i3S researchers honored by the Society of Human Genetics
The research developed at i3S was spotlighted at the 28th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), with three researchers from the “Expression Regulation in Cancer” group being distinguished by the Scientific Committee. José García Peláez won the SPGH 2024 Award, Rita Barbosa-Matos received the award for Best Oral Communication in Clinical Research, and the master's student Ana Catarina Nunes won an ESHG National Fellowship.
In addition to the numerous papers submitted by i3S students and researchers, which were presented as posters and oral communications, i3S was strongly represented in the structure of this SPGH Meeting: Carla Oliveira, leader of the ‘Expression Regulation in Cancer’ group, chaired the conference; Elsa Logarinho was the keynote speaker; Pedro Brites was a guest speaker; Helder Maiato coordinated a workshop on ‘Scientific Writing’; and researchers Sónia Sousa and Sofia Quental led a workshop on ‘Variant classification’. i3S scientists João Vinagre and Jorge Oliveira were also part of the Scientific Committee, and the local Organising Committee included researchers Celina São José, Silvana Lobo, Sofia Quental, and Mariana Ribeiro.
Mutations that increase the risk of Hereditary Diffuse Gastric Cancer revealed
The SPGH 2024 Award, which selects the most relevant scientific article of the year 2023 in the area of Human Genetics, distinguished with 1500 euros José García Peláez, first author of the article “Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes”, published in Lancet Oncology in January 2023.
This publication, coordinated by i3S, describes a multicentre study involving 10 European countries, coordinated and led by i3S and covering 29 institutions, of which 13 are Portuguese. All this work, including the clinical and molecular data used, as well as the innovative approach for the analysis and application of these data, was designed in the collaborative environment of the European Reference Network for Rare Genetic Tumour Risk Syndromes (ERN-GENTURIS) and uses a “genotype-first” approach, applied to the largest cohort of carriers of rare variants in the CDH1 gene and their relatives with available clinical data, to improve HDGC clinical guidelines and criteria for genetic testing of the CDH1 gene.
This study, which analyzed molecular and clinical data from 854 families or individuals carrying rare variants in CDH1 and 1021 relatives, “provides convincing and statistically robust evidence for adjusting the current clinical criteria for testing, providing for the first time evidence of the phenotypes associated with CDH1”. The results of this work, emphasizes José García Peláez, “will help in the interpretation of variants in molecular diagnostic laboratories worldwide and will improve the clinical management of families at high risk of developing diffuse gastric cancer and/or lobular breast cancer”.
Winning this award, adds the researcher, “gave me the opportunity to present this project at the Annual Meeting of the Portuguese Society of Human Genetics. This work involved the coordination of different groups from i3S, Portugal and the European Reference Network GENTURIS and was an excellent opportunity to develop work with great potential for impact in the clinic and in families with early predisposition to diffuse gastric cancer and lobular breast cancer.
Prevention strategies tailored to populations at risk of cancer
The award for the Best Oral Communication in Clinical Research, worth 500 euros, awarded to researcher Rita Barbosa-Matos, recognizes the work developed during her doctoral project and currently being continued in her postdoctoral research at i3S, in collaboration with the São João Local Health Unit, the Léon Bérard Center in Lyon and the i3S Center for Predictive and Preventive Genetics (CGPP).
This work focuses on nine Portuguese families from the North, followed for more than 20 years at the reference center for the Rare Syndrome of Hereditary Diffuse Gastric Cancer (HDGC). These families, explains the researcher, “share an ancestral variant in the CDH1 gene and we explored detailed clinical data to personalise the risk estimates for gastric cancer and breast cancer, taking into account the particularities of the local population”. For Rita Barbosa-Matos, “this work is an example of how translational research can have a direct impact on people’s lives, allowing us to design prevention strategies tailored to the needs of populations at risk for cancer”.
As such, adds the researcher, “receiving this award was especially gratifying, as it represents recognition of a joint and interdisciplinary effort between national and international institutions. It is also a tribute to the families I had the opportunity to meet, and who inspire us to continue researching ways to improve prevention and clinical monitoring of those diagnosed with rare hereditary diseases. Some of these families tell their stories in this news report”.
Identifying markers that increase sensitivity and resistance to treatment
Ana Catarina Nunes, a Master's student developing research in the "Expression Regulation in Cancer" group at i3S, was awarded the "ESHG National Fellowship Young Investigator" for her presentation entitled "Genome-wide screen identifies RAB14 as a new target for gastric cancer treatment".
The ESHG National Fellowship is the responsibility of the European Society of Human Genetics and is awarded annually to a researcher under 35 years of age who is a member of the SPGH, and who has distinguished themselves through their work in the area of human genetics. This award funds registration, travel, and accommodation at the next ESHG meeting (which will take place in Milan in May 2025) for the presentation of the work.
This project was developed as part of Ana Catarina Nunes' master's thesis in Oncology at the Abel Salazar Institute of Biomedical Sciences (ICBAS), recently defended under the supervision of researchers João Neto and Carla Oliveira. The project, explains the young researcher, “aims to understand the biology of HER2-positive gastric cancer and try to identify markers that increase sensitivity and resistance to treatment.”
For Ana Catarina Nunes, “it was a privilege to win this award. As a young researcher who has just defended her master’s thesis, it is a huge incentive both personally and scientifically and makes me very proud of the work I have done. I would therefore like to thank ESHG for this award, and the scientific committee of SPGH for selecting me.”