Karin Álvarez
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View article: Challenges in diagnosing and interdisciplinary treatment of a patient with Gardner syndrome: a case report
Challenges in diagnosing and interdisciplinary treatment of a patient with Gardner syndrome: a case report Open
Background Gardner syndrome is a phenotypic variant of familial adenomatous polyposis (FAP) with autosomal dominant inheritance, characterized by the diagnostic triad of multiple gastrointestinal polyps, skin and soft tissue tumors, and os…
View article: Characterization of Screening Strategies for Lynch Syndrome in Latin America
Characterization of Screening Strategies for Lynch Syndrome in Latin America Open
UTS is widely implemented in Latin America; however, the low detection rate of LS demonstrated in this study raises concerns about the routine use of germline genetic testing in our region. Our study provides real-world outcomes that highl…
View article: Innovaciones en la reconstrucción del ligamento cruzado anterior en atletas
Innovaciones en la reconstrucción del ligamento cruzado anterior en atletas Open
Introducción: las lesiones deportivas, y en particular las del ligamento cruzado anterior (LCA), se erigen como obstáculos significativos que amenazan la carrera y el rendimiento de los atletas. Debido a ello, la comunidad científica y méd…
View article: Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents Open
Recently, biallelic germline variants of the DNA glycosylase genes MUTYH and NTHL1 were linked to polyposis susceptibility. Significant fractions remain without a molecular explanation, warranting searches for underlying causes. We used ex…
View article: No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study Open
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary …
View article: No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study Open
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary …
View article: Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study Open
View article: LBSL
LBSL Open
DARS2 variants are associated with highly heterogeneous phenotypes. New MRI presentations are profound cerebral hypoplasia/atrophy and white matter abnormalities without long tract involvement. Our findings have implications for dia…
View article: Immune System, Microbiota, and Microbial Metabolites: The Unresolved Triad in Colorectal Cancer Microenvironment
Immune System, Microbiota, and Microbial Metabolites: The Unresolved Triad in Colorectal Cancer Microenvironment Open
Colorectal cancer (CRC) is one of the most common cancers worldwide. As with other cancers, CRC is a multifactorial disease due to the combined effect of genetic and environmental factors. Most cases are sporadic, but a small proportion is…
View article: Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report Open
View article: Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer
Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer Open
Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical,…
View article: Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report Open
View article: Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database Open
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
View article: Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry
Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry Open
Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several extracolonic cancers. In our effort to characterize LS families from Latin America, this study aimed to describe the spectrum of neoplasms and cancer r…
View article: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database Open
View article: Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile Open
Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely acc…
View article: From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America
From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America Open
Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, …
View article: Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile Open
Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely acc…
View article: The relationship between chemokines CCL2, CCL3, and CCL4 with the tumor microenvironment and tumor-associated macrophage markers in colorectal cancer
The relationship between chemokines CCL2, CCL3, and CCL4 with the tumor microenvironment and tumor-associated macrophage markers in colorectal cancer Open
A complex network of chemokines can influence cancer progression with the recruitment and activation of hematopoietic cells, including macrophages to the supporting tumor stroma promoting carcinogenesis and metastasis. The aim of this stud…
View article: From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America Open
Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, …
View article: Evaluation of <i>MLH1</i> variants of unclear significance
Evaluation of <i>MLH1</i> variants of unclear significance Open
Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not. Nine such MLH1 variants have been identified in South Ameri…
View article: A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America Open
The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of L…
View article: EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features
EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features Open
Colorectal cancer is a multistep process affecting several signaling pathways including EGFR (epidermal growth factor receptor), a therapeutic target for metastatic disease. Our aim was to characterize the mutational and expression profile…
View article: CARACTERIZACIÓN DEL INFILTRADO LINFOCITARIO (CD3, CD4, CD8, CD45RO Y FOXP3) E INESTABILIDAD MICRO-SATELITAL EN PACIENTES CON CÁNCER COLORRECTAL
CARACTERIZACIÓN DEL INFILTRADO LINFOCITARIO (CD3, CD4, CD8, CD45RO Y FOXP3) E INESTABILIDAD MICRO-SATELITAL EN PACIENTES CON CÁNCER COLORRECTAL Open
"Resumen Introducción: En el cáncer colorrectal (CCR), se sugiere que un mejor pronóstico podría asociarse a una respuesta inmune antitumoral (del huésped) y/o a la presencia de una alta inestabilidad microsatelital (MSI). Objetivo: Determ…