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
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
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 et al. (2025)
Characterization of Screening Strategies for Lynch Syndrome in Latin America
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
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
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
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
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
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
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
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
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
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
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
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
58, 101909
DOI 10.1016/j.eclinm.2023.101909, PubMed 37181409

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
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
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
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
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?
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
11 (2)
DOI 10.3390/cancers11020132, PubMed 30678073

Sampson JR, Dominguez-Valentin M, Seppälä TT, Møller P (2019)
Response to Tolva et al
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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, Della Valle A, Nunez 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), 437-445
DOI 10.1007/s10689-016-9903-7

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
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
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
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
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
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]
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
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
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
8 (8), e71755
DOI 10.1371/journal.pone.0071755, PubMed 23951239

Publications 2012

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
49 (6), 1226-35
DOI 10.1016/j.ejca.2012.11.011, PubMed 23245329

Publications 2009

Dominguez MV, Bastos EP, Silva SD, Rossi BM (2009)
[Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]
29 (3), 247-53
PubMed 19898597

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
23 (12), 1263-4
DOI 10.1007/s00384-008-0515-z, PubMed 18594839