Precision medicine in predicting the risk of colorectal cancer in patients with genetic diagnosis of Lynch syndrome (Q3136693): Difference between revisions
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Médecine de précision pour prédire le risque de cancer colorectal chez les patients ayant un diagnostic génétique du syndrome de Lynch | |||
Revision as of 09:21, 2 December 2021
Project Q3136693 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Precision medicine in predicting the risk of colorectal cancer in patients with genetic diagnosis of Lynch syndrome |
Project Q3136693 in Spain |
Statements
51,000.0 Euro
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102,000.0 Euro
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50.0 percent
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1 January 2018
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31 March 2021
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FUNDACION PARA EL FOMENTO DE LA INV. SANITARIA Y BIOMEDICA DE LA COMUNIDAD VALENCIANA (FISABIO)
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38°15'55.19"N, 0°41'55.82"W
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03065
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Objetivos: O1.- Identificar y caracterizar factores genéticos modificadores de la penetrancia. O2.- Analizar la microbiota intestinal y su asociación con el desarrollo de pólipos y CCR en individuos sanos con diagnóstico genético de síndrome de Lynch (SL). O3.- Analizar la posible asociación de los modificadores genéticos de la penetrancia identificados con la microbiota intestinal en individuos con diagnóstico genético de SL. Metodología: O1- Se estudiarán los exomas de un total de 70 individuos con diagnóstico genético de SL y fenotipos extremos, como fase de identificación de posibles factores genéticos modificadores de la penetrancia (serie de test). Los resultados serán validados en una segunda serie independiente con 100 casos analizando exclusivamente los factores genéticos identificados en la primera fase. O2.- Se realizarán estudios de metagenómica 16S para el análisis de la microbiota de 580 muestras de heces de 116 individuos sanos y con diagnóstico genético de SL. Se analizará la estructura de la comunidad bacteriana (composición, riqueza y diversidad), el análisis de componentes principales, variabilidad temporal intraindividual y variabilidad entre grupos (sanos e individuos con eventos incidentales asociados con el SL). O3.- Análisis combinado de los resultados de factores genéticos y de la microbiota y su asociación con los grupos de individuos a riesgo afectos y no afectos. (Spanish)
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Objectives: O1.- Identify and characterise genetic factors modifying penetrance. O2.- Analyse the intestinal microbiota and its association with the development of polyps and CRC in healthy individuals with genetic diagnosis of Lynch syndrome (SL). O3.- Analyse the possible association of genetic modifiers of penetrance identified with the intestinal microbiota in individuals with a genetic diagnosis of SL. Methodology: O1- Exomes of a total of 70 individuals with genetic diagnosis of SL and extreme phenotypes will be studied as a phase of identification of possible genetic factors modifying penetrance (test series). The results will be validated in a second independent series with 100 cases exclusively analysing the genetic factors identified in the first phase. O2.- 16S metagenomic studies will be performed to analyse the microbiota of 580 samples of faeces from 116 healthy individuals with a genetic diagnosis of SL. The structure of the bacterial community (composition, wealth and diversity), analysis of main components, intraindividual temporal variability and variability between groups (healthy and individuals with incidental events associated with SL) will be analysed. O3.- Combined analysis of the results of genetic factors and microbiota and their association with groups of individuals at risk affections and non-affects. (English)
12 October 2021
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Elche/Elx
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Identifiers
PI17_01082
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