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PanCanRisk

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Personalized bioinformatics for global cancer susceptibility identification and...

Personalized bioinformatics for global cancer susceptibility identification and clinical management Cancer sequencing studies have extensively investigated the landscape of somatic mutations that drive tumor development, however the importance of germline variation for cancer susceptibility has been neglected. We hypothesize tha... ver más

30/06/2018

FUNDACION PUBLICA...

3M€

Presupuesto del proyecto: 3M€

Líder del proyecto

FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICA No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5 | 173K€

Fecha límite participación Sin fecha límite de participación.

Ver 6 Participantes

Financiación concedida El organismo H2020 notifico la concesión del proyecto el día 2018-06-30

PHC-32-2014: Advancing bioinformatics to meet bi... Scope:Specific challenge:Recent technological advances in molecular biology, biomedical sciences and...

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Este proyecto no cuenta con búsquedas de partenariado abiertas en este momento.

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6 Participantes

FUNDACION PUBLICA GALEGA DE...

558.35K€ | Lider

CONSULTORIO DEXEUS

256.34K€ | Participante

EMBL

508.08K€ | Participante

INSTITUT CURIE FONDATION

328.71K€ | Participante

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Duración del proyecto: 38 meses Fecha Inicio: 2015-04-07
Fecha Fin: 2018-06-30

Líder del proyecto

FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICA No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5 | 173K€

Presupuesto del proyecto 3M€

Fecha límite de participación Sin fecha límite de participación.

Descripción del proyecto Cancer sequencing studies have extensively investigated the landscape of somatic mutations that drive tumor development, however the importance of germline variation for cancer susceptibility has been neglected. We hypothesize that for cancer types affecting a large proportion of the population, a shared set of genes with variants of different levels of penetrance leads to the clinical phenotype. While rare germline variants are not interrogated by array-based genome-wide association studies (GWAS), these can be effectively studied by whole-genome or whole-exome sequencing. Here, we propose in-depth pan-cancer analyses, which will be implemented as part of the International Cancer Genome Consortium (ICGC) initiative, as a model to develop and apply the necessary bioinformatics tools and pipelines to fully exploit the cancer-genome datasets, and to harness the diagnostic power of genome sequencing in day-to-day clinical practice. Our proposal addresses the full chain of computational and statistical tools that are needed for clinically relevant diagnosis and intervention, including discovery in large cohorts, validation of putative causal sites in model systems and development of targeted cancer-risk panels. The consortium combines complementary expertise to extend the computational discovery of novel variants that influence cancer susceptibility to intergenic and regulatory variants; to integrate genomic, molecular phenotype, biomarker and clinical data; and to develop novel statistical methods for variant association and eQTL analysis. The project will deal with essential aspects on how data are collected, stored, organized, integrated, analyzed and exploited in cancer genetic clinics. We aim to provide a concerted, cross-disciplinary framework for a better understanding, integration and use of cancer clinical data in the evaluation of the multitude of genetic variants and mutations involved in cancer susceptibility, for the direct benefit of cancer patients.

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