Jose Luis Soto

Associate Professor

Universidad de Alicante

Spain

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Jose Luis Soto is an Associate Professor at Universidad de Alicante in Spain. His research focuses on hereditary cancer genetics, including the identification of germline mutations in DICER1, the characterization of constitutional MLH1 epimutations, and the exploration of glioblastoma therapy targets. He has contributed to the understanding of hereditary leiomyomatosis and renal cell cancer syndrome, as well as the use of multi-gene panels for hereditary digestive cancer risk assessment.

Jose Luis Soto

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Articles (16)

Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

Identification of new targets for glioblastoma therapy based on a DNA expression microarray

Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations

Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium.

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.

Cell-free circulating tumor DNA in colorectal cancer: a proof of concept with simplified methodology.

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Lynch-like Syndrome: Potential Mechanisms and Management

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome.

SEOM clinical guideline on hereditary colorectal cancer (2019)

Collaborators (17)

Juan de Dios García Díaz

Anna Ruiz

José Martín-Nieto

Srdjan Novaković

ANGEL ALONSO

Luis Gomez-Perez

Victor-Manuel Barbera

Paula Climent-Cantó

Mariona Terradas

Laura Pena-Couso

Manuel António Rodrigues Teixeira

Jeanette C. Reece

Maite Herraiz

Carolina Lemos

Megan Hitchins

Lidia Feliubadaló

Fátima Marín Nieto

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