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List of works by Ana Peixoto

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

scientific article published in October 2011

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

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

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

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.

scientific article published on April 2016

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas

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

Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer

scientific article published in August 2011

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

scientific article published on 29 July 2012

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

scientific article published on October 2010

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

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

High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer

scientific article

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

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

scientific article published on 15 July 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

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

Intraepidermal epidermotropic metastatic melanoma: a clinical and histopathological mimicker of melanoma in situ occurring in multiplicity

scientific article published on 24 February 2011

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

scientific article

Molecular characterization of a rare MLL–AF4 (MLL–AFF1) fusion rearrangement in infant leukemia

scientific article published in October 2007

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

Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.

scientific article

TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired HGPIN lesions

scientific article

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

scientific article published on 26 May 2009

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

scientific article

The Brazilian Founder MutationTP53p.R337H is Uncommon in Portuguese Women Diagnosed with Breast Cancer

scientific article published on 23 July 2014

The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys

scientific article published on 01 March 2003

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

scientific article published on 27 December 2012

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 nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families

scientific article published on 26 April 2019

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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