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List of works by Catarina Santos

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

scientific article

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

scientific article published on 7 July 2006

Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors

scientific article

Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal

scientific article published on 8 October 2015

Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation

scientific article published on 17 January 2018

EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective study

scientific article published on 29 July 2012

FOXE1 polymorphisms are associated with familial and sporadic nonmedullary thyroid cancer susceptibility

scientific article published in December 2012

Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies

scientific article published on October 2010

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene

scientific article published on 6 December 2012

Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin

scientific article published on 3 January 2009

Hybrid oncocytic/chromophobe renal cell tumor: An integrated genetic and epigenetic characterization of a case

scientific article published on 18 October 2018

Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients

scientific article published on 15 July 2015

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

scientific article

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu.

scientific article

POLE somatic mutations in advanced colorectal cancer

scientific article published on 26 October 2017

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families

scientific article published on 5 March 2014

Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression

scientific article published on 31 August 2016

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal

scientific article published on 25 March 2008

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

scientific article published on 20 August 2015

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

scientific article published on 26 July 2014

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes

scientific article published in July 2017

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