Mutational patterns of somatic mutations for a functional classification of human cancers

MARÍA DE LA SOLEDAD MENDEZ OCHOA ; DIEGO JAVIER ZEA; CRISTINA MARINO BUSLJE

Bahía Blanca

Congreso; Mutational patterns of somatic mutations for a functional classification of human cancers; 2015

Asociacion Argentina de Bioinformática y Biología Computacional

Extensive tumor genome sequencing has provided sufficient amount of data of somatic mutations. Identifying driver mutations and their functional consequences is critical to understand cancer. Previous analysis have suggested that as few as three driver mutations are sufficient forcancer initiation [1]. Past studies have focused on the whole gene or protein [2] and, more recently, on protein domains [3,4].However mutations in different positions of the protein may have very different functional consequences, so a study that considers mutational positions couldbe beneficial for elucidating the functional effect of the mutation.As a given gene may have different roles in different cancer types and also different pattern of mutation across cancers. We hypothesize that mutational patterns would cluster tumors from different provenances or disaggregate tumors with the same origin (organ or tissue), assuggested by [4,5] among others.Toward the goal of finding such a classification we will analyze the mutations on the Catalog of Somatic Mutations In Cancer database [6]. Here, we present a first approach focused on a set of trusted cancer driver mutation (DMs) affecting 43 oncokinasesdescribed on the Kin-driver database [7] and the RAS family of proteins [8,9].