Giovana T. Torrezan

Agulha, SP, Brazil

Last Updated: 09/26/2026

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Found 65 publications

Rare solid tumours as indicators of hereditary cancer syndromes.

Rare solid tumours as indicators of hereditary cancer syndromes.

Journal: European journal of human genetics : EJHG

Published: November 02, 2025

Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance Reclassification.

Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance Reclassification.

Journal: Human mutation

Published: November 01, 2025

Alkylating-induced hypermutation in pancreatic neuroendocrine tumours.

Alkylating-induced hypermutation in pancreatic neuroendocrine tumours.

Journal: BMJ oncology

Published: July 28, 2025

Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.

Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.

Journal: JCI insight

Published: July 23, 2025

Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

Journal: European journal of human genetics : EJHG

Published: July 07, 2025

KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.

KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.

Journal: International journal of cancer

Published: June 16, 2025

Pancreatic neuroendocrine tumors and MUTYH pathogenic variants: a multinational study.

Pancreatic neuroendocrine tumors and MUTYH pathogenic variants: a multinational study.

Journal: Therapeutic advances in medical oncology

Published: March 04, 2025

Subclonal loss of DNA mismatch repair proteins in endometrial carcinomas: an unusual pattern with distinct molecular characteristics.

Subclonal loss of DNA mismatch repair proteins in endometrial carcinomas: an unusual pattern with distinct molecular characteristics.

Journal: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society

Published: February 20, 2025

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Journal: Translational oncology

Published: August 31, 2024

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Characterization of Screening Strategies for Lynch Syndrome in Latin America.

Characterization of Screening Strategies for Lynch Syndrome in Latin America.

Journal: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association

Published: June 29, 2024

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.

Journal: Familial cancer

Published: March 26, 2024

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Last Updated: 09/26/2026