Publications by authors named "Alicia L Bruzos"

Transmissible cancers are a rare phenomenon in which cancer cells are passed between individuals, leading to the development of neoplasia in the host organism. Transmissible cancers have been identified in three independent clonal lineages in mammals and eight different clonal lineages in bivalves. This study focused on the development of a multiplex PCR assay for the detection of two types of bivalve transmissible neoplasias (BTN) of cockles Cerastoderma edule (CedBTN1 and CedBTN2).

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Article Synopsis
  • - Transmissible cancers like bivalve transmissible neoplasia (BTN) can spread between marine organisms, particularly affecting species like the common cockle (Cerastoderma edule) along the Atlantic coasts of Europe and Africa.
  • - Researchers examined over 6,800 cockles, diagnosed 390 cases of BTN tumors, and analyzed genomic variation in 61 tumors, confirming the presence of two BTN lineages with links to blood cell origins.
  • - The study found significant genomic instability in the BTN tumors, including whole-genome duplications and mutations, and suggested a long history of clonal evolution in these transmissible cancers.
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Among children with multiple congenital melanocytic nevi, 25% have no established genetic cause, of whom many develop a hyperproliferative and severely pruritic phenotype resistant to treatment. Gene fusions have been reported in individual cases of congenital melanocytic nevi. We studied 169 patients with congenital melanocytic nevi in this study, 38 of whom were double wild type for pathogenic NRAS/BRAF variants.

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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 important variation in shell color across Northeast Atlantic. In this study, we constructed a high-density genetic map, as a tool for screening common cockle genome, which was applied to ascertain the genetic basis of color variation in the species.

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  • * Researchers sequenced the genomes of eight warty venus clams with HN from two locations over 1000 nautical miles apart, revealing the presence of genetic material from two clam species.
  • * Phylogenetic analysis indicated that the leukaemia originated in striped venus clams and was transmitted to warty venus clams, where it continues to spread as a contagious cancer in the Southern European seas.
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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 authorities to effectively enforce regulations and contain risks that threaten public health, fast and accurate tools must be made available to confirm claims along the trade chain on the geographic origin of bivalves.

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  • Most cancers, including hepatocellular carcinoma (HCC), often develop through genomic changes that promote tumor growth, with specific focus on the effects of the Hepatitis B virus (HBV).
  • HBV integrates its DNA into the tumor genome, leading to significant alterations like chromosomal fusions and deletions, contributing to cancer development in about 8% of HCC cases.
  • These mutations usually happen early in liver cancer evolution, sometimes up to 20 years before a cancer is diagnosed, highlighting the need to study liver cancer genomes for potential HBV-related changes.
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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 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types.

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