Prof. Arcangela De Nicolo Group. Genetic susceptibility to breast cancer

  • Postal addressShow on map

    21 Konsula iela, Pharmaceutical Education and Research Centre - Room #114

    Rīga, LV-1007, Latvia

Organisation profile

Organisation profile

Research Mission

The Prof. Dr. med. De Nicolo group at Riga Stradiņš University (RSU) is committed to advancing knowledge of genetic susceptibility to cancer (primarily, breast and ovarian cancer) so that informed clinical choices can be made. By building and consolidating synergies across disciplines and through an ever-expanding solid network of international collaborations, the group tackles matters that extend beyond cancer genetics to translational and clinical oncology, epidemiology, and public health.

 

Focus Areas

  • Standardized data collection, curation, and federation
  • Interpretation, communication, and clinical application of germline genetic test results (emphasis on BRCA1 and BRCA2 genes and their so-called ‘variants of uncertain significance’, VUS) [Clinical Working Group, ENIGMA]
  • Reduced penetrance variants in breast/ovarian cancer genes (identification, refinement of associated cancer risk, and clinical management of carrier individuals) [Clinical Working Group, ENIGMA]
  • Genotype-phenotype relationships 
  • Education and training of health care professionals; cancer patients’ and citizens’ literacy on matters related to genetic susceptibility to cancer (identification of knowldge gaps and development of tailored educational initiatives) [EU-funded Joint Action on Personalized Cancer Medicine (subtask leader); Italian National Institute of Health]
  • Equity issues in the use of genetic testing and access to translational oncology [Clinical Working Group, ENIGMA]

 

Key discoveries/achievements

Coordinated worldwide effort for harmonized communication of genetic test results for breast cancer predisposition

Identification and classification of a novel founder variant in the BRCA1 gene

 

Methodology

Electronic surveys, observational (case-control, cohort) studies, federated analysis, bioinformatic analyses

 

Expanded Scope

Fostering multidisciplinary breast/ovarian cancer research to contribute to precision cancer prevention and care, and improved outcomes.

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being
  • SDG 4 - Quality Education
  • SDG 10 - Reduced Inequalities

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Collaborations and top research areas from the last five years

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  • A decalogue of Molecular Tumor Board (MTB) recommendations from the CAN.HEAL Consortium

    Ciliberto, G., De Maria, R., Giacomini, P., Trapani, V. (Corresponding Author), Betti, M., Bucci, G., Buglioni, S., D'Auria, L., De Angelis, R., De Nicolo, A., Dupain, C., Frederickx, N., Genuardi, M., Indraccolo, S., Kolanowska, M., Mazzarella, L., Nowak, F., Pallocca, M., Scerri, J. & Sgambato, A. & 7 others, Stoklosa, T., Van den Bulcke, M., Van Valckenborgh, E., von Bubnoff, N., Zeuli, M., Kamal, M. & Le Tourneau, C., 3 Jun 2025, In: European Journal of Cancer. 222, 8 p., 115433.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    1 Downloads (Pure)

  • Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

    Zanti, M., O'Mahony, D. G., Parsons, M. T., De Nicolo, A., Michailidou, K. (Corresponding Author), Dorling, L., Dennis, J., Boddicker, N. J., Chen, W., Hu, C., Naven, M., Yiangou, K., Ahearn, T. U., Ambrosone, C. B., Andrulis, I. L., Antoniou, A. C., Auer, P. L., Baynes, C., Bodelon, C. & Bogdanova, N. V. & 31 others, Bojesen, S. E., Bolla, M. K., Brantley, K. D., Camp, N. J., Campbell, A., Castelao, J. E., Cessna, M. H., Chang-Claude, J., Chen, F., Chenevix-Trench, G., Conroy, D. M., Czene, K., Domchek, S. M., Dörk, T., Dunning, A. M., Eliassen, A. H., Evans, D. G., Fasching, P. A., Figueroa, J. D., Flyger, H., Gago-Dominguez, M., García-Closas, M., Glendon, G., González-Neira, A., Grassmann, F., Hadjisavvas, A., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M. B. A. & Ho, W.-K., Dec 2025, In: Nature Communications. 16, 1, p. 1-18 18 p., 4852.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    1 Citation (Scopus)
    3 Downloads (Pure)

  • Exploring Literacy and Knowledge Gaps and Disparities in Genetics and Oncogenomics Among Cancer Patients and the General Population: A Scoping Review

    Nikitara, K. (Corresponding Author), Cardoso, M. L., Vicente, A. M., Batalha Silva Rasga, C. M., De Angelis, R., Chamoun Morel, Z., De Nicolo, A., Nomikou, M., Karamanidou, C. & Kakalou, C., 9 Jan 2025, In: Healthcare (Switzerland). 13, 2, 16 p., 121.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    File
    5 Downloads (Pure)
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