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PUBLICATIONS

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GeneReviews: Lynch syndrome

https://www.ncbi.nlm.nih.gov/books/NBK1211/

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Scientific articles​

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  • Terradas M, Mur P, Belhadj S, Woodward ER, Burghel GJ, Munoz-Torres PM, Quintana I, Navarro M, Brunet J, Lazaro C, Pineda M, Moreno V, Capella G, Evans DGR, Valle L. TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes. Gut. 2021

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  • Wiik MU, Evans TJ, Belhadj S, Bolton KA, Dymerska D, Jagmohan-Changur S, Capellá G, Kurzawski G, Wijnen JT, Valle L, Vasen HFA, Lubinski J, Scott RJ, Talseth-Palmer BA. A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants. Sci Rep. 2021

 

  • Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro JM, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer. Sci Rep. 2021

 

  • Daca Alvarez M, Quintana I, Terradas M, Mur P, Balaguer F, Valle L. The Inherited and Familial Component of Early-Onset Colorectal Cancer. Cells. 2021 

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  • Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L. Role of POLE and POLD1 in familial cancer. Genet Med. 2020 

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  • Arnau-Collell C, Soares de Lima Y, Díaz-Gay M, Muñoz J, Carballal S, Bonjoch L, Moreira L, Lozano JJ, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Capellà G, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Ruiz-Ponte C, Valle L, Moreno V, Castellvi-Bel S. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility. J Med Genet. 2020

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  • Belhadj S, Terradas M, Munoz-Torres PM, Aiza G, Navarro M, Capellá G, Valle L. Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review. Hum Mutat. 2020

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  • Dámaso E, González-Acosta M, Vargas-Parra G, Navarro M, Balmaña J, Ramon Y Cajal T, Tuset N, Thompson BA, Marín F, Fernández A, Gómez C, Velasco À, Solanes A, Iglesias S, Urgel G, López C, Del Valle J, Campos O, Santacana M, Matias-Guiu X, Lázaro C, Valle L, Brunet J, Pineda M, Capellá G. Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals. Cancers (Basel). 2020

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  • Bonjoch L, Franch-Expósito S, Garre P, Belhadj S, Muñoz J, Arnau-Collell C, Díaz-Gay M, Gratacós-Mulleras A, Raimondi G, Esteban-Jurado C, Soares de Lima Y, Herrera-Pariente C, Cuatrecasas M, Ocaña T, Castells A, Fillat C, Capellá G, Balaguer F, Caldés T, Valle L, Castellví-Bel S. Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer. Gastroenterology. 2020

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  • Terradas M, Capellá G, Valle L. Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes. J Clin Med. 2020

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  • Mur P, Palles C, Tomlinson I, Valle L. Reply to: "Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient". J Hum Genet. 2020

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  • Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, Capellá G, Valle L. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes. Human Mutation 2019

 

  •  *Belhadj S, *Quintana I, Mur P, Munoz-Torres PM, Alonso MH, Navarro M, Terradas M, Piñol V, Brunet J, Moreno V, Lázaro C, Capellá G, Valle L . NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. Scientific Reports 2019 Jun 21;9(1):9020.

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  • Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, *Castellvi-Bel S, *Hemminki. Update on genetic predisposition to colorectal cancer and polyposis. Molecular Aspects of Medicine 2019; 69:10-26

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  • Belhadj S, *Moutinho C, Mur P, Setien F, Llinàs-Arias P, Pérez-Salvia M, Pons T, Pineda M, Brunet J, Navarro M, Capellá G, Esteller M, Valle L. Germline variation in O6-Methylguanine-DNA Methyltransferase (MGMT) as cause of hereditary colorectal cancer. Cancer Letters 2019; 447:86-92

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  • Valle L, Vilar E, Sean V. Tavtigian, E.M. Stoffel. Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine. Journal of Pathology 2019; 247(5): 574-588

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  • Grolleman JE,*, de Voer RM,*, Elsayed FA,*, Nielsen M,*, Weren RDA,*, Palles C, Ligtenberg MJL, Vos JR, ten Broeke SW,  de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li Na, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype including a predisposition to colon and breast cancer. Cancer Cell 2019; 35(2):256-266

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  • Lopez-Doriga A, Valle L, Alonso MH, Aussó S, Closa A, Sanjuan X, Barquero D, Rodríguez-Moranta F, Sanz-Pamplona R, Moreno V. Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2018

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  • *Mur P, *Jemth A-S, Bevc L, Amaral N, Navarro M, Valdés-Mas R, Pons T, Aiza G, Urioste M, Valencia A, Lázaro C, Moreno V, Puente XS, Stenmark P, Warpman-Berglund U, Capellá G, Helleday T, Valle L. Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis. Human Mutation 2018

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  • Moreno V, Alonso MH, Closa A, Vallés X,  Diez-Villanueva A, Valle L, Castellví-Bel S, Sanz-Pamplona R, Lopez-Doriga A, Cordero D, Solé X. Colon-specific eQTL analysis to inform  on functional SNPs. British Journal of Cancer 2018

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  • *Quintana I, *Mejías-Luque R, *Terradas M, Navarro M, Piñol V, Mur P, Belhadj S, Grau E, Darder E, Solanes A, Brunet J, Capellá G, Gerhard M, Valle L. Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis. Gut 2018

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  • *Bellido F, *Sowada N, *Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. Association Between Germline Mutations in BRF1, a subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology 2018

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  • *Mur P, *de Voer RM, Olivera-Salguero R, Rodríguez-Perales S, Pons T, Setién F, Aiza G, Valdés-Mas R, Bertini A, Pineda M, Vreede L, Navarro M, Iglesias S, González S, Brunet J, Valencia A, Esteller M, Lázaro C, Kops GJPL, Urioste M, Puente XS, Capellá G, Valle L. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. Molecular Cancer 2018

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  • Thutkawkorapin J, Mahdessian H, Barber T, Picelli S, von Holst S, Lundin J, Valle L, Kontham V,  Liu T, Nilsson D, Jiao X, Lindblom A. Two novel colorectal cancer risk loci in the region on chromosome 9q22.32. Oncotarget 2018

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  • Valle L. Recent discoveries in the genetics of familial colorectal cancer and polyposis. Clinical Gastroenterology and Hepatology 2017

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  • Belhadj S, Mur P, Navarro M, González S, Moreno V, Capellá G, Valle L. Delineating the phenotypic spectrum of the NTHL1-associated polyposis. Clinical Gastroenterology and Hepatology 2017

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  • Wimmer K, Beilken A, Nustede R, Ripperger T, Lamottke B, Ure B, Steinmann D, Reineke-Plaass T, Lehmann U, Zschocke J, Valle L, Fauth C, Kratz CP. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Familial Cancer 2017

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  • *Bellido, *Pineda, Aiza, Valdés-Mas, Navarro, Puente, Pons, González, Iglesias, Darder, Piñol, Soto, Valencia, Blanco, Urioste, Brunet, Lázaro, Capellá, Puente, Valle L. POLE and POLD1 mutations in 529 kindreds with familial colorectal cancer and/or polyposis, review of reported cases and recommendations for genetic testing and surveillance. Genetics in Medicine 2016; 18(4):325-32. 

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  • Mur P, Sánchez-Cuartielles E, Aussó S, Aiza G, Valdés-Mas R, Pineda M, Navarro M, Brunet J, Urioste M, Lázaro C, Moreno V, Capellá G, Puente XS, Valle L.  Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis. Scientific Reports 2016; 6:20697.

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  • Mur P, Aiza G, Sanz-Pamplona R, González S, Navarro M, Moreno V, Capellá G, Valle L. AMER1 is a frequently mutated gene in colorectal cancer - Letter. Clinical Cancer Research 2015; 21(21):4985.

 

  • *Seguí N, *Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MA, Villanueva A , Blanco I, Capellá G, Surrallés J, Puente XS, Valle L. Germline mutations in FAN1 cause hereditary colorectal cancer by impairing DNA repair. Gastroenterology 2015; 149(3):563-6.

 

  • Sanz-Pamplona R, Lopez-Doriga A, Pare-Brunet L, Lazaro K, Bellido F, Alonso MH, Aussó S, Guino E, Beltran S, Castro-Giner F, Gut M, Sanjuan X, Closa A, Cordero D, Moron-Duran FD, Soriano A, Salazar R, Valle L, Moreno V. Exome sequencing reveals AMER1 as a frequently mutated gene in colorectal cancer. Clinical Cancer Research 2015

 

  • Valle L. Genetic predisposition to colorectal cancer: Where we stand and future perspectives. World Journal of Gastroenterology 2014; 20(29):9828-49

 

  • Segui N, Navarro M, Pineda M, Köger N, Bellido F, González S, Campos S, Iglesias S, Valdés-Mas R, López-Doriga A, Gut M, Blanco I, Lázaro C, Capellá G, Puente XS, Plotz G*, Valle L*. Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype. Gut 2014; 64 (2):355-6

 

  • Bellido F, Pineda M, Sanz-Pamplona R, Navarro M, Nadal M, Lázaro C, Blanco I, Moreno V, Capellá G, Valle L. Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency. European Journal of Cancer 2014; 50(11):1964-72

 

  • Valle L*, Hernández-Illán E*, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Seguí N, Vargas G, Guarinos C, Juarez M, Sanjuán X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez- Soler M, Brunet J, González S, Jover R, Lázaro C, Capellá G, Pineda M, Soto JL, Blanco I. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Human Molecular Genetics 2014; 23(13):3506-12

 

  • Seguí N, Guinó E, Pineda M, Navarro M, Bellido F, Lázaro C, Blanco I, Moreno V, Capellá G, Valle L. Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer. PLoS One 2014; 9(2):e86063.

 

  • Seguí N, Pineda M, Navarro M, Lázaro C, Brunet J, Infante M, Durán M, Soto JL, Blanco I, Capellá G, Valle L. GALNT12 is not a major contributor of familial colorectal cancer type X. Human Mutation 2014; 35(1):50-2

 

  • Seguí N, Pineda M, Guinó E, Borràs E, Navarro M, Bellido F, Moreno V, Lázaro C, Blanco I, Capellá G, Valle L. Telomere length in Lynch syndrome: role as cancer risk factor and association with genetic anticipation. PLoS One 2013; 8:e61286

 

  • Bellido F*, Guinó E*, Jagmohan-Changur S, Seguí N, Pineda M, Navarro M, Lázaro C, Blanco I, Vasen HFA, Moreno V, Capella G, Wijnen JT, Valle L. Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome. European Journal of Human Genetics 2013; 21:511-516

 

  • Valle L. Debate about TGFBR1 and the susceptibility to colorectal cancer. Word Journal of Gastrointestestinal Oncology 2012; 4:1-8

 

  • Valle L, Capellá G, Moreno VR, Rennert G, Gruber SB. Reply: Allelic imbalance of TGFBR1 is not a major contributor to the genetic predisposition to colorectal cancer. British Journal of Cancer 2011; 104: 1519-1520

 

  • Seguí N, Stevens KN, Guinó E, Rozek LS, Moreno VR, Capellá G, Gruber SB, Valle L. No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations. British Journal of Cancer 2011; 104: 735-740

 

  • Guda K, Natale L, Lutterbaugh J, Wiesner GL, Lewis S, Tanner SM, Tomsic J, Valle L, de la Chapelle A, Elston RC, Willis J, Markowitz SD. Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients. Cancer Research 2009; 69: 4959-61

 

  • Zeng Q, Phukan S, Xu Y, Sadim M, Rosman DS, Pennison M, Liao J, Yang GY, Huang CC, Valle L, Di Cristofano A, de la Chapelle A, Pasche B. Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development. Cancer Research 2009; 60:678-86

 

  • Valle L, Serena-Acedo T,  Liyanarachchi S, Hampel H, Comeras I, Li Z, Zeng Q, Zhang HT, pensión MJ, Sadim M, Pasche B, Tanner SM, de la Chapelle A. Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer. Science 2008; 321:1361-65

 

  • Valle L, Urioste M. Reply to: Molecular Information Defines a New Entity of Hereditary Colorectal Cancer. Gastroenterology 2008; 134(3):889-90

 

  • Valle L, Carbonell P, Fernández V, Dotor AM, Sanz M, Benítez J, Urioste M. MLH1 germ-line epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clinical Genetics 2007; 71(3):232-7

 

  • Valle L*, Perea J*, Fernández V, Carbonell P, Dotor AM, Benítez J, Urioste M. Clinicopathological and pedigree differences in Amsterdam I-positive Hereditary Non-Polyposis Colorectal Cancer families according to tumor microsatellite instability status. Journal of  Clinical Oncology 2007; 25(7):781-6

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  • ​Valle L, Fernández V, Pérez-Pons C, Sánchez FG, Benítez J, Urioste M. Generation of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6Mb of 9q34 into de BCR region of chromosome 22. Hematological Oncology 2006; 24:86-8.

 

  • Valle L, Cascón A, Melchor L, Otero I, Rodríguez-Perales S, Sánchez L, Cruz Cigudosa J, Robledo M, Weber B, Urioste M, Benítez J. 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 2005; 13(5):570-8

 

  • Alvarez S, Diaz-Uriarte R, Osorio A, Barroso A, Melchor L, Paz MF, Honrado E, Rodríguez R,Urioste M, Valle L, Díez O, Cigudosa JC, Dopazo J, Esteller M, Benitez J. 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 2005; 11(3):1146-53

 

  • Martínez-Ramírez A, Urioste M, Melchor L, Blesa D, Valle L, de Andrés SA, Kok K, Calasanz MJ, Cigudosa JC, Benítez J. Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH array. Genes Chromosomes Cancer 2005; 42(3):287-98

 

  • Urioste M, Garcia-Andrade M del C, Valle L, Robledo M, González-Palacios F, Méndez R, Ferreirós J, Nuño J, Benítez J. Malignant degeneration of presacral teratoma in the Currarino anomaly. American Journal of  Medical Genetics A. 2004; 128A(3):299-304

 

  • Rodríguez-Perales S, Meléndez B, Gribble SM, Valle L, Carter NP, Santamaría I, Conde L,Urioste M, Benítez J, Cigudosa JC. 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 2004; 13(9):983-90

 

  • Rodriguez-Perales S, Martínez-Ramírez A, de Andrés SA, Valle L, Urioste M, Benítez J, Cigudosa JC. Molecular cytogenetic characterization of rhabdomyosarcoma cell lines. Cancer Genetics Cytogenetics 2004; 148(1):35-43​

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  • Valle L, Rodríguez-López R, Robledo M, Benítez J, Urioste M. Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member. Journal of Clinical Oncology 2004; 22(11):2252-3

 

  • Ballestar E, Paz MF, Valle L, Wei S, Fraga MF, Espada J, Cigudosa JC, Huang TH, Esteller M. Methyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer. EMBO Journal 2003; 22(23):6335-45

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