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Author

Patrícia Rocha

Observed names: P Rocha, P. Rocha, Patricia Rocha
Institution: IPO Porto
ORCID: 0000-0001-6275-026X
Observed ORCID: 0000-0001-6275-026X
OpenAlex ID: A5024114732
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
2008 · Ana Peixoto, Catarina Santos, et al. · Breast Cancer Research and Treatment · 70
Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia
2003 · N Cerveira, C Correia, et al. · Leukemia · 67
POLE somatic mutations in advanced colorectal cancer
2017 · Joana Guerra, Carla Pinto, et al. · Cancer Medicine · 51
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High resolution melting analysis of KRAS, BRAF and PIK3CA in KRASexon 2 wild-type metastatic colorectal cancer
2013 · Joana G Guedes, Isabel Veiga, et al. · BMC Cancer · 48
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The role of targeted BRCA1 / BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry
2014 · A. Peixoto, C. Santos, et al. · Clinical Genetics · 41
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families
2006 · Ana Peixoto, Natália Salgueiro, et al. · Familial Cancer · 40
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
2010 · Ana Peixoto, Catarina Santos, et al. · Breast Cancer Research and Treatment · 39
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Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer
2011 · Pedro Pinto, Patrícia Rocha, et al. · Cancer Genetics · 37
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Altered Expression of MGMT in High-Grade Gliomas Results from the Combined Effect of Epigenetic and Genetic Aberrations
2013 · João Ramalho-Carvalho, Malini Pires, et al. · PLoS ONE · 34
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Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene
2012 · Ana Peixoto, Manuela Pinheiro, et al. · Journal of Human Genetics · 32
Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients
2003 · Nuno Cerveira, Lurdes Torres, et al. · International Journal of Cancer · 32
Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families
2014 · Catarina Santos, Ana Peixoto, et al. · Journal of Molecular Diagnostics · 31
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity
2016 · Pedro Pinto, Paula Paulo, et al. · Breast Cancer Research and Treatment · 28
Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes
2017 · Paula Paulo, Pedro Pinto, et al. · Journal of Molecular Diagnostics · 25
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
2016 · Pedro Pinto, Ana Peixoto, et al. · PLoS ONE · 22
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Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin
2009 · Catarina Santos, Ana Peixoto, et al. · Familial Cancer · 12
Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal
2015 · Carla Pinto, Manuela Pinheiro, et al. · Journal of Human Genetics · 11
KRAS and NRAS mutational analysis in plasma ctDNA from patients with metastatic colorectal cancer by real-time PCR and digital PCR
2022 · Manuela Pinheiro, Ana Peixoto, et al. · International Journal of Colorectal Disease · 8
Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu
2008 · Ana Peixoto, Catarina Santos, et al. · Breast Cancer Research and Treatment · 8
Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression
2016 · Verónica Cabreira, Carla Pinto, et al. · Familial Cancer · 5
411 Highly sensitive detection of the MGB1 transcript(mammaglobin) in the peripheral blood of breast cancer patients
2003 · N. Cerveira, L. Torres, et al. · European Journal of Cancer Supplements · 3
Molecular characterisation of Mozambican patients diagnosed with colorectal adenocarcinoma
2025 · Carlos Selemane, Dylan Ferreira, et al. · Journal of Gastrointestinal Oncology · 2
Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patients
2023 · Manuela Pinheiro, Ana Peixoto, et al. · Pharmacogenetics and Genomics · 2
Long-term survival with unmethylated MGMT glioblastoma multiforme
2011 · Joana Savva-Bordalo, André Soares, et al. · International Journal of Case Reports and Images · 2
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P3.01-049 T790M Mutation Detection, Clinical Characteristics and Impact in NSCLC Patients Treated with EGFR Tyrosine Kinase Inhibitors
2017 · L. Bei, J. Oliveira, et al. · Journal of Thoracic Oncology
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Works count: 29
Citation count: 650
H-index: 15
I10-index: 17
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