Translational Research On Hereditary Cancer

Description

The Translational Research Team in Hereditary Cancer at the Instituto de Investigación Hospital 12 de Octubre aims to investigate the clinical and molecular characteristics of tumors associated with germline mutations, as well as to contribute to the development of new screening and management strategies for cancer patients carrying germline mutations.

Inherited mutations in cancer predisposition genes are more common among cancer patients than previously recognized. This has led most scientific societies to revise and expand their recommendations for genetic testing in cancer patients and, subsequently, in their relatives. Furthermore, the implementation of precision oncology often requires tumor sequencing to identify predictive biomarkers, and a significant proportion of alterations found in cancer risk genes are of germline origin. Therefore, it is likely that the number of germline mutation carriers will increase in the near future. Unfortunately, the clinical implications of these germline genetic variants remain largely unknown, which is particularly concerning in high-incidence tumors such as prostate cancer.

Dr. Castro is a clinical investigator whose research interests span from preclinical studies to clinical trials. Her work has significantly contributed to understanding the implications of hereditary alterations in prostate cancer, particularly those affecting BRCA2 function. Over the years, Dr. Castro’s research has demonstrated that BRCA2 germline mutations are an independent prognostic factor for prostate cancer outcomes across different disease stages. She has established numerous national and international collaborations to investigate how germline variants influence response to various therapies and affect the prognosis of prostate cancer patients. She led the first molecular characterization of prostate tumors associated with germline BRCA2 mutations, and her team continues to investigate the distinct features of these tumors.

One of the team’s main objectives is the integration of germline variants with different tumor characteristics (histology, genomics, transcriptomics, etc.) as a step forward in precision oncology. This integrative approach will help refine prognostic assessments for germline mutation carriers, improve understanding of treatment responses, and foster the development of new therapeutic strategies.

In addition, a more detailed characterization of hereditary tumors may lead to the development of novel treatment strategies for mutation carriers.

Main Research Lines:

• Study of the hereditary component of common tumors and the clinical implications of germline mutations in prevalent cancers.

• Molecular characterization of tumors associated with germline mutations.

• Integration of germline and somatic information in common cancers.

• Development of new screening, follow-up, and treatment strategies for hereditary cancer patients, including clinical trials.