Scientific Program

Genome dynamics and function

UNITS IN THIS PROGRAM

Genome decoding Genome maintenance and instability

RESEARCH GROUP

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Genome instability and cancer predisposition

Aura Carreira Moreno

ORCID

Research

Group members

Publications

Genome stability is essential for survival and is also critical to prevent human diseases including cancer.
BRCA2 is a breast cancer susceptibility protein that preserves genome integrity through its role in DNA repair via homologous recombination. Using proteomics screens and other “”omics”” data together with information from variants of BRCA2 identified in patients as a genetic tool, we hope to shed light on the link between BRCA2 mutations, genome instability, and cancer predisposition.

Research

Genome stability is essential for survival in every organism allowing cells to faithfully transmit genetic information from generation to generation. Preserving genome stability is also critical to prevent several human diseases including cancer.

Our lab interrogates the cellular mechanisms (DNA repair pathways) deployed to preserve genome integrity with a particular focus on the high-fidelity DNA repair mechanism homologous recombination (HR) and the breast cancer susceptibility protein BRCA2 involved in this process, as a model.

Mutations in BRCA2 predispose to breast and ovarian cancer with high penetrance and they are also linked to other types of cancer such as prostate and pancreatic cancer as well as the cancer-predisposing syndrome Fanconi anemia. Thus, with this model, we hope to shed light on the link between BRCA2 mutations, genome instability, and cancer predisposition.

General questions:

What are the different mechanisms that BRCA2 (and its partner proteins) use to promote HR in the context of DNA double-strand breaks (DSB) and replication stress?
How are the chromosome integrity mechanisms of the cell coordinated through the cell cycle?
Which mutations in BRCA2 predispose to cancer and why?

Our tools:

We use a combination of biochemistry, cell biology, “omics” techniques, and BRCA2 missense variants of unknown significance (VUS) identified in breast cancer patients as a genetic tool.