Publications by Mev Dominguez-Valentin

89 publications found

Publications 2025

  1. (2025)
    Metachronous colorectal cancer risks after extended or segmental resection in MLH1, MSH2, and MSH6 Lynch syndrome: multicentre study from the Prospective Lynch Syndrome Database
    Br J Surg, 112 (4)
    DOI 10.1093/bjs/znaf061, PubMed 40231433
  2. Apostol AI, Kotsopoulos J, Gronwald J, Kim RH, Karlan BY, Aeilts A, Cajal TRY, Pal T, Eisen A, Bordeleau L, Foulkes WD, Couch F, Zakalik D, Fruscio R, Sun P, Lubinski J, Tung N, Singer CF, Moller P, Dominguez-Valentin M, Narod SA, Metcalfe K, Hereditary Breast Cancer Clinical Study Group (2025)
    Ovarian cancer after breast cancer in women with a BRCA1 or BRCA2 pathogenic variant
    Gynecol Oncol, 201, 44-52 (in press)
    DOI 10.1016/j.ygyno.2025.07.030, PubMed 40784323
  3. Campos-Segura AV, Alvarez K, Murillo Carrasco AG, Rossi BM, Bohorquez M, Spirandelli F, Benavides C, Balto A, Della Valle A, Bruno LI, Lopez-Kostner F, Cruz-Correa M, Del Monte JS, Rugeles J, Ramirez JM, Nascimento I, Forones NM, Cock-Rada AM, Reyes-Silva C, Avila S, Apolinario L, Rossi NT, Martin C, Sulcahuaman Y, Vaccaro CA et al. (2025)
    Characterization of Screening Strategies for Lynch Syndrome in Latin America
    Clin Gastroenterol Hepatol, 23 (9), 1642-1654
    DOI 10.1016/j.cgh.2024.12.026, PubMed 40010418
  4. Dominguez-Valentin M (2025)
    Comment on Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort
    Eur J Hum Genet, 33 (7), 829-830
    DOI 10.1038/s41431-025-01853-6, PubMed 40295843
  5. Kohut K, Morton K, Turner L, Foster R, Bancroft EK, Burn J, Crosbie EJ, Dominguez-Valentin M, Esplen MJ, Hanson H, Hurley K, Moller P, Ryan N, Snape K, CanGene‐CanVar Patient Reference Panel, International Lynch Decision Aid Stakeholder Panel, Eccles D, Foster C (2025)
    Optimizing risk-reducing surgery and aspirin decision aids for Lynch syndrome carriers using the person-based approach: A think-aloud interview study
    J Genet Couns, 34 (4), e70089
    DOI 10.1002/jgc4.70089, PubMed 40772451
  6. Møller P, Ahadova A, Kloor M, Seppälä TT, Burn J, Haupt S, Macrae F, Dominguez-Valentin M, Möslein G, Lindblom A, Sunde L, Winship I, Capella G, Monahan K, Buchanan DD, Evans DG, Hovig E, Sampson JR (2025)
    Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences
    Hered Cancer Clin Pract, 23 (1), 3
    DOI 10.1186/s13053-025-00305-y, PubMed 39849512
  7. Møller P, Seppälä TT, Dominguez-Valentin M, Sampson J (2025)
    Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank
    J Med Genet, 62 (2), 53
    DOI 10.1136/jmg-2024-110385, PubMed 39375027

Publications 2024

  1. Akdeniz BC, Morris AH, Møller P, Andreassen O, Hovig E, Dominguez-Valentin M (2024)
    Evaluation of a combined model of Polygenic Risk Score and mismatch repair genes in the association of colorectal cancer for Norwegian cohort
    Tumori, 3008916241303648 (in press)
    DOI 10.1177/03008916241303648, PubMed 39654342
  2. Esperon P, Neffa F, Pavicic W, Spirandelli F, Alvarez K, Mullins MJ, Rossi BM, Góngora E Silva RF, Vaccaro C, Lopéz-Köstner F, Rugeles J, Valle AD, Dominguez-Valentin M (2024)
    A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
    Fam Cancer, 23 (4), 507-513
    DOI 10.1007/s10689-024-00382-3, PubMed 38687439
  3. Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV et al. (2024)
    Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
    Nat Genet, 56 (11), 2422-2433
    DOI 10.1038/s41588-024-01966-6, PubMed 39472694
  4. Møller P, Haupt S, Ahadova A, Kloor M, Sampson JR, Sunde L, Seppälä T, Burn J, Bernstein I, Capella G, Evans DG, Lindblom A, Winship I, Macrae F, Katz L, Laish I, Vainer E, Monahan K, Half E, Horisberger K, da Silva LA, Heuveline V, Therkildsen C, Lautrup C, Klarskov LL et al. (2024)
    Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes
    Hered Cancer Clin Pract, 22 (1), 6
    DOI 10.1186/s13053-024-00279-3, PubMed 38741120
  5. Soarez J, Vaccaro CA, Dominguez-Valentin M, Pavicic WH (2024)
    Editorial: Advances in genetics and molecular diagnosis in colorectal, stomach, and pancreatic cancer vol II
    Front Oncol, 14, 1448183
    DOI 10.3389/fonc.2024.1448183, PubMed 39050580
  6. van der Werf-'t Lam AS, Rodriguez-Girondo M, Villasmil M, Tops CM, van Hest L, Gille HJP, Duijkers FAM, Wagner A, Eikenboom E, Letteboer TGW, de Jong MM, Bajwa-Ten Broeke SW, Bleeker F, Gomez Garcia EB, Dominguez-Valentin M, Møller P, Suerink M, Nielsen M (2024)
    Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome
    Genes Chromosomes Cancer, 63 (5), e23237
    DOI 10.1002/gcc.23237, PubMed 38722212

Publications 2023

  1. Akdeniz BC, Mattingsdal M, Dominguez-Valentin M, Frei O, Shadrin A, Puustusmaa M, Saar R, Sõber S, Møller P, Andreassen OA, Padrik P, Hovig E (2023)
    A Breast Cancer Polygenic Risk Score Is Feasible for Risk Stratification in the Norwegian Population
    Cancers (Basel), 15 (16)
    DOI 10.3390/cancers15164124, PubMed 37627152
  2. Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A et al. (2023)
    Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
    EClinicalMedicine, 58, 101909
    DOI 10.1016/j.eclinm.2023.101909, PubMed 37181409
  3. Fernández-Ramires R, Margarit S, Morales S, Lazaro C, Álvarez S, Martin ES, Benavides C, Cammarata F, Encina G, Berkovits A, Gischkow G, Dominguez M, Espinosa-Parrilla Y, Echeverría C, Zapata-Contreras D, Soto G, Calegaro-Nassif M, Espinoza K, Sullcahuaman Y, Palmero E (2023)
    [Consensus for Oncology Genetic Counseling and Molecular Diagnosis: The Punta Arenas Statement]
    Rev Med Chil, 151 (9), 1262-1263
    DOI 10.4067/s0034-98872023000901262, PubMed 39093165
  4. Hodan R, Rodgers-Fouche L, Chittenden A, Dominguez-Valentin M, Ferriss J, Gima L, Hamnvik OR, Idos GE, Kline K, Koeller DR, Long JM, McKenna D, Muller C, Thoman M, Wintner A, Bedrick BS, Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (2023)
    Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
    Fam Cancer, 22 (4), 437-448
    DOI 10.1007/s10689-023-00341-4, PubMed 37341816
  5. Mraz KA, Hodan R, Rodgers-Fouche L, Arora S, Balaguer F, Guillem JG, Jeter JM, Kanth P, Li D, Liska D, Melson J, Perez K, Ricker C, Shirts BH, Vilar E, Katona BW, Dominguez-Valentin M (2023)
    Current chemoprevention approaches in Lynch syndrome and Familial adenomatous polyposis: a global clinical practice survey
    Front Oncol, 13, 1141810
    DOI 10.3389/fonc.2023.1141810, PubMed 37293588
  6. Møller P, Seppälä TT, Ahadova A, Crosbie EJ, Holinski-Feder E, Scott R, Haupt S, Möslein G, Winship I, Broeke SWB, Kohut KE, Ryan N, Bauerfeind P, Thomas LE, Evans DG, Aretz S, Sijmons RH, Half E, Heinimann K, Horisberger K, Monahan K, Engel C, Cavestro GM, Fruscio R, Abu-Freha N et al. (2023)
    Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement
    Hered Cancer Clin Pract, 21 (1), 19
    DOI 10.1186/s13053-023-00263-3, PubMed 37821984
  7. Rodgers-Fouche L, Arora S, Ricker C, Li D, Farooqi M, Balaguer F, Dominguez-Valentin M, Guillem JG, Kanth P, Liska D, Melson J, Mraz KA, Shirts BH, Vilar E, Katona BW, Hodan R (2023)
    Exploring Stakeholders' Perspectives on Implementing Universal Germline Testing for Colorectal Cancer: Findings From a Clinical Practice Survey
    JCO Precis Oncol, 7, e2300440
    DOI 10.1200/PO.23.00440, PubMed 37897815

Publications 2022

  1. Ahadova A, Witt J, Haupt S, Gallon R, Hüneburg R, Nattermann J, Ten Broeke S, Bohaumilitzky L, Hernandez-Sanchez A, Santibanez-Koref M, Jackson MS, Ahtiainen M, Pylvänäinen K, Andini K, Grolmusz VK, Möslein G, Dominguez-Valentin M, Møller P, Fürst D, Sijmons R, Borthwick GM, Burn J, Mecklin JP, Heuveline V, von Knebel Doeberitz M et al. (2022)
    Is HLA type a possible cancer risk modifier in Lynch syndrome?
    Int J Cancer, 152 (10), 2024-2031
    DOI 10.1002/ijc.34312, PubMed 36214792
  2. Cavestro GM, Mannucci A, Balaguer F, Hampel H, Kupfer SS, Repici A, Sartore-Bianchi A, Seppälä TT, Valentini V, Boland CR, Brand RE, Buffart TE, Burke CA, Caccialanza R, Cannizzaro R, Cascinu S, Cercek A, Crosbie EJ, Danese S, Dekker E, Daca-Alvarez M, Deni F, Dominguez-Valentin M, Eng C, Goel A et al. (2022)
    Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines
    Clin Gastroenterol Hepatol, 21 (3), 581-603.e33
    DOI 10.1016/j.cgh.2022.12.006, PubMed 36549470
  3. Dominguez-Valentin M, Sampson JR, Seppälä TT, Møller P (2022)
    Response to Chambuso et al
    Genet Med, 24 (5), 1151
    DOI 10.1016/j.gim.2022.01.005, PubMed 35216900
  4. Hodan R, Rodgers-Fouche L, Arora S, Dominguez-Valentin M, Kanth P, Katona BW, Mraz KA, Roberts ME, Vilar E, Soto-Azghani CM, Brand RE, Esplin ED, Perez K (2022)
    Patterns of germline and somatic testing after universal tumor screening for Lynch syndrome: A clinical practice survey of active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
    J Genet Couns, 31 (4), 949-955
    DOI 10.1002/jgc4.1567, PubMed 35218578
  5. Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K et al. (2022)
    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
    Hered Cancer Clin Pract, 20 (1), 36
    DOI 10.1186/s13053-022-00241-1, PubMed 36182917
  6. Vaccaro CA, Soarez J, Dominguez-Valentin M, Pavicic WH (2022)
    Editorial: Advances in genetics and molecular diagnosis in colorectal, stomach, and pancreatic cancer
    Front Oncol, 12, 1104671
    DOI 10.3389/fonc.2022.1104671, PubMed 36601476
  7. Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Corales EV, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M (2022)
    Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru
    Cancers (Basel), 14 (22)
    DOI 10.3390/cancers14225603, PubMed 36428697

Publications 2021

  1. Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Valle AD et al. (2021)
    No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
    J Clin Med, 10 (13)
    DOI 10.3390/jcm10132856, PubMed 34203177
  2. Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L, Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK, GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M et al. (2021)
    First international workshop of the ATM and cancer risk group (4-5 December 2019)
    Fam Cancer, 21 (2), 211-227
    DOI 10.1007/s10689-021-00248-y, PubMed 34125377
  3. Moller P, Sampson JR, Dominguez-Valentin M, Seppala TT (2021)
    Towards evidence-based personalised precision medicine for Lynch syndrome
    Lancet Oncol., 22 (9), E383
  4. Møller P, Sampson J, Dominguez-Valentin M, Burn J, Sunde L, Möslein G, Mecklin JP, Seppälä T (2021)
    Correction to: Letter to the Editor-Recent advances in Lynch syndrome
    Fam Cancer, 20 (2), 119
    DOI 10.1007/s10689-021-00246-0, PubMed 33792829
  5. Møller P, Sampson JR, Dominguez-Valentin M, Seppälä TT (2021)
    Towards evidence-based personalised precision medicine for Lynch syndrome
    Lancet Oncol, 22 (9), e383
    DOI 10.1016/S1470-2045(21)00400-9, PubMed 34478667
  6. Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W et al. (2021)
    Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
    Eur J Cancer, 148, 124-133
    DOI 10.1016/j.ejca.2021.02.022, PubMed 33743481
  7. Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G, European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) (2021)
    European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
    Br J Surg, 108 (5), 484-498
    DOI 10.1002/bjs.11902, PubMed 34043773
  8. Solis N, Zavaleta E, Wernhoff P, Dominguez-Barrera C, Dominguez-Valentin M (2021)
    Challenges to Bringing Personalized Medicine to a Low-Resource Setting in Peru
    Int J Environ Res Public Health, 18 (4)
    DOI 10.3390/ijerph18041470, PubMed 33557277

Publications 2020

  1. Ahadova A, Seppälä TT, Engel C, Gallon R, Burn J, Holinski-Feder E, Steinke-Lange V, Möslein G, Nielsen M, Ten Broeke SW, Laghi L, Dominguez-Valentin M, Capella G, Macrae F, Scott R, Hüneburg R, Nattermann J, Hoffmeister M, Brenner H, Bläker H, von Knebel Doeberitz M, Sampson JR, Vasen H, Mecklin JP, Møller P et al. (2020)
    The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance
    Int J Cancer, 148 (4), 800-811
    DOI 10.1002/ijc.33224, PubMed 32683684
  2. Álvarez K, Orellana P, De la Fuente M, Canales T, Pinto E, Heine C, Solar B, Hurtado C, Møller P, Kronberg U, Zarate AJ, Dominguez-Valentin M, López-Köstner F (2020)
    Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry
    J Clin Med, 9 (6)
    DOI 10.3390/jcm9061861, PubMed 32549215
  3. Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W et al. (2020)
    Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
    Genet Med, 23 (4), 705-712
    DOI 10.1038/s41436-020-01029-1, PubMed 33257847
  4. Dominguez-Valentin M, Sampson JR, Møller P, Seppälä TT, PLSD Collaborators (2020)
    Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum
    Int J Cancer, 148 (2), 512-513
    DOI 10.1002/ijc.33214, PubMed 32783184
  5. Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A et al. (2020)
    Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
    Genet Med, 22 (9), 1569
    DOI 10.1038/s41436-020-0892-4, PubMed 32690931
  6. Dominguez-Valentin M, Seppälä TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D et al. (2020)
    Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database
    J Clin Med, 9 (7)
    DOI 10.3390/jcm9072290, PubMed 32708519
  7. Hernández-Sandoval JA, Gutiérrez-Angulo M, Magaña-Torres MT, Alvizo-Rodríguez CR, Ramírez-Plascencia HHF, Flores-López BA, Valenzuela-Pérez JA, Peregrina-Sandoval J, Moreno-Ortiz JM, Domínguez-Valentín M, Ayala-Madrigal ML (2020)
    Prevalence of the BRAF p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations
    J Investig Med, 68 (5), 985-991
    DOI 10.1136/jim-2020-001301, PubMed 32184228
  8. Møller P, Dominguez-Valentin M, Rødland EA, Hovig E (2020)
    Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132
    Cancers (Basel), 12 (2)
    DOI 10.3390/cancers12020410, PubMed 32050665
  9. Møller P, Sampson J, Dominguez-Valentin M, Burn J, Sunde L, Möslein G, Mecklin JP, Seppälä T (2020)
    Letter to the Editor-Recent advances in Lynch syndrome
    Fam Cancer, 20 (2), 117-118
    DOI 10.1007/s10689-020-00200-6, PubMed 32770425
  10. Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH (2020)
    MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
    Fam Cancer, 19 (4), 323-336
    DOI 10.1007/s10689-020-00182-5, PubMed 32363481
  11. Seppälä TT, Dominguez-Valentin M, Sampson JR, Møller P (2020)
    Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)
    Fam Cancer, 20 (1), 35-39
    DOI 10.1007/s10689-020-00193-2, PubMed 32507935

Publications 2019

  1. Della Valle A, Rossi BM, Palmero EI, Antelo M, Vaccaro CA, López-Kostner F, Alvarez K, Cruz-Correa M, Bruno LI, Forones NM, Mindiola JAR, Buleje J, Spirandelli F, Bohorquez M, Cock-Rada AM, Sullcahuaman Y, Nascimento I, Abe-Sandes K, Lino-Silva LS, Petracchi F, Mampel A, Rodriguez Y, Rossi NT, Yañez CB, Rubio C et al. (2019)
    A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries
    Eur J Cancer, 119, 112-121
    DOI 10.1016/j.ejca.2019.07.017, PubMed 31442815
  2. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E (2019)
    Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
    Sci Rep, 9 (1), 18555
    DOI 10.1038/s41598-019-54517-z, PubMed 31811167
  3. Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A et al. (2019)
    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
    Genet Med, 22 (1), 15-25
    DOI 10.1038/s41436-019-0596-9, PubMed 31337882
  4. Dominguez-Valentin M, Seppälä TT, Sampson JR, Macrae F, Winship I, Evans DG, Scott RJ, Burn J, Möslein G, Bernstein I, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lindblom A, Plazzer JP, Tjandra D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Vidal JB et al. (2019)
    Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
    Hered Cancer Clin Pract, 17, 28
    DOI 10.1186/s13053-019-0127-3, PubMed 31636762
  5. Møller P, Dominguez-Valentin M, Rødland EA, Hovig E (2019)
    Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift
    Cancers (Basel), 11 (2)
    DOI 10.3390/cancers11020132, PubMed 30678073
  6. Sampson JR, Dominguez-Valentin M, Seppälä TT, Møller P (2019)
    Response to Tolva et al
    Genet Med, 22 (4), 813-814
    DOI 10.1038/s41436-019-0717-5, PubMed 31801985
  7. Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Hüneburg R, Holzapfel S, Heinimann K et al. (2019)
    Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
    Hered Cancer Clin Pract, 17, 8
    DOI 10.1186/s13053-019-0106-8, PubMed 30858900

Publications 2018

  1. Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
    Hered Cancer Clin Pract, 16, 4
    DOI 10.1186/s13053-018-0086-0, PubMed 29371908
  2. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
    Fam Cancer, 17 (1), 141-153
    DOI 10.1007/s10689-017-0011-0, PubMed 28608266
  3. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Identification of genetic variants for clinical management of familial colorectal tumors
    BMC Med Genet, 19 (1), 26
    DOI 10.1186/s12881-018-0533-9, PubMed 29458332
  4. González ML, Causada-Calo N, Santino JP, Dominguez-Valentin M, Ferro FA, Sammartino I, Kalfayan PG, Verzura MA, Piñero TA, Cajal AR, Pavicic W, Vaccaro C (2018)
    Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort
    Fam Cancer, 17 (3), 395-402
    DOI 10.1007/s10689-017-0052-4, PubMed 29128931
  5. Ibrahim I, Dominguez-Valentin M, Segal B, Zeitouni A, da Silva SD (2018)
    Mitochondrial mutations associated with hearing and balance disorders
    Mutat Res, 810, 39-44
    DOI 10.1016/j.mrfmmm.2018.03.003, PubMed 29615272
  6. Köger N, Paulsen L, López-Kostner F, Della Valle A, Vaccaro CA, Palmero EI, Alvarez K, Sarroca C, Neffa F, Kalfayan PG, Gonzalez ML, Rossi BM, Reis RM, Brieger A, Zeuzem S, Hinrichsen I, Dominguez-Valentin M, Plotz G (2018)
    Evaluation of MLH1 variants of unclear significance
    Genes Chromosomes Cancer, 57 (7), 350-358
    DOI 10.1002/gcc.22536, PubMed 29520894
  7. Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D et al. (2018)
    From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
    Int J Cancer, 145 (2), 318-326
    DOI 10.1002/ijc.31920, PubMed 30303536

Publications 2017

  1. Bahador M, Gras Navarro A, Rahman MA, Dominguez-Valentin M, Sarowar S, Ulvestad E, Njølstad G, Lie SA, Kristoffersen EK, Bratland E, Chekenya M (2017)
    Increased infiltration and tolerised antigen-specific CD8+ TEM cells in tumor but not peripheral blood have no impact on survival of HCMV+ glioblastoma patients
    Oncoimmunology, 6 (8), e1336272
    DOI 10.1080/2162402X.2017.1336272, PubMed 28919997
  2. Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M et al. (2017)
    Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
    Gut, 67 (7), 1306-1316
    DOI 10.1136/gutjnl-2017-314057, PubMed 28754778
  3. Rossi BM, Palmero EI, López-Kostner F, Sarroca C, Vaccaro CA, Spirandelli F, Ashton-Prolla P, Rodriguez Y, de Campos Reis Galvão H, Reis RM, Escremim de Paula A, Capochin Romagnolo LG, Alvarez K, Della Valle A, Neffa F, Kalfayan PG, Spirandelli E, Chialina S, Gutiérrez Angulo M, Castro-Mujica MDC, Sanchez de Monte J, Quispe R, da Silva SD, Rossi NT, Barletta-Carrillo C et al. (2017)
    A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
    BMC Cancer, 17 (1), 623
    DOI 10.1186/s12885-017-3599-4, PubMed 28874130

Publications 2016

  1. DA Silva FC, Wernhoff P, Dominguez-Barrera C, Dominguez-Valentin M (2016)
    Update on Hereditary Colorectal Cancer
    Anticancer Res, 36 (9), 4399-405
    DOI 10.21873/anticanres.10983, PubMed 27630275
  2. Dominguez-Valentin M, Gras Navarro A, Rahman AM, Kumar S, Retière C, Ulvestad E, Kristensen V, Lund-Johansen M, Lie BA, Enger PØ, Njølstad G, Kristoffersen E, Lie SA, Chekenya M (2016)
    Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
    Cancer Res, 76 (18), 5326-36
    DOI 10.1158/0008-5472.CAN-16-1162, PubMed 27406829
  3. Dominguez-Valentin M, Joost P, Therkildsen C, Jonsson M, Rambech E, Nilbert M (2016)
    Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
    BMC Urol, 16, 15
    DOI 10.1186/s12894-016-0130-1, PubMed 27013479
  4. Dominguez-Valentin M, Wernhoff P, Cajal AR, Kalfayan PG, Piñero TA, Gonzalez ML, Ferro A, Sammartino I, Causada Calo NS, Vaccaro CA (2016)
    MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome
    Front Oncol, 6, 189
    DOI 10.3389/fonc.2016.00189, PubMed 27606285
  5. Vaccaro CA, Sarroca C, Rossi B, Lopez-Kostner F, Dominguez M, Calo NC, Cutait R, Valle AD, Nuñez L, Neffa F, Alvarez K, Gonzalez ML, Kalfayan P, Lynch HT, Church J (2016)
    Lynch syndrome in South America: past, present and future
    Fam Cancer, 15 (3), 437-45
    DOI 10.1007/s10689-016-9903-7, PubMed 27007491

Publications 2015

  1. Joost P, Therkildsen C, Dominguez-Valentin M, Jönsson M, Nilbert M (2015)
    Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations
    Urology, 86 (6), 1212-7
    DOI 10.1016/j.urology.2015.08.018, PubMed 26385421

Publications 2014

  1. Dominguez-Valentin M, Drost M, Therkildsen C, Rambech E, Ehrencrona H, Angleys M, Lau Hansen T, de Wind N, Nilbert M, Juel Rasmussen L (2014)
    Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein
    Mol Genet Genomic Med, 2 (4), 352-5
    DOI 10.1002/mgg3.80, PubMed 25077178
  2. Dominguez-Valentin M, Therkildsen C, Da Silva S, Nilbert M (2014)
    Familial colorectal cancer type X: genetic profiles and phenotypic features
    Mod Pathol, 28 (1), 30-6
    DOI 10.1038/modpathol.2014.49, PubMed 24743215
  3. Jönsson JM, Bartuma K, Dominguez-Valentin M, Harbst K, Ketabi Z, Malander S, Jönsson M, Carneiro A, Måsbäck A, Jönsson G, Nilbert M (2014)
    Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome
    Fam Cancer, 13 (4), 537-45
    DOI 10.1007/s10689-014-9728-1, PubMed 24848881
  4. Jönsson JM, Johansson I, Dominguez-Valentin M, Kimbung S, Jönsson M, Bonde JH, Kannisto P, Måsbäck A, Malander S, Nilbert M, Hedenfalk I (2014)
    Molecular subtyping of serous ovarian tumors reveals multiple connections to intrinsic breast cancer subtypes
    PLoS One, 9 (9), e107643
    DOI 10.1371/journal.pone.0107643, PubMed 25226589
  5. Ñique Carbajal C, Sánchez Renteria F, Lettiero B, Wernhoff P, Domínguez-Valentin M (2014)
    [Molecular characterization of hereditary colorectal cancer in Peru]
    Rev Gastroenterol Peru, 34 (4), 299-303
    PubMed 25594752
  6. Styring E, Seinen J, Dominguez-Valentin M, Domanski HA, Jönsson M, von Steyern FV, Hoekstra HJ, Suurmeijer AJ, Nilbert M (2014)
    Key roles for MYC, KIT and RET signaling in secondary angiosarcomas
    Br J Cancer, 111 (2), 407-12
    DOI 10.1038/bjc.2014.359, PubMed 24983371

Publications 2013

  1. Dominguez-Valentin M, Nilbert M, Wernhoff P, López-Köstner F, Vaccaro C, Sarroca C, Palmero EI, Giraldo A, Ashton-Prolla P, Alvarez K, Ferro A, Neffa F, Caris J, Carraro DM, Rossi BM (2013)
    Mutation spectrum in South American Lynch syndrome families
    Hered Cancer Clin Pract, 11 (1), 18
    DOI 10.1186/1897-4287-11-18, PubMed 24344984
  2. Dominguez-Valentin M, Therkildsen C, Veerla S, Jönsson M, Bernstein I, Borg A, Nilbert M (2013)
    Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x
    PLoS One, 8 (8), e71755
    DOI 10.1371/journal.pone.0071755, PubMed 23951239

Publications 2012

  1. Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ (2012)
    Functional characterization of MLH1 missense variants identified in Lynch syndrome patients
    Hum Mutat, 33 (12), 1647-55
    DOI 10.1002/humu.22153, PubMed 22753075
  2. Monteiro Santos EM, Valentin MD, Carneiro F, de Oliveira LP, de Oliveira Ferreira F, Junior SA, Nakagawa WT, Gomy I, de Faria Ferraz VE, da Silva Junior WA, Carraro DM, Rossi BM (2012)
    Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries
    BMC Cancer, 12, 64
    DOI 10.1186/1471-2407-12-64, PubMed 22321913
  3. Therkildsen C, Jönsson G, Dominguez-Valentin M, Nissen A, Rambech E, Halvarsson B, Bernstein I, Borg K, Nilbert M (2012)
    Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer
    Eur J Cancer, 49 (6), 1226-35
    DOI 10.1016/j.ejca.2012.11.011, PubMed 23245329
  4. Valentin MD, Da Silva FC, Santos EM, Da Silva SD, De Oliveira Ferreira F, Aguiar Junior S, Gomy I, Vaccaro C, Redal MA, Della Valle A, Sarroca C, Rasmussen LJ, Carraro DM, Rossi BM (2012)
    Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome
    Anticancer Res, 32 (10), 4347-51
    PubMed 23060557
  5. Valentin MD, da Silva SD, Privat M, Alaoui-Jamali M, Bignon YJ (2012)
    Molecular insights on basal-like breast cancer
    Breast Cancer Res Treat, 134 (1), 21-30
    DOI 10.1007/s10549-011-1934-z, PubMed 22234518

Publications 2011

  1. da Silva SD, Ferlito A, Takes RP, Brakenhoff RH, Valentin MD, Woolgar JA, Bradford CR, Rodrigo JP, Rinaldo A, Hier MP, Kowalski LP (2011)
    Advances and applications of oral cancer basic research
    Oral Oncol, 47 (9), 783-91
    DOI 10.1016/j.oraloncology.2011.07.004, PubMed 21802978
  2. Valentin MD, da Silva FC, dos Santos EM, Lisboa BG, de Oliveira LP, Ferreira Fde O, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM (2011)
    Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals
    Fam Cancer, 10 (4), 641-7
    DOI 10.1007/s10689-011-9461-y, PubMed 21681552

Publications 2010

  1. da Silva FC, de Oliveira LP, Santos EM, Nakagawa WT, Aguiar Junior S, Valentin MD, Rossi BM, de Oliveira Ferreira F (2010)
    Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry
    Fam Cancer, 9 (4), 563-70
    DOI 10.1007/s10689-010-9373-2, PubMed 20697958

Publications 2009

  1. Dominguez MV, Bastos EP, Silva SD, Rossi BM (2009)
    [Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]
    Rev Gastroenterol Peru, 29 (3), 247-53
    PubMed 19898597
  2. Silva FC, Valentin MD, Ferreira Fde O, Carraro DM, Rossi BM (2009)
    Mismatch repair genes in Lynch syndrome: a review
    Sao Paulo Med J, 127 (1), 46-51
    DOI 10.1590/s1516-31802009000100010, PubMed 19466295
  3. Valentin MD, Canalle R, Queiroz Rde P, Tone LG (2009)
    Frequency of polymorphisms and protein expression of cyclin-dependent kinase inhibitor 1A (CDKN1A) in central nervous system tumors
    Sao Paulo Med J, 127 (5), 288-94
    DOI 10.1590/s1516-31802009000500008, PubMed 20169278

Publications 2008

  1. Dominguez MV, Bastos EP, Santos EM, Oliveira LP, Ferreira FO, Carraro DM, Rossi BM (2008)
    Two new MLH1 germline mutations in Brazilian Lynch syndrome families
    Int J Colorectal Dis, 23 (12), 1263-4
    DOI 10.1007/s00384-008-0515-z, PubMed 18594839

 
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