Mev Dominguez Valentin

1. Jesús Arturo Hernández-Sandoval, Melva Gutiérrez-Angulo , María Teresa Magaña-Torres,…,Mev Domínguez-Valentín, María de la Luz Ayala-Madrigal. The BRAF V600E mutation rate in colorectal cancer patients from Western Mexico regarding Latin America and the Caribbean populations. Journal of Investigative Medicine. 2020.
2. Sampson J, Dominguez-Valentin M, Seppälä T & Møller P. Response to Tolva G et al. Genet Med. 2019. doi:10.1038/s41436-019-0717-5
3. Dominguez-Valentin M, Nakken, Tubeuf H, et al. Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing. Scientific Reports 2019.
4. Dominguez-Valentin M, Seppälä T,….& Møller P. Survival by colon cancer stage and screening interval in Lynch Syndrome: a Prospective Lynch Syndrome Database report. Hered Cancer Clin Pract. 2019. doi: 10.1186/s13053-019-0127-3
5. Dominguez-Barrera C, Mujica-Castro MC, Nique C, Dominguez-Valentin M. Update in hereditary CRC and impact in Public Health. Rev Fac Med de la Univ Nacional de Colombia 2019 (in press).
6. Della Valle, Edenir Inêz Palmero, Benedito Mauro Rossi,,,,& Mev Dominguez-Valentin. Lynch syndrome registries, structure and research in Latin America. European Journal of Cancer 119 (2019). 112e121.
7. Dominguez-Valentin M, Sampson J, Seppälä T…... & Møller P. Cancer risks by age and gender in 6,350 carriers of pathogenic mismatch repair gene variants: Findings from the Prospective Lynch Syndrome Database. Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0596-9.
8. Seppälä T, Ahadova A, Dominguez-Valentin M,….& Møller P. Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by overdiagnosis; a Prospective Lynch Syndrome Database report. Hered Cancer Clin Pract. 2019 Feb 28;17:8. doi: 10.1186/s13053-019-0106-8.
9. Møller P, Dominguez-Valentin M, Rødland EA, Hovig E. Causes for frequent pathogenic BRCA1 variants include low penetrance in fertile ages, recurrent de-novo mutations and genetic drift. Cancers 2019, 11(2), 132; https://doi.org/10.3390/cancers11020132
10. Vaccaro CA, Lopez-Kostner F, Della Valle A, Rossi, BM,… & Dominguez-Valentin M. From colorectal cancer pattern in Latin America to the characterization of individuals at risk: bases for genetic counseling and hereditary registers. Int J Cancer 2018. doi: 10.1002/ijc.31920
11. Ibrahim I, Dominguez-Valentin M, Segal B, Zeitouni A, Da Silva SD. Mitochondrial mutations associated with hearing and balance disorders. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 2018. doi: 10.1016/j.mrfmmm.2018.03.003
12. Nicole Köger, Lea Paulsen, Francisco Lopez-Koestler, Carlos Sarroca, Carlos Vaccaro…., Mev Dominguez-Valentin & Guido Plotz. Functional and clinical evaluation of MLH1 variants of unclear significance. Gene, Chromosome and Cancer 2018. doi: 10.1002/gcc.22536
13. Dominguez-Valentin M, Nakken S, Vodak D, et al. Identification of genetic variants for clinical management of familial colorectal cancer. BMC Medical Genetics. 2018. doi :10.1186/s12881-018-0533-9
14. Dominguez-Valentin M, D. Gareth R. Evans, et al. Novel genetic variants in BRCA1/BRCA2 kindreds associated with breast cancer in patients without pathogenic BRCA1/2 variants Hered Cancer Clin Prac 2018. https://doi.org/10.1186/s13053-018-0086-0
15. 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. Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort. Fam Cancer. 2017 Nov 11. doi: 10.1007/s10689-017-0052-4.
16. Rossi BM, Palmero EI, López-Kostner F, Sarroca C, Vaccaro CA, ,,,, Dominguez-Valentin M. A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. BMC Cancer. 2017 Sep 5;17(1):623. doi: 10.1186/s12885-017-3599-4.
17. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E. Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. Fam Cancer. 2017 Jun 12. doi: 10.1007/s10689-017-0011-0.
18. Bahador M, Gras Navarro A, Rahman MA, Dominguez-Valentin M, Sarowar S, Ulvestad E, Njølstad G, Lie SA, Kristoffersen EK, Bratland E, Chekenya M. 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. 2017 Jun 5;6(8):e1336272. doi: 10.1080/2162402X.2017.1336272. eCollection 2017.
19. Møller P, Toni Seppälä, Inge Bernstein, ..., Dominguez-Valentin M,... et al. 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 2018;67:1306-1316.
20. Carneiro F, Wernhoff P, Dominguez-Barrera C & Dominguez-Valentin M. Update in Hereditary Colorectal Cancer. Anticancer Res 2016, Volume 36. doi: 10.21873/anticanres.10983
21. Dominguez-Valentin M, Wernhoff P, et al. I219V MLH1 Polymorphism in Argentinean hereditary colorectal cancer. Front. Oncol. 2016, 6:189. doi: 10.3389/fonc.2016.00189
22. Dominguez Valentin M, Gras Navarro A, Rahman AM et al. Identification of a natural killer cell receptor allele that prolongs survival of cytomegalovirus-positive glioblastoma patients Cancer Res. 2016 Jul 12. DOI: 10.1158/0008-5472.CAN-16-1162
23. Vaccaro C, Sarroca S, Lopez-Kostner F, Rossi BM, Dominguez M et al. Lynch Syndrome in South America: Past, Present and Future. Familial Cancer 2016. DOI: 10.1007/s10689-016-9903-7
24. Dominguez-Valentin M, Joost P, Jonsson M et al. Frequent Mismatch-repair Defects Link Prostate Cancer to Lynch Syndrome BMC Urology 2016. DOI: 10.1186/s12894-016-0130-1
25. Joost P, Therkildsen C, Dominguez-Valentin M et al. Urinary Tract Cancer in Lynch Syndrome; increased risk in carriers of MSH2 gene mutations. Urology 2015. DOI: 10.1016/j.urology.2015.08.018.
26. Dominguez-Valentin M et al. International society for gastrointestinal hereditary tumours—InSiGHT. Familial Cancer 2015, Volume 14, Issue 1 Supplement, pp 66, 80. DOI: 10.1007/s10689-015-9808-x
27. Dominguez-Valentin M, Therkildsen C, Da Silva SD, Nilbert M. Familial Colorectal Cancer Type X: genetic profiles and phenotypic features. Modern Pathol 2014 Jan 28(1):30-36. DOI: 10.1038/modpathol.2014.49.
28. Nique C, Sanchez F, Lettiero B, Wernhoff P, Dominguez-Valentin M. Molecular features of hereditary colorectal cancer in Peru. Rev Gastroenterol Peru 2014 34(4) 299-303.
29. Jönsson J, Johansson I, Dominguez-Valentin M, et al. Molecular subtyping of serous ovarian tumors reveals multiple connections to intrinsic breast cancer subtypes. Plos One 2014. DOI: 10.1371/journal.pone.0107643
30. Styring E, Seinen J, Dominguez-Valentin M, et al. Genetic Profiles in secondary angiosarcomas suggest involvement of the RET pathway. Br J Cancer 2014 Jul 15;111(2):407-12. DOI: 10.1038/bjc.2014.359.
31. Jönsson J, Bartuma K, Dominguez-Valentin M et al. Global gene expression profiles in ovarian cancer linked to Lynch syndrome. Fam Cancer 2014. DOI: 10.1007/s10689-014-9728-1
32. Nique C, Sanchez F, Wernhoff P, Dominguez-Valentin M. Identification of hereditary colorectal cancer: Lynch Syndrome. Rev. cuerpo méd. HNAAA 7(1) 2014.
33. Dominguez-Valentin M, Drost M, Therkildsen C et al. Functional Implications of the p.Cys680Arg alteration in MLH1. Mol Genet Genomic Med 2014. DOI: 10.1002/mgg3.80
34. Thompson BA, Spurdle AB, Plazzer JP… Valentin MD et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 2014. DOI: 10.1038/ng.2854
35. Dominguez-Valentin M, Nilbert M, Wernhoff P, et al. Mutation Spectrum in South American Lynch Syndrome Families. Hered Cancer Clin Prac 2013, 11:18. DOI:10.1186/1897-4287-11-18
36. Dominguez-Valentin M, Therkildsen C, Veerla S et al. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X. PLoS ONE 2013 8(8): e71755. DOI:10.1371/journal.pone.0071755
37. Therkildsen C, Jönsson G, Dominguez-Valentin M et al. Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. Eur J Cancer. 2013 Apr;49(6):1226-35
38. Valentin MD, Da Silva FC, Santos EMM et al. Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome Anticancer Res. 2012 October; 32 (10) 4347-51.
39. Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M et al. Functional characterization of MLH1 missense variants identified in Lynch Syndrome patients. Hum Mutat. 2012 Jul 2. DOI: 10.1002/humu.22153.
40. Monteiro ES, Valentin MD, Carneiro F et al. Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries. BMC Cancer. 2012 Feb 9;12(1):64.
41. Valentin MD, da Silva SD, Privat M, Alaoui-Jamali M, Bignon YJ. Molecular insights on basal-like breast cancer. Breast Cancer Res Treat. 2012 Jul; 134(1):21-30. DOI: 10.1007/s10549-011-1934-z.
42. Silva SD, Ferlito A, Takes RP, Brakenhoff RH, Valentin MD et al. Advances and applications of oral cancer basic research. Oral Oncol. 2011 Sep;47(9):783-91. Review.
43. Valentin MD, Silva FC, Santos EM et al. Characterization of germline mutations of MLH1 and MSH2 in unrelated South American suspected Lynch syndrome individuals. Fam Cancer. 2011 Dec;10(4):641-7.
44. Silva FC, Valentin MD, Santos EM et al. Diagnosis and Management of Lynch Syndrome. Recent Patents on Regenerative Medicine. 2011 v. 1, p. 1-12.
45. Dominguez M, Bidet Y, Privat M et al. Whole genomic approach of basal like breast cancer. ECIPerú. 2011 Jan; 8:1, p.39-43. ISSN 1813-0194.
46. Silva FC, Oliveira LP, Santos EM, Nakagawa WT, Aguiar Junior S; Valentin MD et al. Frequency of extracolonic tumors in Brazilian families with Lynch Syndrome: Analysis of a Hereditary Colorectal Cancer Institutional Register. Fam Cancer. 2010 Dec;9(4):563-70.
47. Dominguez MV, Bastos EP, Da Silva SD, Rossi BM. Molecular methods for the detection of germline mutations in hereditary colorectal cancer. Rev Gastroenterol Peru. 2009 v. 29, p. 247-53.
48. Silva FC, Valentin MD, Ferreira FO, Carraro DM, Rossi BM. Mismatch repair genes in Lynch syndrome: a review. São Paulo Med J. 2009 v. 127, p. 46-51.
49. Valentin MD, Canalle R, Queiroz R, Tone LG. Frequency of polymorphisms and protein expression of cyclin-dependent kinase inhibitor 1A (CDKN1A) gene in central nervous system tumors. São Paulo Med J. 2009 v. 127, p. 288-94.
50. Dominguez MV, Bastos EP, Monteiro ES et al. Two new MLH1 germline mutations in Brazilian Lynch Syndrome Families. Int J Colorectal Dis. 2008 v. 23, p. 1263-4.
51. Rangel MC, Da Silva SD, Pereira NC, Dominguez MV. Essentials of Molecular Biology in Cancer Research. Applied Cancer Research. 2008 v.28, p. 2-10.
52. Pilco P, Chavez I, Sanchez J, Payet E, Young F, Berrospi F, León J, Dominguez MV, Calvacanti F. Recurrence Factors in Stage II Colon Cancer. Applied Cancer Research. 2007 v. 27, p. 6-11.