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Mutational landscape of colorectal tumors from individuals with unexplained adenomatous or serrated colorectal polyposis

Gastroenterology

Sommer, K; Te Paske I.; Jansen E.; Gschwind A.; Demidov G.; Steinke-Lange V.; Spier I.; Steyaert W.; Yaldiz B.; Steehouwer M.; others

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Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care

European Journal of Human Genetics

Voer, M; Valle L.

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Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes

European Journal of Human Genetics

Munt{\'e} E.; Mui{\~n}os F.; Mar{\'\i}n R.; Feliubadal{\'o} L.; Brando F.; L{\'o}pez-Bigas N.; L{\'a}zaro C.; Gonz{\'a}lez-P{\'e}rez A.; Valle L.

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Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A

Helderman, C; Tops, M; Legebeke J.; Yang T.; Gay M.; Terlouw D.; Lashley L.; Aretz S.; Sommer, K; Terradas M.; others

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Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

JCO Precision Oncology

Martins N.; Terradas M.; Garcia-Pelaez J.; Sommer, K; Demidov G.; Matalonga L.; Ramos-Muntada M.; Te Paske I.; Spier I.; Mensenkamp A.; others

2025

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Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

Human Genetics and Genomics Advances

Helderman, C; Yang T.; Palles C.; Terlouw D.; Mei H.; Vorderman R.; Cats D.; D{\'\i}az-Gay M.; Jongmans M.; Ramdien A.; others

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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

Genome medicine

Rofes P.; Castillo-Manzano C.; Men{\'e}ndez M.; Teul{\'e} {.; Iglesias S.; Munt{\'e} E.; Ramos-Muntada M.; G{\'o}mez C.; Tornero E.; Darder E.; others

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Genetics, genomics and clinical features of adenomatous polyposis

Familial Cancer

Joo, E; Viana-Errasti J.; Buchanan, D; Valle L.

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Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome

International journal of cancer

Dom{\'\i}nguez-Rovira X.; Arnau-Collell C.; Gonfaus-Ortiz G.; Llargu{\'e}s-Sistac G.; Mu{\~n}oz J.; Llopis A.; Soares de Lima Y.; Herrera-Pariente C.; Moreira L.; Oca{\~n}a T.; others

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Comparative analysis of somatic and germline polymerase proofreading deficiencies in cancer: molecular and clinical implications

Modern Pathology

Viana-Errasti J.; Mar{\'\i}n R.; Garc{\'\i}a-Mulero S.; Pons T.; Terradas M.; Capell{\'a} G.; Moreno V.; Mur P.; Valle L.

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Constitutional epimutations in LTBP4, a component of the TGF-$\beta$ signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer

Clinical Epigenetics

Terradas M.; Mur P.; Mor{\'o}n-Duran, D; Mengod P.; L{\"o}ffler C.; Helderman, C; Terlouw D.; Sanju{\'a}n X.; Bousquets-Mu{\~n}oz P.; Viana-Errasti J.; others

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APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites

Journal of Medical Genetics

Allen S.; Rowlands, F; Latchford A.; Turnbull C.; Valle L.

2024

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Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome

Genes \& diseases

Gonzalez-Abuin N.; Pons T.; Fuster T.; Quintana I.; Terradas M.; Aiza G.; Brunet J.; Capell{\'a} G.; Hampel H.; Valle L.

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Exploring co-occurring POLE exonuclease and non-exonuclease domain mutations and their impact on tumor mutagenicity

Cancer research communications

Shah, M; Demidova, V; Ringenbach S.; Faezov B.; Andrake M.; Gandhi A.; Mur P.; Viana-Errasti J.; Xiu J.; Swensen J.; others

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Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management

The Lancet Gastroenterology \& Hepatology

Valle L.; Monahan, J

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Discovery of recessive effect of human polymerase $\delta$ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells

European Journal of Human Genetics

Andrianova, A; Seplyarskiy, B; Terradas M.; S{\'a}nchez-Heras A.; Mur P.; Soto J.; Aiza G.; Borr{\`a}s E.; Kondrashov, A; Kondrashov, S; others

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Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

British Journal of Surgery

Zaffaroni G.; Mannucci A.; Koskenvuo L.; De Lacy B.; Maffioli A.; Bisseling T.; Half E.; Cavestro G.; Valle L.; Ryan N.; others

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Germline NPAT inactivating variants as cause of hereditary colorectal cancer

European Journal of Human Genetics

Terradas M.; Schubert, A; Viana-Errasti J.; Ruano D.; Aiza G.; Nielsen M.; Marciel P.; Tops, M; Parra G.; Morreau H.; others

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An interconnected data infrastructure to support large-scale rare disease research

Gigascience

Johansson, F; Laurie S.; Spalding D.; Gibson S.; Ruvolo D.; Thomas C.; Piscia D.; De Andrade F.; Been G.; Bijlsma M.; others

2023

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Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Journal of Medical Genetics

Soares de Lima Y.; Arnau-Collell C.; Mu{\~n}oz J.; Herrera-Pariente C.; Moreira L.; Oca{\~n}a T.; D{\'\i}az-Gay M.; Franch-Exp{\'o}sito S.; Cuatrecasas M.; Carballal S.; others

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Wnt genes in colonic polyposis predisposition

Genes \& Diseases

Quintana I.; Terradas M.; Mur P.; Te Paske I.; Peters S.; Spier I.; Steinke-Lange V.; Maestro C.; Torrents D.; Puiggr{\`o}s M.; others

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TET1 and TDG suppress inflammatory response in intestinal tumorigenesis: implications for colorectal tumors with the CpG island methylator phenotype

Gastroenterology

Tricarico R.; Madzo J.; Scher G.; Cohen M.; Jelinek J.; Maegawa S.; Nagarathinam R.; Scher C.; Chang W.; Nicolas E.; others

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Characterization of POLE c. 1373A> T p.(Tyr458Phe), causing high cancer risk

Molecular Genetics and Genomics

Rocque, J; Leipart V.; Kumar Singh A.; Mur P.; Olsen, F; Engebretsen, F; Martin-Ramos E.; Aligu{\'e} R.; S{\ae}trom P.; Valle L.; others

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Human Genetics and Genomics Advances

Jackson A.; Lin S.; Jones, A; Chandler, E; Orr D.; Moss C.; Haider Z.; Ryan G.; Holden S.; Harrison M.; others

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Delphi initiative for early-onset colorectal cancer (DIRECt) international management guidelines

Clinical Gastroenterology and Hepatology

Cavestro G.; Mannucci A.; Balaguer F.; Hampel H.; Kupfer, S; Repici A.; Sartore-Bianchi A.; Sepp{\"a}l{\"a}, T; Valentini V.; Boland C.; others

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Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

Journal of Medical Genetics

Valle L.; Katz, H; Latchford A.; Mur P.; Moreno V.; Frayling, M; Heald B.; Capell{\'a} G.

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Lynch syndrome: a single hereditary cancer syndrome or multiple syndromes defined by different mismatch repair genes?

Gastroenterology

Valle L.

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Genetics in Medicine

Denomm{\'e}-Pichon A.; Matalonga L.; De Boer E.; Jackson A.; Benetti E.; Banka S.; Bruel A.; Ciolfi A.; Clayton-Smith J.; Dallapiccola B.; others

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MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes

European Journal of Human Genetics

Terradas M.; Gonzalez-Abuin N.; Garc{\'\i}a-Mulero S.; Viana-Errasti J.; Aiza G.; Piulats, M; Brunet J.; Capell{\'a} G.; Valle L.

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Identification of antisense and sense RNAs of intracrine fibroblast growth factor components as novel biomarkers in colorectal cancer and in silico studies for drug and nanodrug repurposing

Environmental Research

Rejali L.; Nazemalhosseini-Mojarad E.; Valle L.; Maghsoudloo M.; Aghdaei H.; Mohammadpoor H.; Zali M.; Khanabadi B.; Entezari M.; Hushmandi K.; others

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Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Genome medicine

Mur P.; Viana-Errasti J.; Garc{\'\i}a-Mulero S.; Magraner-Pardo L.; Mu{\~n}oz, G; Pons T.; Capell{\'a} G.; Pineda M.; Feliubadal{\'o} L.; Valle L.

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MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome

Scientific Reports

Wiik M.; Negline M.; Beisv{\aa}g V.; Clapham M.; Holliday E.; Due{\~n}as N.; Brunet J.; Pineda M.; Bonifaci N.; Aretz S.; others

2022

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Solving the enigma of POLD1 p. V295M as a potential cause of increased cancer risk

European Journal of Human Genetics

Mur P.; Magraner-Pardo L.; Garcia-Mulero S.; Diez-Villanueva A.; Del Valle J.; Ezquerro E.; Lazaro C.; Capella G.; Moreno V.; Sanz-Pamplona R.; others

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Potential involvement of nsd1, krt24 and acaca in the genetic predisposition to colorectal cancer

Cancers

Quintana I.; Mur P.; Terradas M.; Garc{\'\i}a-Mulero S.; Aiza G.; Navarro M.; Pi{\~n}ol V.; Brunet J.; Moreno V.; Sanz-Pamplona R.; others

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Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes--a collaborative multicentre endeavour within the project Solve-RD

European journal of medical genetics

Sommer, K; Te Paske I.; Garcia-Pelaez J.; Laner A.; Holinski-Feder E.; Steinke-Lange V.; Peters S.; Valle L.; Spier I.; Huntsman D.; others

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Extended family with germline pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading inactivation

bioRxiv

Andrianova, A; Seplyarskiy, B; Terradas M.; S{\'a}nchez-Heras A.; Mur P.; Luis Soto J.; Aiza G.; Kondrashov, A; Kondrashov, S; Bazykin, A; others

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Co-occurring mutations in the POLE exonuclease and non-exonuclease domains define a unique subset of highly mutagenic tumors

bioRxiv

Shah, M; Demidova, V; Ringenbach S.; Faezov B.; Andrake M.; Mur P.; Viana-Errasti J.; Xiu J.; Swensen J.; Valle L.; others

2021

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

Gut

Terradas M.; Mur P.; Belhadj S.; Woodward, R; Burghel, J; Munoz-Torres, M; Quintana I.; Navarro M.; Brunet J.; Lazaro C.; others

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The inherited and familial component of early-onset colorectal cancer

Cells

Daca Alvarez M.; Quintana I.; Terradas M.; Mur P.; Balaguer F.; Valle L.

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

Scientific reports

Fern{\'a}ndez-Rozadilla C.; {\'A}lvarez-Barona M.; Quintana I.; L{\'o}pez-Novo A.; Amigo J.; Cameselle-Teijeiro J.; Roman E.; Gonz{\'a}lez D.; Llor X.; Bujanda L.; others

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A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants

Scientific Reports

Wiik M.; Evans T.; Belhadj S.; Bolton, A; Dymerska D.; Jagmohan-Changur S.; Capell{\'a} G.; Kurzawski G.; Wijnen, T; Valle L.; others

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Non-lynch familial and early-onset colorectal cancer explained by accumulation of low-risk genetic variants

Cancers

Mur P.; Bonifaci N.; Diez-Villanueva A.; Munt{\'e} E.; Alonso M.; Obon-Santacana M.; Aiza G.; Navarro M.; Pinol V.; Brunet J.; others

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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

European Journal of Human Genetics

Sch{\"u}le R.; Timmann D.; Erasmus, E; Reichbauer J.; Wayand M.; Warrenburg B.; Sch{\"o}ls L.; Wilke C.; Bevot A.; others

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A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

European Journal of Human Genetics

Te Paske I.; Garcia-Pelaez J.; Sommer, K; Matalonga L.; Starzynska T.; Jakubowska A.; Post, S; Lubinski J.; Oliveira C.; others

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

European Journal of Human Genetics

Matalonga L.; Hern{\'a}ndez-Ferrer C.; Piscia D.; Sch{\"u}le R.; Synofzik M.; T{\"o}pf A.; Vissers L.; Voer R.; others

2020

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

Journal of Human Genetics

Mur P.; Palles C.; Tomlinson I.; Valle L.

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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

Journal of medical genetics

Arnau-Collell C.; Soares de Lima Y.; D{\'\i}az-Gay M.; Mu{\~n}oz J.; Carballal S.; Bonjoch L.; Moreira L.; Lozano J.; Oca{\~n}a T.; Cuatrecasas M.; others

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Germline mutations in FAF1 are associated with hereditary colorectal cancer

Gastroenterology

Bonjoch L.; Franch-Exp{\'o}sito S.; Garre P.; Belhadj S.; Mu{\~n}oz J.; Arnau-Collell C.; D{\'\i}az-Gay M.; Gratac{\'o}s-Mulleras A.; Raimondi G.; Esteban-Jurado C.; others

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Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes

Journal of Clinical Medicine

Terradas M.; Capell{\'a} G.; Valle L.

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Comprehensive constitutional genetic and epigenetic characterization of Lynch-like individuals

Cancers

D{\'a}maso E.; Gonz{\'a}lez-Acosta M.; Vargas-Parra G.; Navarro M.; Balma{\~n}a J.; Ramon y Cajal T.; Tuset N.; Thompson, A; Mar{\'\i}n F.; Fern{\'a}ndez A.; others

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Role of POLE and POLD1 in familial cancer

Genetics in Medicine

Mur P.; Garc{\'\i}a-Mulero S.; Del Valle J.; Magraner-Pardo L.; Vidal A.; Pineda M.; Cinnirella G.; Mart{\'\i}n-Ramos E.; Pons T.; L{\'o}pez-Doriga A.; others

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Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1

American Journal of Medical Genetics Part A

Valenzuela I.; Codina M.; Fern{\'a}ndez-{\'A}lvarez P.; Mur P.; Valle L.; Tizzano, F; Cusc{\'o} I.

2019

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

The Journal of pathology

Valle L.; Vilar E.; Tavtigian, V; Stoffel, M

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

Cancer Letters

Belhadj S.; Moutinho C.; Mur P.; Setien F.; Llin{\`a}s-Arias P.; P{\'e}rez-Salvia M.; Pons T.; Pineda M.; Brunet J.; Navarro M.; others

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Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype

Cancer cell

Grolleman, E; De Voer, M; Elsayed, A; Nielsen M.; Weren R.; Palles C.; Ligtenberg M.; Vos, R; Ten Broeke, W; De Miranda N.; others

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Update on genetic predisposition to colorectal cancer and polyposis

Molecular aspects of medicine

Valle L.; Voer, M; Goldberg Y.; Sjursen W.; F{\"o}rsti A.; Ruiz-Ponte C.; Cald{\'e}s T.; Garr{\'e} P.; Olsen, F; Nordling M.; others

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

Scientific Reports

Belhadj S.; Quintana I.; Mur P.; Munoz-Torres, M; Alonso, M; Navarro M.; Terradas M.; Pinol V.; Brunet J.; Moreno V.; others

2018

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Adenomatous polyposis syndromes: Polymerase proofreading-associated polyposis

Palles C.; Latchford A.; Valle L.

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Hereditary colorectal cancer

Valle L.; Gruber, B; Capell{\'a} G.

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Mismatch Repair-Proficient Hereditary Nonpolyposis Colorectal Cancer

Valle L.

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

Gut

Quintana I.; Mej{\'\i}as-Luque R.; Terradas M.; Navarro M.; Pi{\~n}ol V.; Mur P.; Belhadj S.; Grau E.; Darder E.; Solanes A.; others

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

Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease

Lopez-Doriga A.; Valle L.; Alonso, M; Ausso S.; Closa A.; Sanjuan X.; Barquero D.; Rodriguez-Moranta F.; Sanz-Pamplona R.; Moreno V.

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Association between germline mutations in BRF1, a subunit of the RNA polymerase III transcription complex, and hereditary colorectal cancer

Gastroenterology

Bellido F.; Sowada N.; Mur P.; L{\'a}zaro C.; Pons T.; Vald{\'e}s-Mas R.; Pineda M.; Aiza G.; Iglesias S.; Soto J.; others

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

Molecular cancer

Mur P.; De Voer, M; Olivera-Salguero R.; Rodr{\'\i}guez-Perales S.; Pons T.; Seti{\'e}n F.; Aiza G.; Vald{\'e}s-Mas R.; Bertini A.; Pineda M.; others

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Colon-specific eQTL analysis to inform on functional SNPs

British Journal of Cancer

Moreno V.; Alonso, M; Closa A.; Vall{\'e}s X.; Diez-Villanueva A.; Valle L.; Castellv{\'\i}-Bel S.; Sanz-Pamplona R.; Lopez-Doriga A.; Cordero D.; others

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Mutations in interferon gamma and antigen presentation pathways are frequent in hiper/ultra-mutated (HiMut) tumors and could be result of immune-editing processes in HiMut tumors

Piulats Rodriguez J.; Garcia-Mulero, S; Valle, L; Moreno, V; Matias-Guiu, X; Sanz-Pamplona, R

2017

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Delineating the phenotypic spectrum of the NTHL1-associated polyposis

Clinical Gastroenterology and Hepatology

Belhadj S.; Mur P.; Navarro M.; Gonz{\'a}lez S.; Moreno V.; Capell{\'a} G.; Valle L.

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

Familial cancer

Wimmer K.; Beilken A.; Nustede R.; Ripperger T.; Lamottke B.; Ure B.; Steinmann D.; Reineke-Plaass T.; Lehmann U.; Zschocke J.; others

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Recent discoveries in the genetics of familial colorectal cancer and polyposis

Clinical Gastroenterology and Hepatology

Valle L.

2016

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

Scientific Reports

Mur P.; S{\'a}nchez-Cuartielles E.; Auss{\'o} S.; Aiza G.; Vald{\'e}s-Mas R.; Pineda M.; Navarro M.; Brunet J.; Urioste M.; L{\'a}zaro C.; others

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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

Genetics in Medicine

Bellido F.; Pineda M.; Aiza G.; Vald{\'e}s-Mas R.; Navarro M.; Puente, A; Pons T.; Gonz{\'a}lez S.; Iglesias S.; Darder E.; others

2015

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AMER1 is a frequently mutated gene in colorectal cancer

Clinical Cancer Research

Mur P.; Aiza G.; Sanz-Pamplona R.; Gonz{\'a}lez S.; Navarro M.; Moreno V.; Capell{\'a} G.; Valle L.

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Exome sequencing reveals AMER1 as a frequently mutated gene in colorectal cancer

Clinical cancer research

Sanz-Pamplona R.; Lopez-Doriga A.; Par{\'e}-Brunet L.; L{\'a}zaro K.; Bellido F.; Alonso, M; Auss{\'o} S.; Guin{\'o} E.; Beltr{\'a}n S.; Castro-Giner F.; others

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

Gut

Segu{\'\i} N.; Navarro M.; Pineda M.; K{\"o}ger N.; Bellido F.; Gonz{\'a}lez S.; Campos O.; Iglesias S.; Vald{\'e}s-Mas R.; L{\'o}pez-Doriga A.; others

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Germline mutations in FAN1 cause hereditary colorectal cancer by impairing DNA repair

Gastroenterology

Segu{\'\i} N.; Mina, B; L{\'a}zaro C.; Sanz-Pamplona R.; Pons T.; Navarro M.; Bellido F.; L{\'o}pez-Doriga A.; Vald{\'e}s-Mas R.; Pineda M.; others

2014

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GALNT 12 is Not a Major Contributor of Familial Colorectal Cancer Type X

Human mutation

Segu{\'\i} N.; Pineda M.; Navarro M.; L{\'a}zaro C.; Brunet J.; Infante M.; Dur{\'a}n M.; Soto J.; Blanco I.; Capell{\'a} G.; others

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

PLoS One

Segu{\'\i} N.; Guino E.; Pineda M.; Navarro M.; Bellido F.; Lazaro C.; Blanco I.; Moreno V.; Capella G.; Valle L.

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

Human molecular genetics

Valle L.; Hern{\'a}ndez-Ill{\'a}n E.; Bellido F.; Aiza G.; Castillejo A.; Castillejo M.; Navarro M.; Segu{\'\i} N.; Vargas G.; Guarinos C.; others

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

European Journal of Cancer

Bellido F.; Pineda M.; Sanz-Pamplona R.; Navarro M.; Nadal M.; L{\'a}zaro C.; Blanco I.; Moreno V.; Capell{\'a} G.; Valle L.

2013

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

European Journal of Human Genetics

Bellido F.; Guin{\'o} E.; Jagmohan-Changur S.; Segui N.; Pineda M.; Navarro M.; L{\'a}zaro C.; Blanco I.; Vasen H.; Moreno V.; others

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Telomere length and genetic anticipation in Lynch syndrome

PloS one

Segu{\'\i} N.; Pineda M.; Guin{\'o} E.; Borr{\`a}s E.; Navarro M.; Bellido F.; Moreno V.; L{\'a}zaro C.; Blanco I.; Capell{\'a} G.; others

2011

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

British Journal of Cancer

Valle, L; Capell{\'a}, G; Moreno V.; Rennert, G; Gruber S.

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

British journal of cancer

Segu{\'\i}, N; Stevens K.; Guin{\'o}, E; Rozek L.; Moreno V.; Capell{\'a}, G; Gruber S.; Valle, L

2009

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Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients

Cancer research

Guda K.; Natale L.; Lutterbaugh J.; Wiesner, L; Lewis S.; Tanner, M; Tomsic J.; Valle L.; De La Chapelle A.; Elston, C; others

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Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development

Cancer research

Zeng Q.; Phukan S.; Xu Y.; Sadim M.; Rosman, S; Pennison M.; Liao J.; Yang G.; Huang C.; Valle L.; others

2008

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Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer

Science

Valle L.; Serena-Acedo T.; Liyanarachchi S.; Hampel H.; Comeras I.; Li Z.; Zeng Q.; Zhang H.; Pennison, J; Sadim M.; others

2007

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

Journal of clinical oncology

Valle L.; Perea J.; Carbonell P.; Fernandez V.; Dotor, M; Benitez J.; Urioste M.

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

Clinical genetics

Valle, L; Carbonell, P; Fernandez, V; Dotor A.; Sanz, M; Benitez, J; Urioste, M

2006

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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

Hematological Oncology

Valle L.; Fern{\'a}ndez V.; P{\'e}rez-Pons C.; S{\'a}nchez F.; Ben{\'\i}tez J.; Urioste M.

2005

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

Genes, Chromosomes and Cancer

Mart{\'\i}nez-Ram{\'\i}rez A.; Urioste M.; Melchor L.; Blesa D.; Valle L.; Andr{\'e}s S.; Kok K.; Calasanz M.; Cigudosa J.; Ben{\'\i}tez J.

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

European journal of human genetics

Valle L.; Cascon A.; Melchor L.; Otero I.; Rodr{\'\i}guez-Perales S.; S{\'a}nchez L.; Cruz Cigudosa J.; Robledo M.; Weber B.; Urioste M.; others

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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

Clinical Cancer Research

Alvarez S.; Diaz-Uriarte R.; Osorio A.; Barroso A.; Melchor L.; Paz M.; Honrado E.; Rodríguez R.; Urioste M.; Valle L.; others

2004

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Molecular cytogenetic characterization of rhabdomyosarcoma cell lines

Cancer genetics and cytogenetics

Rodriguez-Perales S.; Mart{\i}́nez-Ram{\i}́rez A.; Andr{\'e}s S.; Valle L.; Urioste M.; Ben{\i}́tez J.; Cigudosa, C

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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

Human molecular genetics

Rodr{\'\i}guez-Perales S.; Mel{\'e}ndez B.; Gribble, M; Valle L.; Carter, P; Santamar{\'\i}a I.; Conde L.; Urioste M.; Ben{\'\i}tez J.; Cigudosa, C

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Malignant degeneration of presacral teratoma in the Currarino anomaly

American Journal of Medical Genetics Part A

Urioste M.; Carmen Garcia-Andrade, M; Valle L.; Robledo M.; Gonz{\'a}lez-Palacios F.; M{\'e}ndez R.; Ferreir{\'o}s J.; Nu{\~n}o J.; Ben{\'\i}tez J.

2003

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

The EMBO journal

Ballestar E.; Paz, F; Valle L.; Wei S.; Fraga, F; Espada J.; Cigudosa J.; Huang T.; Esteller M.

{2012

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Debate about TGFBR1 and the susceptibility to colorectal cancer

World Journal of Gastrointestinal Oncology

Valle L.

{2018

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

Human mutation

Mur P.; Jemth A.; Bevc L.; Amaral N.; Navarro M.; Vald{\'e}s-Mas R.; Pons T.; Aiza G.; Urioste M.; Valencia A.; others

{2014

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

World journal of gastroenterology: WJG

Valle L.

{2004

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

Journal of clinical oncology

Urioste, M

{2018

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

Oncotarget

Thutkawkorapin J.; Mahdessian H.; Barber T.; Picelli S.; Holst S.; Lundin J.; Valle L.; Kontham V.; Liu T.; Nilsson D.; others

{2019

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

Human Mutation

Terradas M.; Munoz-Torres, M; Belhadj S.; Aiza G.; Navarro M.; Brunet J.; Capell{\'a} G.; Valle L.

{2020

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

Human Mutation

Belhadj S.; Terradas M.; Munoz-Torres, M; Aiza G.; Navarro M.; Capella G.; Valle L.

{2021

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Lynch syndrome

Idos G.; Valle L.

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18-695. R2 Poulsom Edited USA English INVITED REVIEW

{Valle L.; Vilar E.; Tavtigian, V; Stoffel, M

Publications Colorectal Cancer Predisposition Lab

2026

Mutational landscape of colorectal tumors from individuals with unexplained adenomatous or serrated colorectal polyposis

Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care

Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

2025

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

Genetics, genomics and clinical features of adenomatous polyposis

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome

Comparative analysis of somatic and germline polymerase proofreading deficiencies in cancer: molecular and clinical implications

Constitutional epimutations in LTBP4, a component of the TGF-$\beta$ signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer

APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites

2024

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome

Exploring co-occurring POLE exonuclease and non-exonuclease domain mutations and their impact on tumor mutagenicity

Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management

Discovery of recessive effect of human polymerase $\delta$ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Germline NPAT inactivating variants as cause of hereditary colorectal cancer

An interconnected data infrastructure to support large-scale rare disease research

2023

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Wnt genes in colonic polyposis predisposition

TET1 and TDG suppress inflammatory response in intestinal tumorigenesis: implications for colorectal tumors with the CpG island methylator phenotype

Characterization of POLE c. 1373A> T p.(Tyr458Phe), causing high cancer risk

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Delphi initiative for early-onset colorectal cancer (DIRECt) international management guidelines

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

Lynch syndrome: a single hereditary cancer syndrome or multiple syndromes defined by different mismatch repair genes?

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes

Identification of antisense and sense RNAs of intracrine fibroblast growth factor components as novel biomarkers in colorectal cancer and in silico studies for drug and nanodrug repurposing

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome

2022

Solving the enigma of POLD1 p. V295M as a potential cause of increased cancer risk

Potential involvement of nsd1, krt24 and acaca in the genetic predisposition to colorectal cancer

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes--a collaborative multicentre endeavour within the project Solve-RD

Extended family with germline pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading inactivation

Co-occurring mutations in the POLE exonuclease and non-exonuclease domains define a unique subset of highly mutagenic tumors

2021

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

The inherited and familial component of early-onset colorectal cancer

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

A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants

Non-lynch familial and early-onset colorectal cancer explained by accumulation of low-risk genetic variants

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

2020

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

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

Germline mutations in FAF1 are associated with hereditary colorectal cancer

Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes

Comprehensive constitutional genetic and epigenetic characterization of Lynch-like individuals

Role of POLE and POLD1 in familial cancer

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1

2019

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

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

Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype

Update on genetic predisposition to colorectal cancer and polyposis

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

2018

Adenomatous polyposis syndromes: Polymerase proofreading-associated polyposis

Hereditary colorectal cancer

Mismatch Repair-Proficient Hereditary Nonpolyposis Colorectal Cancer

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

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

Association between germline mutations in BRF1, a subunit of the RNA polymerase III transcription complex, and hereditary colorectal cancer

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

Colon-specific eQTL analysis to inform on functional SNPs

Mutations in interferon gamma and antigen presentation pathways are frequent in hiper/ultra-mutated (HiMut) tumors and could be result of immune-editing processes in HiMut tumors

2017

Delineating the phenotypic spectrum of the NTHL1-associated polyposis

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

Recent discoveries in the genetics of familial colorectal cancer and polyposis