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Manuela Pinheiro

Instituto Português de Oncologia Francisco Gentil

59

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759

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Next Generation Sequencing of Tumor and Matched Plasma Samples: Identification of Somatic Variants in ctDNA From Ovarian Cancer Patients

2021 Frontiers in Oncology
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Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects

2020 Frontiers in Oncology
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The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.

2020 Familial Cancer
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Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.

2020 Cancer Genetics and Cytogenetics
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The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families

2019 Genes, Chromosomes and Cancer
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Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation

2018 Cancer Medicine
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Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast

2018 Cancer Genetics and Cytogenetics
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Potential clinical applications of circulating cell-free DNA in ovarian cancer patients

2018 Expert Reviews in Molecular Medicine
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Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression

2017 Familial Cancer
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Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

2017 Virchows Archiv
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