Mev Dominguez-Valentin
- Scientist; PhD
- +47 22 78 17 86
Publications 2024
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
Fam Cancer (in press)
DOI 10.1007/s10689-024-00382-3, PubMed 38687439
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
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
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
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
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
[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
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
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
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
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
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
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
Response to Chambuso et al
Genet Med, 24 (5), 1151
DOI 10.1016/j.gim.2022.01.005, PubMed 35216900
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
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
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
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
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
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
Towards evidence-based personalised precision medicine for Lynch syndrome
Lancet Oncol., 22 (9), E383
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
Towards evidence-based personalised precision medicine for Lynch syndrome
Lancet Oncol, 22 (9), e383
DOI 10.1016/S1470-2045(21)00400-9, PubMed 34478667
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
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
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
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
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
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
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
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
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
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
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
Letter to the Editor-Recent advances in Lynch syndrome
Fam Cancer, 20 (2), 117-118
DOI 10.1007/s10689-020-00200-6, PubMed 32770425
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
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
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
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
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
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
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
Response to Tolva et al
Genet Med, 22 (4), 813-814
DOI 10.1038/s41436-019-0717-5, PubMed 31801985
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
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
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
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
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
Mitochondrial mutations associated with hearing and balance disorders
Mutat Res, 810, 39-44
DOI 10.1016/j.mrfmmm.2018.03.003, PubMed 29615272
Evaluation of MLH1 variants of unclear significance
Genes Chromosomes Cancer, 57 (7), 350-358
DOI 10.1002/gcc.22536, PubMed 29520894
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
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
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
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
Update on Hereditary Colorectal Cancer
Anticancer Res, 36 (9), 4399-405
DOI 10.21873/anticanres.10983, PubMed 27630275
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
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
BMC Urol, 16, 15
DOI 10.1186/s12894-016-0130-1, PubMed 27013479
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome
Front Oncol, 6, 189
DOI 10.3389/fonc.2016.00189, PubMed 27606285
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
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
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
Familial colorectal cancer type X: genetic profiles and phenotypic features
Mod Pathol, 28 (1), 30-6
DOI 10.1038/modpathol.2014.49, PubMed 24743215
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
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
[Molecular characterization of hereditary colorectal cancer in Peru]
Rev Gastroenterol Peru, 34 (4), 299-303
PubMed 25594752
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
Mutation spectrum in South American Lynch syndrome families
Hered Cancer Clin Pract, 11 (1), 18
DOI 10.1186/1897-4287-11-18, PubMed 24344984
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
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients
Hum Mutat, 33 (12), 1647-55
DOI 10.1002/humu.22153, PubMed 22753075
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
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
Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome
Anticancer Res, 32 (10), 4347-51
PubMed 23060557
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
Advances and applications of oral cancer basic research
Oral Oncol, 47 (9), 783-91
DOI 10.1016/j.oraloncology.2011.07.004, PubMed 21802978
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
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
[Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer]
Rev Gastroenterol Peru, 29 (3), 247-53
PubMed 19898597
Mismatch repair genes in Lynch syndrome: a review
Sao Paulo Med J, 127 (1), 46-51
DOI 10.1590/s1516-31802009000100010, PubMed 19466295
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
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