Alicia L. Bruzos

The Francis Crick Institute

Shell color shows broad variation within mollusc species and despite information on the genetic pathways involved in shell construction and color has recently increased, more studies are needed to understand its genetic architecture. The common cockle (Cerastoderma edule) is a valuable species from ecological and commercial perspectives which shows...

Transmissible cancers are malignant cell clones that spread among individuals through transfer of living cancer cells. Several such cancers, collectively known as bivalve transmissible neoplasia (BTN), are known to infect and cause leukaemia in marine bivalve molluscs. This is the case of BTN clones affecting the common cockle, Cerastoderma edule ,...

Congenital melanocytic naevi (CMN) are moles present at birth, and when multiple or very extensive can involve other organ systems as well as predisposing to melanoma. Some CMN patients develop a highly proliferative multinodular phenotype leading to chronic intense pruritus, and the causes for that specific phenotype progression are poorly underst...

Shell colour pattern shows broad diversity in molluscs, and both genetic and environmental factors seem to interact to some extent on the final phenotype. Despite information on the genetic component and pathways involved in shell construction and colour has increased in the last decade, more data are needed particularly to understand colour variat...

Clonally transmissible cancers are tumour lineages that are transmitted between individuals via the transfer of living cancer cells. In marine bivalves, leukaemia-like transmissible cancers, called hemic neoplasia (HN), have demonstrated the ability to infect individuals from different species. We performed whole-genome sequencing in eight warty ve...

Geographic origin is directly linked to the quality and commercial value of bivalves. The globalization of the seafood trade and the increasing number of fraudulent practices in the bivalves industry has prompted consumers to become increasingly aware on the geographic origin of the seafood they consume. To enhance consumers' confidence and allow a...

Most cancers are characterized by the somatic acquisition of genomic rearrangements during tumour evolution that eventually drive the oncogenesis. Here, using multiplatform sequencing technologies, we identify and characterize a remarkable mutational mechanism in human hepatocellular carcinoma caused by Hepatitis B virus, by which DNA molecules fro...

Most cancers are characterized by the somatic acquisition 52 of genomic rearrangements during tumour evolution that eventually drive the oncogenesis. There are different mutational mechanisms causing structural variation, some of which are specific to particular cancer types. Here, using multiplatform sequencing technologies, we identify and charac...

Clonally transmissible cancers are tumour lineages that are transmitted between individuals via the transfer of living cancer cells. In marine bivalves, leukemia-like transmissible cancers, called hemic neoplasia, have demonstrated the ability to infect individuals from different species. We performed whole-genome sequencing in eight warty venus cl...

About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 1...

About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 1...

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG...

Cockles, Cerastoderma edule frequently suffer high prevalence of disseminated neoplasia throughout its geographical distribution. However, a natural population with gonadal neoplasia has never been detected before. Germinoma prevalences of 15.4% were found in Denmark populations using histopathological techniques. This germinoma affects only male c...

The recent discovery of clonally transmissible cancers, somatic cell lineages capable of infecting other individuals through the physical transfer of living cells, means having a great model to study cancer metastasis. Disseminated neoplasia, a leukaemia-like cancer is found in multiple bivalve species around the world, including cockles and by ana...

DNA methylation is the best studied epigenetic marker, being essential in regulating gene expression and gene silencing in the eukaryotic genome. Different cell types have specific and pre-established DNA methylation profiles according to their organic function. Alterations in this profile may lead to cell malfunction, illness and, ultimately, tumo...

Clonally transmissible cancers are somatic cell lineages transmitted between individuals via the transfer of living cancer cells. There are only three known types of naturally occurring clonally transmissible cancers, one of which is a leukaemia-like cancer found in cockles, called disseminated neoplasia (DN). Using DN as a model to identify the ge...

Cockle Cerastoderma edule is a species of great commercial interest in Galicia, lt is one of the bivalve species with more annual catches and, therefore, has a high economic and ecological importance in this region. Pathological studies associated with cockle mortality events in Galicia detected high prevalence of a pathological condition known as...

Cancers develop through somatic mutagenesis, however germline genetic variation can markedly contribute to tumorigenesis via diverse mechanisms. We discovered and phased 88 million germline single nucleotide variants, short insertions/deletions, and large structural variants in whole genomes from 2,642 cancer patients, and employed this genomic res...

Transmissible cancers are somatic cell lineages that spread between individuals via the physical transfer of living cancer cells, becoming able to survive in time through multiple generations due to an unlimited proliferation among host population. To our knowledge, only eight transmissible cancers have been reported in nature. The oldest one of...

La accesibilidad a las técnicas de secuenciación masiva (NGS), hasta hace poco restringidas a estudios de biomedicina, están revolucionando los estudios genéticos. En este estudio se presentan datos preliminares del tamaño del genoma del berberecho Cerastoderma edule, punto de partida para la obtención del genoma de referencia de esta especie. La s...

La accesibilidad a las técnicas de secuenciación masiva (NGS), hasta hace poco restringidas a estudios de biomedicina, están revolucionando los estudios genéticos. En este estudio se presentan datos preliminares del tamaño del genoma del berberecho Cerastoderma edule, punto de partida para la obtención del genoma de referencia de esta especie. La s...

About half of all cancers have somatic integrations of retrotransposons. To characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,774 cancer genomes from 37 histological cancer subtypes. We identified 20,230 somatically acquired retrotransposition events, affecting 43% of samples, and spa...

Retrotransposons are repetitive elements that are constantly on the move. By poaching certain enzymes, they copy and insert themselves at new sites in the host genome generating structural variability of potential functional importance for the cancer cell. Retrotransposons can also promote genomic rearrangements by recombination, and mobilize codin...