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EGA Institute for Women's Health

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Current Research Work

Key previous findings:

  • We demonstrated that BRCA1/2 loss of heterozygosity in the context of carriers of BRCA1/2 germline mutations is not an initiating cancer event in the breast (Martins et al, Cancer Discovery, 2012).
  • We defined a haploinsufficient phenotype in the normal breast of carriers of BRCA1/2 mutations, characterized by chromosomal missegregation.
  • We used a combined approach merging imaging and genomic analyses to define new drivers of high-grade serous ovarian cancer (Martins et al, Genome Biology, 2014; Martins et al, British Journal of Cancer, 2020).
  • We recently deconvoluted the genomic complexity of high-grade serous ovarian cancer by analyzing multiple cohorts of the disease and defining recurrent early clonal driver events that inform response to different drug treatments and may pave the path to new targeted therapies (Martins et al, Nature Communications, 2022). 

Current research work: 

We are currently interested in building on previous work to better understand genomic instability in the normal tissues (with special focus in the fallopian tubes, as the site of origin for high-grade serous ovarian cancer) and cancer progression and resistance, by identifying specific clonal and sub clonal drivers and they can explain response to specific drug agents. We use different models to test our hypotheses, including cell lines, primary human tissues, organoids, and informatic analyses of existing genomic data produced the group and public datasets.

Dr. Martins has initiated and led the TARGET (Translational Analysis and Research in Gynaecological Epithelial Tissues) - FAL01 study, which is a prospective observational study with the aim of understanding the biology of the fallopian tube in the context of cancer, in high-risk genetic participants and in low-risk controls.

Previous work suggests that high-grade serous ovarian cancer (HGSC) can only be significantly impacted if detected at pre-cancerous stage. Dr. Martins has co-established and co-led the NEMO (Novel Early Markers for Ovarian Cancer) Consortium, which uses a multi-omics approach in order investigate new strategies for HGSC screening and detection of pre-cancerous alterations (serous intra-epithelial carcinoma/STIC).