Lista de obras - Claire Palles - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

A panoply of errors: polymerase proofreading domain mutations in cancer

artículo científico publicado en 2016

Author Correction: Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases

scientific article published on 04 December 2019

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

artículo científico publicado en 2012

CYP3A variation, premenopausal estrone levels, and breast cancer risk

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Correspondence: SEMA4A variation and risk of colorectal cancer

artículo científico publicado en 2016

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2021

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

artículo científico publicado en 2016

Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases

scientific article published on 16 September 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy

Identification of nine new susceptibility loci for endometrial cancer

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

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

artículo científico publicado en 2011

POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

artículo científico publicado en 2022

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

The evolutionary landscape of colorectal tumorigenesis ⬇️

scientific article published on 31 August 2018

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

artículo científico publicado en 2016

Lista de obras de Claire Palles

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

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

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

A panoply of errors: polymerase proofreading domain mutations in cancer

Author Correction: Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases

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

CYP3A variation, premenopausal estrone levels, and breast cancer risk

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

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

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

Correspondence: SEMA4A variation and risk of colorectal cancer

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

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

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

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

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

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

Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases

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

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

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

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

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

Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy

Identification of nine new susceptibility loci for endometrial cancer

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

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

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

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

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

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

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

POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer

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

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

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

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

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

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

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

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

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

The evolutionary landscape of colorectal tumorigenesis ⬇️

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