IdISSC Research Seminar – February’23

1 February 2023

Online modality: URL for accessing the seminars:

Classroom: Aula Fernández Cruz of the teaching pavilion of the Hospital Clínico San Carlos.


Results of the VALUE project: Process mining in musculoskeletal diseases.

Dr. Luis Rodríguez Rodríguez.

Senior Researcher. Musculoskeletal pathology research group. Health Research Institute of the Hospital Clínico San Carlos (IdISSC).


The digital transformation of healthcare and effective adoption of value-based healthcare could reduce the burden of disease by redefining protocols, pathways and workflows, with the aim of increasing efficiency. For this to be possible, healthcare professionals and ICT experts need to speak the same language. Unfortunately, the adoption of digital and artificial intelligence tools remains poor, as it does not overcome the acceptance barriers that exist in a strongly evidence- and insight-driven working environment. In order to achieve this optimisation and efficient system redesign, process mining can be a key element. In this project, we have used these tools to study the flow of patients with musculoskeletal diseases between care levels and between specialties.

13:30 h

Results of the BRIDGES project: Genetic Susceptibility to Breast Cancer.

Dr. Miguel de la Hoya Mantecón.

Senior Researcher. Clinical and Translational Research in Oncology Group. Molecular Oncology Laboratory. Health Research Institute of the Hospital Clínico San Carlos (IdISSC).


The Clinical and Translational Research in Oncology group at IdISSC is a founding member of the international BRIDGES consortium (Breast Cancer Risk after Diagnostic Gene Sequencing, This consortium was created in 2014 with the fundamental objective of ensuring the correct translation to the clinic (genetic counselling in familial breast cancer) of the results generated by NGS panels. The consortium has received European funding in the period 2015-2021 (H2020 grant agreement 634935).

The seminar will present some of the most relevant results generated by BRIDGES in recent years, including risk estimates for 34 candidate breast cancer susceptibility genes, the development of tools to standardise the clinical classification of variants in the sub-group of clinically relevant genes (ATM, BARD1, BRCA1, BRCA2, CHEK2, RAD51C, RAD51D, PALB2), and studies that have demonstrated the relevance of splicing alterations in genetic susceptibility to breast cancer.


Li S et al. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol. 2022;40(14):1529-1541. Dorling L et al. Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Med. 2022 ;14(1):51. Dorling L et al. Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women. N Engl J Med. 2021 Feb 4;384(5):428-439. Valenzuela-Palomo A. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants. J Pathol. 2022 Mar;256(3):321-334. Sanoguera-Miralles L et al. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C. Cancers (Basel). 2022;14(12):2960. Bueno-Martínez E et al. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants. J Pathol. 2022;258(1):83-101. Bueno-Martínez E et al. RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants. Cancers (Basel). 2021;13(11):2845.

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