PhD. in Science - Biology
Bachelor of Biology (Genetics)
RESEARCH INTERESTS
Molecular Biology of Cancer
Cancer Genetics
6
Scopus Publications
119
Scholar Citations
5
Scholar h-index
3
Scholar i10-index
Scopus Publications
Oral manifestations in patients with coronavirus disease 2019 (COVID-19) identified using text mining: an observational study Sandra Guauque-Olarte, Laura Cifuentes-C, Cristian Fong Scientific Reports, 2023 Text mining enables search, extraction, categorisation and information visualisation. This study aimed to identify oral manifestations in patients with COVID-19 using text mining to facilitate extracting relevant clinical information from a large set of publications. A list of publications from the open-access COVID-19 Open Research Dataset was downloaded using keywords related to oral health and dentistry. A total of 694,366 documents were retrieved. Filtering the articles using text mining yielded 1,554 oral health/dentistry papers. The list of articles was classified into five topics after applying a Latent Dirichlet Allocation (LDA) model. This classification was compared to the author's classification which yielded 17 categories. After a full-text review of articles in the category “Oral manifestations in patients with COVID-19”, eight papers were selected to extract data. The most frequent oral manifestations were xerostomia (n = 405, 17.8%) and mouth pain or swelling (n = 289, 12.7%). These oral manifestations in patients with COVID-19 must be considered with other symptoms to diminish the risk of dentist-patient infection.
Presence of periodontal pathogenic bacteria in blood of patients with coronary artery disease Zuray Corredor, Andrés Suarez-Molina, Cristian Fong, Laura Cifuentes-C, Sandra Guauque-Olarte Scientific Reports, 2022 It has been hypothesised that oral bacteria can migrate, through the blood, from the mouth to the arterial plaques, thus exacerbating atherosclerosis. This study compared bacteria present in the peripheral blood of individuals with and without coronary artery disease (CAD). RNA sequences obtained from blood were downloaded from GEO (GSE58150). Eight patients with coronary artery calcification (CAC) scoring > 500 and eight healthy individuals were analysed. After conducting quality control, the sequences were aligned to the hg38 reference genome using Hisat2. Bacterial taxa were analysed by inputting the unmapped sequences into Kraken. Ecological indices were calculated using Vegan. The package DESeq2 was used to compare the counts of bacteria per standard rank between groups. A total of 51 species were found only in patients with CAD and 41 were exclusively present in healthy individuals. The counts of one phylum, one class, three orders, two families and one genus were significantly different between the analysed groups (p < 0.00032, FDR < 10%), including the orders Cardiobacteriales, Corynebacteriales and Fusobacteriales. Twenty-three bacterial species belonging to the subgingival plaque bacterial complexes were also identified in the blood of individuals from both the groups; Fusobacterium nucleatum was significantly less frequent in patients with CAD (p = 0.0012, FDR = 4.8%). Furthermore, the frequency of another 11 bacteria differed significantly among patients with CAD than that among healthy individuals (p < 0.0030, FDR < 10%). These bacteria have not been previously reported in patients with atherosclerosis and periodontitis. The presence of members of the subgingival plaque bacterial complexes in the blood of patients with CAC supports the hypothesis that the periodontopathogens can be disseminated through the blood flow to other body parts where they may enhance inflammatory processes that can lead to the development or exacerbation of atherosclerosis.
Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities Laura Cifuentes-C, Carlos Humberto Martínez, Herney Andrés García-Perdomo International Braz J Urol, 2020 Renal Cell Cancer (RCC) is a heterogeneous disease that is characterized by distinct pathological phenotypes due to the differences in genetic alterations and signaling pathways affected (1). Bilateral renal tumors are often thought to be familial, however, they are only found in 14% of RCC cases and 4% of von Hippel-Lindau disease (VHL) cases. Therefore, most people with bilateral kidney tumors might have sporadic tumors caused by somatic mutations (2). These figures suggest that a deep genomic study is fundamental for understanding the cause of this disease. The objective of this report was to describe a clinical case of a patient with bilateral kidney tumors of different subtypes, and how the genetic abnormalities found in this patient relate to the clinical phenotype.
Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia Carolina Cortés, Ana Lucía Rivera, David Trochez, Melissa Solarte, Daniela Gómez, et al. Hereditary Cancer in Clinical Practice, 2019 PurposeThe main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of studied families. In Colombia mutations in these genes have been mainly studied on patients from Andean region. Bogotá and Medellin presented its own battery of mutations. This study aims to identify mutations in BRCA1–2 genes in women with familial breast cancer from different regions of Colombia.MethodsOne hundred four families with a history of breast cancer were sampled in different regions of Colombia, and the BRCA1 gene and exon 11 of the BRCA2 gene were sequenced. To predict the possible effects of sequence alterations found in protein function, different bioinformatics tools were used.ResultsA total of 33 variants were found; 18 in BRCA1 and 15 in BRCA2, of which 15 are unique variants of Colombia. In silico analysis established that alterations p.Thr790Ala, p.Arg959Lys and p.Glu1345Lys in the BRCA1 gene and variants p.Leu771Phe, p.Asn818Lys, p.Val859Ser*22 and p.Lys1032Ile in the BRCA2 gene are considered likely pathogenic. Both the mutations as the variants of unknown clinical significance, in their great majority, presented a specific region distribution and they were different from those reported in previous studies.ConclusionsIn this study we report the BRCA1 and BRCA2 spectrum of mutations and their distribution by regions in Colombia. Our results may help to design a diagnostic test including recurrent mutations for screening high risk to breast cancer families in Colombia.
Brca1 and brca2 mutations in a sample of breast and ovarian cancer families from the colombian pacific Laura Cifuentes-C, Ana Lucia Rivera-Herrera, Guillermo Barreto Colombia Medica, 2019 Introduction: Breast cancer is the most common neoplasia of women from all over the world especially women from Colombia. 5%10% of all cases are caused by hereditary factors, 25% of those cases have mutations in the BRCA1/BRCA2 genes. Objective: The purpose of this study was to identify the mutations associated with the risk of familial breast and/or ovarian cancer in a population of Colombian pacific. Methods: 58 high-risk breast and/or ovarian cancer families and 20 controls were screened for germline mutations in BRCA1 and BRCA2, by Single Strand Conformation Polymorphism (SSCP) and sequencing. Results: Four families (6.9%) were found to carry BRCA1 mutations and eight families (13.8%) had mutations in BRCA2. In BRCA1, we found three Variants of Uncertain Significance (VUS), of which we concluded, using in silico tools, that c.8112C>G and c.3119G>A (p.Ser1040Asn) are probably deleterious, and c.3083G>A (p.Arg1028His) is probably neutral. In BRCA2, we found three variants of uncertain significance: two were previously described and one novel mutation. Using in silico analysis, we concluded that c.865A>G (p.Asn289Asp) and c.6427T>C (p.Ser2143Pro) are probably deleterious and c.125A>G (p.Tyr42Cys) is probably neutral. Only one of them has previously been reported in Colombia. We also identified 13 polymorphisms (4 in BRCA1 and 9 in BRCA2), two of them are associated with a moderate increase in breast cancer risk (BRCA2 c.1114A>C and c.875566T>C). Conclusion: According to our results, the Colombian pacific population presents diverse mutational spectrum for BRCA genes that differs from the findings in other regions in the country.
RECENT SCHOLAR PUBLICATIONS
Alteraciones moleculares y microorganismos asociados en el desarrollo de la estenosis aórtica por calcificación IY López Ardila, S Guauque Olarte, F Rondón González, ... Universidad Industrial de Santander , 2024 2024
Variants in IL-6 gene and their association with External Root Resorption in orthodontic treatment L Cifuentes, S Guauque-Olarte, A Salas, O Jojoa, L Perdomo, C Fong EUROPEAN JOURNAL OF HUMAN GENETICS 32, 322-322 , 2024 2024
Association of polymorphisms in IL-6 and TNF-a genes with the severity of sickle cell anemia in Colombian patients C Fong, E Portilla, L Cifuentes EUROPEAN JOURNAL OF HUMAN GENETICS 32, 317-318 , 2024 2024
Análisis integrado de datos genómicos para la identificación de variantes en el gen AhR asociadas con cáncer en población latinoamericana NAT Pelayo, SMG Olarte, CIV Castellanos, LFC Cardona Iatreia 36 (2-S) , 2023 2023
Oral manifestations in patients with coronavirus disease 2019 (COVID-19) identified using text mining: an observational study S Guauque-Olarte, L Cifuentes-C, C Fong Scientific Reports 13 (1), 17770 , 2023 2023 Citations: 3
Oral manifestations in patients with coronavirus disease 2019 (COVID-19) identified using text mining: an observational study GO Sandra, L Cifuentes, L Cifuentes Cardona, C Fong, C Fong Reales Scientific Reports 13, 17770 , 2023 2023
Identification of new genetics variants in interleukin 6 in admixed populations from south-western Colombia C Fong, L Cifuentes EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 531-532 , 2022 2022
Presence of periodontal pathogenic bacteria in blood of patients with coronary artery disease Z Corredor, A Suarez-Molina, C Fong, L Cifuentes-C, S Guauque-Olarte Scientific reports 12 (1), 1241 , 2022 2022 Citations: 49
Members of subgingival plaque bacterial complexes are present in blood of patients with coronary artery disease A Suarez-Molina, C Fong, L Cifuentes-C, S Guauque-Olarte EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 264-265 , 2020 2020
Caracterización de los diagnósticos histopatológicos de muestras de tejido de cabeza y cuello (sistema estomatognático y laringe) en un periodo de 5 años en Pasto, Colombia HM Chagüezá Morán, BF Usamag Fuertes Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud … , 2020 2020
Sequencing technology status of BRCA1/ 2 testing in Latin American Countries AR Solano, EI Palmero, L Delgado, DM Carraro, R Ortíz-López, ... npj genomic medicine 5 (1), 22 , 2020 2020 Citations: 5
Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities L Cifuentes-C, CH Martínez, HA García-Perdomo International braz j urol 46 (2), 287-293 , 2020 2020 Citations: 5
BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific L Cifuentes-C, AL Rivera-Herrera, G Barreto Colombia Medica 50 (3), 163-175 , 2019 2019 Citations: 16
Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia C Cortés, AL Rivera, D Trochez, M Solarte, D Gómez, L Cifuentes, ... Hereditary cancer in clinical practice 17 (1), 20 , 2019 2019 Citations: 22
Evaluación de factores biológicos y ortodónticos sobre la reabsorción radicular externa inducida por tratamiento de ortodoncia LL Dominguez Burbano, C Lagos Chamorro Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud … , 2019 2019
Mutaciones en los genes BRCA1 y BRCA2 en una muestra de familias con cáncer de mama y/u ovario del pacífico colombiano C Cifuentes, AL Rivera-Herrera, G Barreto Medes, medicina en español 50 (3), 163-175 , 2019 2019 Citations: 7
Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study L Cifuentes-C F1000 Research , 2018 2018
Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: A case-control study AL Rivera-Herrera, L Cifuentes-C, JA Gil-Vera, G Barreto F1000Research 7 (1032), 1032 , 2018 2018 Citations: 5
Identificación de variantes genéticas asociadas con sus-ceptibilidad familiar cáncer de mama y/u ovario en pacientes del Suroccidente colombiano L Cifuentes, ALR Herrera, G Barreto Instituto Nacional de Cancerología , 2017 2017
presence in the Latin American population [version 1; referees: 3 S Guauque-Olarte, AL Rivera-Herrera, L Cifuentes-C 2016
MOST CITED SCHOLAR PUBLICATIONS
Presence of periodontal pathogenic bacteria in blood of patients with coronary artery disease Z Corredor, A Suarez-Molina, C Fong, L Cifuentes-C, S Guauque-Olarte Scientific reports 12 (1), 1241 , 2022 2022 Citations: 49
Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia C Cortés, AL Rivera, D Trochez, M Solarte, D Gómez, L Cifuentes, ... Hereditary cancer in clinical practice 17 (1), 20 , 2019 2019 Citations: 22
BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific L Cifuentes-C, AL Rivera-Herrera, G Barreto Colombia Medica 50 (3), 163-175 , 2019 2019 Citations: 16
Mutaciones en los genes BRCA1 y BRCA2 en una muestra de familias con cáncer de mama y/u ovario del pacífico colombiano C Cifuentes, AL Rivera-Herrera, G Barreto Medes, medicina en español 50 (3), 163-175 , 2019 2019 Citations: 7
Sequencing technology status of BRCA1/ 2 testing in Latin American Countries AR Solano, EI Palmero, L Delgado, DM Carraro, R Ortíz-López, ... npj genomic medicine 5 (1), 22 , 2020 2020 Citations: 5
Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities L Cifuentes-C, CH Martínez, HA García-Perdomo International braz j urol 46 (2), 287-293 , 2020 2020 Citations: 5
Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: A case-control study AL Rivera-Herrera, L Cifuentes-C, JA Gil-Vera, G Barreto F1000Research 7 (1032), 1032 , 2018 2018 Citations: 5
Oral manifestations in patients with coronavirus disease 2019 (COVID-19) identified using text mining: an observational study S Guauque-Olarte, L Cifuentes-C, C Fong Scientific Reports 13 (1), 17770 , 2023 2023 Citations: 3
Mutations of the CHEK2 gene in patients with cancer and their presence in the Latin American population S Guauque-Olarte, AL Rivera-Herrera, L Cifuentes-C F1000Research 5, 2791 , 2016 2016 Citations: 3
Evaluación de la diversidad genética mediante el análisis de mtDNA en poblaciones aisladas del centro y suroccidente colombiano F Rondón-González, L Cifuentes, H Cárdenas, G Barreto Salud Uninorte 18, 74 , 2004 2004 Citations: 2
Alteraciones moleculares y microorganismos asociados en el desarrollo de la estenosis aórtica por calcificación IY López Ardila, S Guauque Olarte, F Rondón González, ... Universidad Industrial de Santander , 2024 2024
Variants in IL-6 gene and their association with External Root Resorption in orthodontic treatment L Cifuentes, S Guauque-Olarte, A Salas, O Jojoa, L Perdomo, C Fong EUROPEAN JOURNAL OF HUMAN GENETICS 32, 322-322 , 2024 2024
Association of polymorphisms in IL-6 and TNF-a genes with the severity of sickle cell anemia in Colombian patients C Fong, E Portilla, L Cifuentes EUROPEAN JOURNAL OF HUMAN GENETICS 32, 317-318 , 2024 2024
Análisis integrado de datos genómicos para la identificación de variantes en el gen AhR asociadas con cáncer en población latinoamericana NAT Pelayo, SMG Olarte, CIV Castellanos, LFC Cardona Iatreia 36 (2-S) , 2023 2023
Oral manifestations in patients with coronavirus disease 2019 (COVID-19) identified using text mining: an observational study GO Sandra, L Cifuentes, L Cifuentes Cardona, C Fong, C Fong Reales Scientific Reports 13, 17770 , 2023 2023
Identification of new genetics variants in interleukin 6 in admixed populations from south-western Colombia C Fong, L Cifuentes EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 531-532 , 2022 2022
Members of subgingival plaque bacterial complexes are present in blood of patients with coronary artery disease A Suarez-Molina, C Fong, L Cifuentes-C, S Guauque-Olarte EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 264-265 , 2020 2020
Caracterización de los diagnósticos histopatológicos de muestras de tejido de cabeza y cuello (sistema estomatognático y laringe) en un periodo de 5 años en Pasto, Colombia HM Chagüezá Morán, BF Usamag Fuertes Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud … , 2020 2020
Evaluación de factores biológicos y ortodónticos sobre la reabsorción radicular externa inducida por tratamiento de ortodoncia LL Dominguez Burbano, C Lagos Chamorro Universidad Cooperativa de Colombia, Facultad de Ciencias de la Salud … , 2019 2019
