List of works - Laura Valle

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

scientific article published on 29 August 2016

A predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylation

article

AMER1 Is a Frequently Mutated Gene in Colorectal Cancer--Letter

article

About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family

scientific article

Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH array

scientific article published on 01 March 2005

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

scientific article

Candidate genes for hereditary colorectal cancer: mutational screening and systematic review

scientific article published on 25 May 2020

Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status

scientific article published on 16 January 2007

Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.

scientific article published on 11 March 2004

Colon-specific eQTL analysis to inform on functional SNPs

scientific article published on 04 October 2018

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

scientific article published on 05 July 2020

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency

scientific article published on 16 May 2014

Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member.

scientific article published in June 2004

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes

scientific article published on 29 July 2019

Debate about TGFBR1 and the susceptibility to colorectal cancer

scientific article published on January 2012

Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.

scientific article

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes

scientific article published on 23 June 2020

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

scientific article published on 12 January 2018

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer

scientific article

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype

scientific article published in April 2014

Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

scientific article published on 27 May 2021

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity

scientific article published in 2024

GALNT12 is not a major contributor of familial colorectal cancer type X.

scientific article

Generation of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6 Mb of 9q34 into the BCR region of chromosome 22

scientific article published on 01 June 2006

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine

scientific article published on 20 February 2019

Genetic predisposition to colorectal cancer: where we stand and future perspectives

scientific article

Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

scientific article published on 5 September 2012

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

scientific article

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

scientific article published on 15 February 2018

Germline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer

scientific article published on 21 January 2019

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis

article

Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer.

scientific article published on 03 February 2014

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer

scientific article published on 01 March 2007

Malignant degeneration of presacral teratoma in the Currarino anomaly

scientific article published on 01 July 2004

Methyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer.

scientific article

Molecular cytogenetic characterization of rhabdomyosarcoma cell lines

scientific article published on January 2004

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

scientific article published on 01 February 2019

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

scientific article published on 21 June 2019

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

scientific article

No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations

scientific article

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

scientific article

Recent discoveries in the genetics of familial colorectal cancer and polyposis

scientific article

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

scientific article published on 11 December 2019

Reply: Allelic imbalance of TGFBR1 is not a major contributor to the genetic predisposition to colorectal cancer.

scientific article published on 26 April 2011

Role of POLE and POLD1 in familial cancer

scientific article published on 14 August 2020

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

scientific article published on 8 February 2016

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

scientific article published on 30 September 2020

Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response

scientific article published on 14 June 2018

Telomere length and genetic anticipation in Lynch syndrome

scientific article

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

scientific article published on 29 January 2018

Update on genetic predisposition to colorectal cancer and polyposis

scientific article published on 18 March 2019

List of works by Laura Valle

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

A predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylation

AMER1 Is a Frequently Mutated Gene in Colorectal Cancer--Letter

About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family

Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH array

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

Candidate genes for hereditary colorectal cancer: mutational screening and systematic review

Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status

Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.

Colon-specific eQTL analysis to inform on functional SNPs

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency

Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member.

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes

Debate about TGFBR1 and the susceptibility to colorectal cancer

Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.

Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer

Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype

Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity

GALNT12 is not a major contributor of familial colorectal cancer type X.

Generation of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6 Mb of 9q34 into the BCR region of chromosome 22

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine

Genetic predisposition to colorectal cancer: where we stand and future perspectives

Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

Germline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis

Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer.

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer

Malignant degeneration of presacral teratoma in the Currarino anomaly

Methyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer.

Molecular cytogenetic characterization of rhabdomyosarcoma cell lines

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

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

Recent discoveries in the genetics of familial colorectal cancer and polyposis

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

Reply: Allelic imbalance of TGFBR1 is not a major contributor to the genetic predisposition to colorectal cancer.

Role of POLE and POLD1 in familial cancer

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response

Telomere length and genetic anticipation in Lynch syndrome

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

Update on genetic predisposition to colorectal cancer and polyposis