The Portal Interprets Cancer Genomic Variants

The MTBP uses a comprehensive set of expert curated databases collecting clinical and preclinical knowledge associated to genomic events (such as their role in disease pathogenicity or anti-cancer drugs response). Assertions supported by lower quality data (e.g. not well-powered studies) and/or without consensus are not used to classify the variants (but provided as additional descriptives).

The MTBP uses public knowledgebases developed by international efforts that (a) formalize the variant information by using pre-defined criteria; (b) are based on published biomedical literature (including conference communications for most recent reports); (c) are committed to periodical updates; and (d) are open for the use and review of the community (see individual resources for licensing details).

Some bona fide assumptions are used to estimate the relevance of particular events without reported effects. These assumptions are based on stringent criteria, as the recommendations to consider mutations of null consequence type as loss-of-function events developed by the study of Mendelian gene variants.

Computational estimations are used as the lowest level of evidence to estimate the variants effect if no other information is available. Only results supported by robust statistical methods are employed according to our own benchmarking.

The portal is developed under the umbrella of Cancer Core Europe, a network of seven leading European cancer centers sharing knowledge, data and technology to implement new precision oncology strategies.

The public website of the MTBP provides a lightweight version of the analytical pipeline used by CCE initiatives, which supports a general interpretation of gene variants for research purposes.