Publications 2024

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 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

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

Møller P, Seppälä TT, Dominguez-Valentin M, Sampson J (2024)
Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank
J Med Genet (in press)
DOI 10.1136/jmg-2024-110385, PubMed 39375027

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 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

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 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

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 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

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

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 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

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 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

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

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 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

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 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

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 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

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 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

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

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 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

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 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

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

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 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

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 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

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⁺ T_EM 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 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

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

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