Mariona Terradas

Cerdanyola Del Valles, CT, Spain

Last Updated: 09/26/2026

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Found 32 publications

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Journal: JCO precision oncology

Published: April 16, 2026

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

Journal: American journal of medical genetics. Part A

Published: November 19, 2025

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.

Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Published: April 28, 2025

Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer.

Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer.

Journal: Clinical epigenetics

Published: February 06, 2025

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Journal: HGG advances

Published: December 16, 2024

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Journal: European journal of human genetics : EJHG

Published: February 05, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: October 31, 2023

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.

Journal: European journal of human genetics : EJHG

Published: January 05, 2023

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome.

Journal: Genes & diseases

Published: November 17, 2022

Wnt genes in colonic polyposis predisposition.

Wnt genes in colonic polyposis predisposition.

Journal: Genes & diseases

Published: October 03, 2022

Role of H4K16 acetylation in 53BP1 recruitment to double-strand break sites in in vitro aged cells.

Role of H4K16 acetylation in 53BP1 recruitment to double-strand break sites in in vitro aged cells.

Journal: Biogerontology

Published: April 16, 2022

Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer.

Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer.

Journal: Cancers

Published: January 17, 2022

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Last Updated: 09/26/2026