The SN location was marked on the patient skin with permanent ink. En Colombia como en el resto del mundo, el cáncer se ha convertido en una preocupación habitual, muchas personas han tenido alguna persona cercana con diagnóstico de alguna de estas enfermedades.
[9. BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
En este trabajo se realizó una revisión sistemática, siguiendo los parámetros del protocolo PRISMA, para estimar la prevalencia de mutaciones en los genes BRCA 1/2 en pacientes con CGM y CO, la incidencia de la historia familiar y la prevalencia observada en casos esporádicos en este tipo de cáncer. 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.
Countries with high prevalence of BRCA pathogenic variants may benefit from more aggressive testing strategies, while testing of recurrent variant panels might present a cost-effective solution for improving genetic testing in some, but not all, countries. Introduction Genetic testing was successfully completed for 244 of the 280 cases (87%). The IM chain drainage was of 6% in the UO, in the LO of 5%, in the UI of 12 %, in the LI of 20 % and none in subareolar. The contribution of cancer-related mutations to the incidence of breast cancer in Argentina has not yet been explored. Este amplio rango de la frecuencia se debe al origen de la población estudiada, el número de individuos analizados y la metodología de genotipificación utilizada. El uso de los instrumentos EORTC QLQ C30 y EQ5D 3L fue previo al permiso otorgado, el análisis de la información se llevó a cabo en el paquete estadístico Stata 14. In BRCA1, we found three Variants of Uncertain Significance (VUS), of which we concluded, using in silico tools, that c.81-12C>G and c.3119G>A (p.Ser1040Asn) are probably deleterious, and c.3083G>A (p.Arg1028His) is probably neutral. Introduction: Breast cancer is a common pathology and treatments like chemotherapy affect women's psyche and life experiences. The online version of this article (doi:10.1186/s40659-017-0139-2) contains supplementary material, which is available to authorized users. Five founder mutations have been identified in two previous studies of breast cancer patients in the Bogota region [1,2]. El cáncer de mama es uno de los que tiene mayor índice de mortalidad entre las mujeres y la detección temprana incrementa las posibilidades de curación, por lo que hacerlo a tiempo ha demostrado ser uno de los mejores tratamientos para esta grave enfermedad. 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. In order to implement clinical genetic strategies adapted to each population’s needs and intrinsic genetic characteristic, this review aims to present the current status of knowledge about the spectrum of BRCA pathogenic variants in Latin American populations. En la actualidad es posible ofrecer la identificación de estas mutacionescon base en el DNA y en una historia familiar completa, pero la utilidad de la predicciónde las pruebas genéticas requiere de una adecuada asesoría para la interpretación de sus resultados. Women with triple-negative breast cancer in Mexico should be screened for mutations in BRCA1. Fifteen mutations were identified (two in BRCA2 and thirteen in BRCA1) representing 15.6% of the total (95% CI: 7.8% to 21.3%).
El estudio histopatológico diferido se realizó mediante técnicas de hematoxilina-eosina, inmunohistoquimia (CAM 19-2) y PCR. patients (10.7%) studied by "Profile Colombia" showed mutations in BRCA1 or BRCA2, and 41/256 patients (16%) showed mutations by complete BRCA1-BRCA2 sequencing. Request the article directly from the authors on ResearchGate. Volume 20, Issue 2, April–June 2016, Pages 52-60. Families with BRCA2 mutations were also reported to have cases of gastric and prostate cancers; however, the full range of cancers associated with BRCA1 and BRCA2 mutations in Costa Rica has not yet been established. Breast cancer is the most common neoplasia of women from all over the world especially women from Colombia. "Profile Colombia" is a useful screening test to establish both founder and new mutations (detection rate of 10.7%) in cases with family history of breast cancer. Results: The following categories were developed as an explanation of the phenomenon: (1) Change experiences in corporeality and emotional reactions, (2) different meanings of treatment, new beliefs, and new goals in life, (3) experiences with family and community, and (4) experiences with other patients and medical staff. Gutiérrez Espeleta GA, Llacuachaqui M, García-Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod SA. Obtener una versión en español colombiano de dos instrumentos que miden la calidad de vida relacionada con la salud: EORTC QLQ C-30 (instrumento general) y el EORTC QLQ BR23 (instrumento específico). En Colombia, según las cifras entregadas el 12 de septiembre de 2018 por la Agencia Internacional para la Investigación del Cáncer (IARC), se presentan 13.380 casos nuevos de cáncer de mama al año y 3.702 mujeres mueren por esta causa.
You can request the full-text of this article directly from the authors on ResearchGate. Thus, the prevalence rate of recurrent mutations in this study is 0.8%, which is lower than the 4.2% rate (32/766) found in the unselected breast cancer cases from Bogota.
Para responder estas preguntas se realizó una revisión de la literatura pertinente en las bases de datos Medline vía PubMed, ScienceDirect y SciELO. Se estudiaron 376 pacientes con cáncer de mama; edad media: 57 años (rango 29-88). BRCA1 185delAG represented seven of the eleven mutations in BRCA1. En ScienceDirect y SciELO se encontraron 7 artículos. To evaluate the influence of tumour quadrant localization on the sentinel node (SN) detection and the visualisation of internal mammary chain (IM) drainage by radioisotopic techniques. In BRCA2, we found three variants of uncertain significance: two were previously described and one novel mutation. ... DNA samples from study subjects were also tested for a panel of recurrent mutations that is estimated to account for up to 80% of Hispanic BRCA mutations [23,25]. Our results may help to design a diagnostic test including recurrent mutations for screening high risk to breast cancer families in Colombia. A total of 167 unique pathogenic variants have been reported in the existing literature. Access scientific knowledge from anywhere. The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. ResearchGate has not been able to resolve any references for this publication.
These two studies have described five founder mutations in the Colombian population [21. The scintigraphy and surgical detection was in the upper outer quadrant of 90 % and 93 % respectively; in the lower outer quadrant of 91 % and 95 %, in the upper inner quadrant of 93 % and 95 %, in the lower inner quadrant 87 % and 95 % and in the subareolar area in 94 % and 83 %.
En Colombia, en dos estudios reportados por Torres y colaboradores en la población bogotana, encuentra cinco mutaciones fundadoras para los BRCA (38, ... A partir de los datos de estos estudios se puede decir que las frecuencias observadas en este tipo de cáncer de origen esporádico tienden a ser mucho menores a las observadas en los casos de origen familiar. Los estadios más costosos para el cáncer fueron el metastásico con un costo total de $144.400.865, seguido del cáncer de mama regional que alcanzó un costo total de $65.603.537. ... DNA samples from study subjects were also tested for a panel of recurrent mutations that is estimated to account for up to 80% of Hispanic BRCA mutations [23,25]. Costos directos de la atención del cáncer de mama en Colombia Direct costs of breast cancer care in Colombia. Four different mutations were identified in five patients (four in BRCA2 and one in BRCA1) representing 4.5% of the total. Electronic supplementary material Of the 30 individuals carrying the pathogenic variant, six were men, 24 were women, and 13 of these were under 30.
El Fondo Colombiano de Enfermedades de Alto Costo (CAC) informó que, desde enero de 2019 a enero del 2020, se “han registrado 77.727 casos de mujeres con cáncer de mama atendidas en el … Among the 244 cases, three deleterious mutations were identified (two in BRCA1 and one in BRCA2) representing 1.2% of the total.
We enrolled 100 unselected women with ovarian cancer from the Bogota region, and from northern and southern central regions of Colombia.
Objective 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. ... Data on the contribution of germline BRCA1/BRCA2 mutations to breast cancer in the Colombian population is scarce; Torres et al. Methodology: This study was done with a qualitative-interpretive method, using the analytical tools of grounded theory and adopting as a methodological framework the ecological model applied to psychooncology as proposed by Bronfrenbrenner. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques and all mutations were confirmed by direct sequencing.
Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35. To identify the presence of mutations in the Colombian population and evaluate two testing strategies. Conclusions RESULTADOS: Estosexplican el 90 % y el 50 % de los cánceres hereditarios de ovario y mama, respectivamente. Methods: This study aims to identify mutations in BRCA1-2 genes in women with familial breast cancer from different regions of Colombia. The average age of breast cancer in the mutation-positive cases was 44 years. Se realizó marcaje cutáneo del GC para facilitar su localización quirúrgica. Results Reunir evidencias de la variación en la frecuencia de las mutaciones de BRCA1 y BRCA2 y la historia familiar en pacientes con cáncer de glándula mamaria (CGM) y cáncer de ovario (CO) de diferentes orígenes geográficos. Entre el 5 al 10 % de los cánceres de ovario y mama son atribuidos a una transmisiónautosómica dominante de mutaciones heredadas en los genes BRCA 1 y BRCA 2. de correlación de Pearson entre el EQ5D 3L (medida de utilidad y VAS), y el EORTC QLQ C30 (estado general de salud, escala funcional y escala sintomática), este ejercicio se llevó a cabo para toda la muestra. DNA quality was adequate for BRCA testing for 96 women.
Breast cancer (BC) is the most common malignancy among women worldwide. All patients received 37-74 MBq of 99mTc-albumin nanocolloid in 2 ml by peritumoral injection. Within Latin America and the Caribbean, 8.2 % of the BRCA variants reported were present in more than one country.
In this study we report the BRCA1 and BRCA2 spectrum of mutations and their distribution by regions in Colombia. Conclusions: This study shows that women undergoing chemotherapy experience changes in their psyche and in their personal relationships.
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