List of works - Mev Domínguez Valentín

A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries

scientific article published on 20 August 2019

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

scientific article published on 5 September 2017

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

scientific article published on 24 July 2020

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Causes for Frequent Pathogenic Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift

article

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 20 July 2020

Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

scientific article

Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x.

scientific article

Familial colorectal cancer type X: genetic profiles and phenotypic features.

scientific article published on 18 April 2014

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome

scientific article

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

article

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

scientific article published on 6 May 2014

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer.

scientific article published on 11 December 2012

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

scientific article

Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients.

scientific article published on 12 July 2016

Identification of genetic variants for clinical management of familial colorectal tumors.

scientific article published on 20 February 2018

Increased infiltration and tolerised antigen-specific CD8+ TEM cells in tumor but not peripheral blood have no impact on survival of HCMV+ glioblastoma patients.

scientific article published on 5 June 2017

Key roles for MYC, KIT and RET signaling in secondary angiosarcomas

scientific article

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

scientific article published on 28 February 2019

Lynch syndrome in South America: past, present and future

scientific article

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

scientific article published on 24 August 2016

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

scientific article published on 04 May 2020

Molecular subtyping of serous ovarian tumors reveals multiple connections to intrinsic breast cancer subtypes

scientific article

Mutation spectrum in South American Lynch syndrome families

scientific article published on 18 December 2013

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

scientific article published on 12 June 2017

Response to Tolva et al

scientific article published on 05 December 2019

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

scientific article published on 06 December 2019

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

scientific article published on 18 July 2020

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article published on 01 December 2020

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry

scientific article published on 15 June 2020

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

scientific article published on 14 October 2019

The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance

scientific article published on 19 July 2020

Two new MLH1 germline mutations in Brazilian lynch syndrome families

article

Update on Hereditary Colorectal Cancer.

scientific article published on September 2016

Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations.

scientific article published on 15 September 2015

[Molecular characterization of hereditary colorectal cancer in Peru].

scientific article

List of works by Mev Domínguez Valentín

A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Causes for Frequent Pathogenic Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x.

Familial colorectal cancer type X: genetic profiles and phenotypic features.

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer.

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients.

Identification of genetic variants for clinical management of familial colorectal tumors.

Increased infiltration and tolerised antigen-specific CD8+ TEM cells in tumor but not peripheral blood have no impact on survival of HCMV+ glioblastoma patients.

Key roles for MYC, KIT and RET signaling in secondary angiosarcomas

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

Lynch syndrome in South America: past, present and future

MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

Molecular subtyping of serous ovarian tumors reveals multiple connections to intrinsic breast cancer subtypes

Mutation spectrum in South American Lynch syndrome families

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Response to Tolva et al

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance

Two new MLH1 germline mutations in Brazilian lynch syndrome families

Update on Hereditary Colorectal Cancer.

Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations.

[Molecular characterization of hereditary colorectal cancer in Peru].