Bassaneze T, Oliveira Ferreira F, Sandoval RL, Pisani JP, Vanessa Quirino C, Rodrigues de Nicola PD, Achatz MI, Dominguez-Valentin M, Rossi BM(2026) Cancer Spectrum and Gene-Specific Patterns in Lynch Syndrome: Insights From 47 Families in a Brazilian Institutional Cohort JCO Glob Oncol, 12(5), e2500708 DOI 10.1200/GO-25-00708, PubMed 42160694
De Nicolo A, Eccles DM, Aaltonen K, Alhopuro P, Ariansen SL, Biancolella M, Caputo SM, Caron O, Cavalli P, Chiang J, Claes KBM, Cuaresma ECS, de la Hoya M, De Pauw A, Díez O, Domínguez-Valentin M, Ehrencrona H, Fjeldvær MK, Fostira F, Francia MBD, Galego-Carro J, Gómez García EB, Hassan NT, Hauke J, Hirasawa A, Huang X, Ilagan-Cargullo EMH, Imoto I, Jonnagadla S, Karthikeyan Met al.(2026) Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages J Med Genet, 63(9), 548-553 DOI 10.1136/jmg-2026-111498, PubMed 42135054
Dominguez-Valentin M(2026) Transitioning from the Prospective Lynch Syndrome Database (PLSD) to the International Lynch Syndrome Database (ILSD) Fam Cancer, 25(3) DOI 10.1007/s10689-026-00583-y, PubMed 42384222
Kohut K, Kuti JA, Balladares S, Reents N, Sayyed R, Mauro Rossi B, Balazar-Palacios J, Adenipekun B, Battisti NML, László Dégi C, Dominguez-Valentin M(2026) Aligning awareness, systems and policy to increase equitable access to genomically driven cancer care BMJ Oncol, 5(2), e000856 DOI 10.1136/bmjonc-2025-000856, PubMed 42688961
Marchetti C, Gultekin M, Sassu CM, Planchamp F, Ellis LB, Bowden SJ, Theodoulidis V, Kesic V, Ataseven B, Scambia G, Lécuru F, Genuardi M, Dominguez-Valentin M, Seppälä TT, Amant F, Grigore M, Polterauer S, Temiz BE, Ege HV, Duranti S, Bizzarri N, Didelot H, Pauly N, Seebacher-Shariat V, Manchanda R, Kyrgiou M(2026) ESGO Consensus Statement on endometrial cancer prevention, risk reduction strategies, and management of women with Lynch syndrome Eur J Cancer, 240, 116739 DOI 10.1016/j.ejca.2026.116739, PubMed 42090914
Monda SM, Else T, Zhu A, Kaffenberger SD, Humble RM, Reichert ZR, Morgan TM, Chandrasekar T, Dominguez-Valentin M, Stoffel EM, Singhal U(2026) Germline testing in urothelial cancer: A narrative review of evidence, guidelines, and testing frameworks Urol Oncol, 44(9), 298-304 DOI 10.1016/j.urolonc.2026.07.004, PubMed 42521559
Zeuzem N, Quilan M, Dominguez-Valentin M, Baert-Desurmont S, Horlacher M, Della Valle A, Esperon P, Neffa F, Bonfim Machado-Lopes TM, de Oliveira Nascimento IL, Pereira Toralles MB, Bomfim-Palma TF, Pavicic WH, Vaccaro CA, Spirandelli F, Santamaria-Quesada C, Jimenez G, Vaca-Paniagua F, Perdomo S, López Rivera JJ, Torrezan GT, Carraro DM, Brieger A, Serve H, Martins A, Plotz G(2026) Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants Eur J Hum Genet, 34(9), 1342-1354 DOI 10.1038/s41431-026-02072-3, PubMed 41851261
Publications 2025
(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
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 DOI 10.1016/j.ygyno.2025.07.030, PubMed 40784323
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, Castro-Mujica MDC, Muñeton Peña CM, Assis RB, Silveira-Lucas E, Badir Cet 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
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
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
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
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
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
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
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, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall Eet 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
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, Cavestro GM, Möslein G, Hovig E, Dominguez-Valentin M(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
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
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
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
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, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela Ket 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
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
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
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
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, Zohar L, Laghi L, Bertario L, Bonanni B, Tibiletti MGet 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
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
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, Seppälä T, Kloor M(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
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, Guillem JG, Houwen BBSL, Kahi C, Kalady MF, Kastrinos Fet 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
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
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
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, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz Let 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
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
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
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, Lopez-Kostner F, Alvarez K, Gluck N, Katz L, Heinimann Ket 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
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, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE, CARRIERS and Ambry Groupset 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
Moller P, Sampson JR, Dominguez-Valentin M, Seppala TT(2021) Towards evidence-based personalised precision medicine for Lynch syndrome Lancet Oncol., 22(9), E383
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
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
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, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder Eet 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
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
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
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, Kloor M(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
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
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, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder Eet 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
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
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, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CAet 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
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, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange Vet 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
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
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
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
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
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
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, Petta-Lajus TB, Silveira-Lucas EL, Jiménez G, Peña CMM, Reyes-Silva Cet 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
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
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, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CAet 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
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, Rønlund K, Nielsen RT, Yilmaz M, Elvang LL, Katz Let 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
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
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
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, Valle AD, Neffa F, Gluck N, de Vos Tot Nederveen Cappel WH, Vasen Het 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
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
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
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
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
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
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
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, Cardoso FC, Torrezan GT, Junior SA, Pimenta CAM, da Cruz Formiga MNet 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
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
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, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo Let 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
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, Revollo S, Taborga X, Morillas LL, Tubeuf H, Monteiro-Santos EMet 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Kohut K, Kuti JA, Balladares S, Reents N, Sayyed R, Mauro Rossi B, Balazar-Palacios J, Adenipekun B, Battisti NML, László Dégi C, Dominguez-Valentin M(2026) Aligning awareness, systems and policy to increase equitable access to genomically driven cancer care BMJ Oncol, 5(2), e000856 DOI 10.1136/bmjonc-2025-000856, PubMed 42688961
Monda SM, Else T, Zhu A, Kaffenberger SD, Humble RM, Reichert ZR, Morgan TM, Chandrasekar T, Dominguez-Valentin M, Stoffel EM, Singhal U(2026) Germline testing in urothelial cancer: A narrative review of evidence, guidelines, and testing frameworks Urol Oncol, 44(9), 298-304 DOI 10.1016/j.urolonc.2026.07.004, PubMed 42521559
Dominguez-Valentin M(2026) Transitioning from the Prospective Lynch Syndrome Database (PLSD) to the International Lynch Syndrome Database (ILSD) Fam Cancer, 25(3) DOI 10.1007/s10689-026-00583-y, PubMed 42384222