List of works - Giovana Tardin Torrezan

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

scientific article

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

scientific article

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report

scientific article

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants

scientific article published on 09 July 2020

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome

scientific article published on 5 October 2015

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

scientific article published on 7 May 2018

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

scientific article published on 19 June 2013

Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation

scientific article published on 31 August 2018

Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic.

scientific article published in June 2017

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

scientific article

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

scientific article published on 04 May 2020

Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer

article published in 2018

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

scientific article published on 5 April 2013

Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1.

scientific article published on 11 May 2017

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

scientific article published on 9 June 2014

The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study

scientific article published on 20 January 2021

List of works by Giovana Tardin Torrezan

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation

Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic.

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1.

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study