A5023569263- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- BRCA gene mutations in cancer
- Acute Lymphoblastic Leukemia research
- Immunodeficiency and Autoimmune Disorders
- Diabetes and associated disorders
- Colorectal Cancer Screening and Detection
- Genomics and Rare Diseases
- Retinoids in leukemia and cellular processes
- Metabolism, Diabetes, and Cancer
- Chronic Lymphocytic Leukemia Research
- Hedgehog Signaling Pathway Studies
- Thyroid Cancer Diagnosis and Treatment
- Biotechnology and Related Fields
- Ethics and bioethics in healthcare
- Genomic variations and chromosomal abnormalities
- Colorectal Cancer Treatments and Studies
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Pancreatic function and diabetes
- Neuroendocrine Tumor Research Advances
- Cervical Cancer and HPV Research
- Neurogenetic and Muscular Disorders Research
- Vascular Malformations and Hemangiomas
- Cancer and Skin Lesions
Universidad Ricardo Palma
2017-2025
Nature Inspires Creativity Engineers Lab
2022
Group for the Analysis of Development
2020
Instituto Nacional de Enfermedades Neoplásicas
2013-2018
Universidad Peruana Cayetano Heredia
2013-2014
Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular mismatch repair (MMR) variants spectrum of patients with suspected LS America.Eleven hereditary cancer registries 34 published databases were used identify unrelated families that fulfilled Amsterdam II (AMSII) criteria and/or Bethesda guidelines or suggestive a dominant colorectal (CRC) inheritance syndrome.We performed...
Shawaf‐Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs and slender fingers, sometimes pectus deformation hypermobile joints), ectopia lentis with conjunctival blebs, shallow anterior chamber iridocorneal adhesions. The caused homozygous variants in ASPH . Here, we report on boy the clinical diagnosis of...
Prevalence of maturity-onset diabetes the young (MODY) is estimated between 1 and 2% all cases. In Latin-America little information has been described about frequency disease, perhaps due to limited access genetic studies.We present case a male patient with history two years fatigue, mild hyperglycemia intermittent polyuria, accompanied by recent weight loss. He was diagnosed initially as type 2 diabetes, but in follow-up diabetes. required relatively low doses insulin evaluated...
In order to determine the sociodemographic characteristics of human papillomavirus (HPV) in patients referred National Institute Neoplastic Diseases (INEN) between 2012-2014, detection HPV cervical cells was performed by polymerase chain reaction (PCR). 465 samples, 151 (32.5%) cases were positive. The most common genotypes HPV-16 (23.8%) and HPV-6 (11.9%). presence higher women aged 17-29 years (OR = 2.64, 95% CI 1.14 6.13) single 2.31, 1.37 3.91). high-risk 2.19, 1.04 4.62). conclusion,...
El objetivo fue describir la frecuencia de los subtipos moleculares PML/RARα en pacientes con leucemia promielocítica aguda (LPA) y su distribución según grupo riesgo recaída citomorfología. Se realizó una serie casos que incluyó a cincuenta registrados el Instituto Nacional Enfermedades Neoplásicas (INEN), durante periodo 2010-2012, diagnóstico molecular LPA bcr1, bcr2 bcr3 por reacción cadena polimerasa transcriptasa reversa (RT-PCR). subtipo bcr1 más frecuente (62%). Los intermedio...
<title>Abstract</title> <bold>Background. </bold>Rare diseases (RD) affect up to 8% of the population. They present with variable and nonspecific phenotypes, most these conditions are genetically determined. Few studies have explored knowledge rare in general <bold>Methods.</bold> The research is a cross-sectional analytical study, where modified expert-verified survey was applied. gathered data such as level diseases, age, gender, profession, years professional practice; additionally,...
Pathogenic variants of the <i>GATAD2B</i> gene (1q21.3) are linked to intellectual disability autosomal dominant type 18 (MRD18; MIM 615074), characterized by dysmorphic features, psychomotor and language delay. We present an 11-year-old female patient with typical clinical characteristics MRD18. Chromosomal microarray analysis (CMA) revealed a novel CNV, approximately 200 kb in size showed that <i>INTS3</i> <i>SLC27A3</i> genes completely deleted along...
Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% all populations. This review shows us how discovery variants in our genome, this facilitated know with precision about mechanisms physiopathological, and hence recognize those target points susceptible modifications, through therapeutical strategies different palliative proposals, increase life expectancy, or improve qualities life. These therapies are diverse, using drugs for polygenic diseases, nutritional...
Introduccion: El cancer colorrectal (CCR) es la cuarta neoplasia mas frecuente en el mundo y segun origen de las alteraciones genoma celulas, CCR se clasifica esporadico (~70%) genetico (~30%), este ultimo involucra a los sindromes hereditarios predisposicion al CCR. Objetivo: Describir CCR, poliposicos no poliposicos, identificados consultorio Oncogenetica del INEN. Material metodos: Estudio descriptivo observacional partir registro atenciones INEN durante periodo 2009 2013. Se incluyeron...
El sindrome de Lynch (SL), es un genetico con patron herencia autosomico dominante, que predispone el desarrollo cancer colorrectal y neoplasias extracolonicas, debido a la mutacion germinal en alguno los genes reparadores errores replicacion del ADN (MLH1, MSH2, MSH6 o PMS2). Sindrome Muir-Torre (SMT), una variante fenotipica SL ademas desarrollar tumores glandulas sebaceas queratoacantomas. Presentamos caso dos pacientes SMT, mas neoplasia relacionada al SL, lesiones cutaneas, antecedentes...
The objective was to describe the frequency of molecular subtypes PML/RARα in patients with acute promyelocytic leukemia (APL) and their distribution according risk recurrence cytomorphology. A case series carried out, including fifty registered at National Institute Neoplastic Diseases (INEN) during 2010-2012, diagnosis APL bcr1, bcr2 bcr3 by reverse-transcription polymerase chain reaction (RT-PCR). Bcr1 subtype most frequent (62%). Most an intermediate hypergranular morphology were bcr1...
Introduction: Cancer is the second leading cause of death worldwide, with 70% cancer deaths occurring in low- or middle- income countries. To mitigate mortality this disease, it recommended evaluation multiple high-penetrance genes.
 Methods: We used a multi-gene panel testing to identify germline variants unique case breast patient family history five different neoplasm types. The patient, at age 50 years, was diagnosed high-grade cribriform ductal carcinoma situ her left breast.
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To understand the term genomic heterogeneity in prostate cancer, we must clonal evolution of as well knowing that it is a dynamic and evolutionary phenomenon. Knowing genome cancer not only allows us to have vision over time alterations occur during its different stages, but also learn about mechanisms metastasis. In addition, hereditary component evaluation patients be able identify if are dealing with family at risk.
Down syndrome (DS) or trisomy 21 is a constitutional chromosomal abnormality, which may be mosaic in 1 % to 4 of cases. DS diagnosis difficult because most patients have a normal phenotype and show no significant clinical abnormalities. Patients with have a higher risk developing acute leukemia such as lymphoblastic (ALL). We report the case 19-year old woman ALL.
Background: Breast cancer has well known genetic mutations affecting the DNA-damage repair mechanism and predispose for development of disease. The heterozygous pathogenic variants found in NBN gene been linked to a higher likelihood developing cancer; Methods: clinical description 3 cases review literature; Results: We describe family cluster sisters affected by different types. One them had breast associated 657del5 variant was handled with conserving therapy. Another bilateral third one...