients

scientific article published on September 2003

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

Putative cis-regulatory drivers in colorectal cancer

scientific article published on 23 July 2014

Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice

scientific article

RAD51B in Familial Breast Cancer

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RE: HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer

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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. ⬇️

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Rare genetic variants and the risk of cancer

scientific article published on June 2010

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

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Reciprocity between membranous and nuclear expression of β-catenin in colorectal tumours ⬇️

scientific article published on 01 September 1997

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

scientific article

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

scientific article

Reduced expression of molecules of the cadherin/catenin complex in the transition from colorectal adenoma to carcinoma

scientific article published on May 1, 1997

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

scientific article published on 10 November 2011

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

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Refining Molecular Analysis in the Pathways of Colorectal Carcinogenesis

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Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.

scientific article

Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients

scientific article

Relationship of extreme chromosomal instability with long-term survival in a retrospective analysis of primary breast cancer

scientific article

Replication stress links structural and numerical cancer chromosomal instability

scientific article published on February 2013

Replication study of SNP associations for colorectal cancer in Hong Kong Chinese

scientific article

Replicative DNA polymerase mutations in cancer

scientific article

Reply to "The classification of intestinal polyposis" ⬇️

scientific article published on 01 January 2013

Reply to: "Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient"

scientific article published on 11 December 2019

Robust RNA-based in situ mutation detection delineates colorectal cancer subclonal evolution.

scientific article published on 8 December 2017

SDH mutations in cancer ⬇️

scientific article published on July 13, 2011

SERUM- AND GLUCOCORTICOID-INDUCED KINASE SGK1 DIRECTLY PROMOTES THE DIFFERENTIATION OF COLORECTAL CANCER CELLS AND RESTRAINS METASTASIS

scientific article published on 15 October 2018

SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway

scientific article

Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH Mutations in Glioblastoma ⬇️

scientific article published on May 23, 2011

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome

scientific article published on September 1999

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives

scientific article published on 25 September 2006

Selection, the mutation rate and cancer: Ensuring that the tail does not wag the dog

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

scientific article

Severe polyposis in Apc(1322T) mice is associated with submaximal Wnt signalling and increased expression of the stem cell marker Lgr5.

scientific article published on 6 October 2010

Shared Genetic Etiology of Obesity-Related Traits and Barrett's Esophagus/Adenocarcinoma: Insights from Genome-Wide Association Studies

scientific article published on 20 November 2019

Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome

scientific article published on 21 October 2008

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

scientific article published on 31 March 2018

Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study

scientific article published on 20 July 2016

Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas

scientific article

Survival in stage II/III colorectal cancer is independently predicted by chromosomal and microsatellite instability, but not by specific driver mutations

scientific article published on 17 September 2013

Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas

scientific article published on 07 October 2015

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

scientific article

TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres.

scientific article published on 27 June 2011

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

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Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway

scientific journal article

Targeted next generation sequencing reveals a common genetic pathway for colorectal cancers with chromosomal instability and those with microsatellite and chromosome stability

scientific article published on 20 May 2019

Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel

scientific article published on 13 February 2018

Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease

scientific article published on 01 September 1996

The 8q24 rs6983267G variant is associated with increased thyroid cancer risk

scientific article

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

scientific article published on September 1998

The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression

scientific article published on 25 February 2009

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The C-terminus of Apc does not influence intestinal adenoma development or progression

scientific article

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population

scientific article published on May 2005

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

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The Glasgow Microenvironment Score associates with prognosis and adjuvant chemotherapy response in colorectal cancer

scientific article published on 23 November 2020

The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.

scientific article published on 21 December 2015

The HLA system and the analysis of multifactorial genetic disease

scientific article published on December 1995

The Hunting of the Snark: Whither Genome-Wide Association Studies for Colorectal Cancer?

scientific article published on 28 April 2016

The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability

scientific article published on 08 July 2020

The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.

scientific article published on January 2003

The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer

scientific article published on 24 April 2009

The Utility of Mouse Models in Post-GWAS Research ⬇️

scientific article published on December 7, 2012

The Wnt pathway, epithelial-stromal interactions, and malignant progression in phyllodes tumours

scientific article published on 01 April 2002

The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease.

scientific article

The androgen receptor exon 1 trinucleotide repeat does not act as a modifier of the age of presentation in breast cancer

scientific article published on 01 March 2000

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

scientific article published on 28 June 2009

The continuum model of selection in human tumors: general paradigm or niche product?

scientific article published on 02 May 2012

The effects of mutational processes and selection on driver mutations across cancer types.

scientific article

The evolutionary landscape of colorectal tumorigenesis ⬇️

scientific article published on 31 August 2018

The frequency and mechanism of loss of heterozygosity on chromosome 11q in breast cancer

scientific article published on 01 September 1996

The genetics of FAP and FAP-like syndromes

scientific article published on January 2006

The importance of p53 pathway genetics in inherited and somatic cancer genomes.

scientific article published on March 2016

The in vivo rate of somatic adenomatous polyposis coli mutation

scientific article published on 5 March 2008

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

scientific article published on 14 March 2012

The mini-driver model of polygenic cancer evolution

scientific article published on 12 October 2015

The multiple colorectal adenoma phenotype and MYH, a base excision repair gene

scientific article published in August 2004

The mutation rate and cancer

scientific article

The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression

scientific article published on 17 September 2019

The role of E-cadherin in low-grade ductal breast tumourigenesis

scientific article published on May 2003

The role of cell proliferation and crypt fission in adenoma aggressiveness: a comparison of ileoanal pouch and rectal adenomas in familial adenomatous polyposis

scientific article published on April 2011

The role of inflammation in subventricular zone cancer

scientific article published on 11 April 2018

The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.

scientific article published on June 2002

The stem cell marker CD133 associates with enhanced colony formation and cell motility in colorectal cancer

scientific article

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

scientific article

Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24 ⬇️

scientific article (publication date: March 2012)

Tissue, cell and stage specificity of (epi)mutations in cancers

scientific article published on 01 August 2005

Translational study identifies XPF and MUS81 as predictive biomarkers for oxaliplatin-based peri-operative chemotherapy in patients with esophageal adenocarcinoma.

scientific article

Tumor burden and clonality in multiple intestinal neoplasia mouse/normal mouse aggregation chimeras

scientific journal article

Tumour recurrence is associated with Jass grouping but not with differences in E-cadherin expression in moderately differentiated Dukes' B colorectal cancers.

scientific article published on March 1997

Two hits revisited again

scientific article

Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients

scientific article published in March 2009

Unregulated smooth-muscle myosin in human intestinal neoplasia

scientific article

Urgent improvements needed to diagnose and manage Lynch syndrome

scientific article published on 20 March 2017

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

scientific article published on February 1997

Use of multivariate analysis to suggest a new molecular classification of colorectal cancer.

scientific article published on February 2013

Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review

scientific article

Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age.

scientific article

Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours

scientific article published on 01 September 1996

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

scientific article published on 22 March 2016

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

scientific article

What Can Be Learnt about Disease Progression in Breast Cancer Dormancy from Relapse Data? ⬇️

scientific article published on May 6, 2013

What can we learn from the population incidence of cancer? Armitage and Doll revisited

scientific article published on November 2007

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

scientific article

Whole-genome methylation analysis of benign and malignant colorectal tumours

scientific article (publication date: April 2013)

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

scientific article

Why is cancer not more common? A changing microenvironment may help to explain why, and suggests strategies for anti-cancer therapy

scientific article published on 15 April 2020

mRNA expression profiling of phyllodes tumours of the breast: identification of genes important in the development of borderline and malignant phyllodes tumours

scientific article published on December 2008

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

scientific article

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