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TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired HGPIN lesionsGenome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer TypesIdentification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancerIdentification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer PatientsAssociation of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.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.Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutationBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian CancersBRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies.CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas.The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.POLE somatic mutations in advanced colorectal cancer.Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression.Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu.The FMR1 CGG repeat and linked microsatellite markers in two Basque valleysCo-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equalThe Brazilian Founder MutationTP53p.R337H is Uncommon in Portuguese Women Diagnosed with Breast CancerGenomic characterization of two large Alu-mediated rearrangements of the BRCA1 geneA novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome familiesComparison of methodologies for KRAS mutation detection in metastatic colorectal cancerValidation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing SyndromesEGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective studyIntraepidermal epidermotropic metastatic melanoma: a clinical and histopathological mimicker of melanoma in situ occurring in multiplicityMolecular characterization of a rare MLL–AF4 (MLL–AFF1) fusion rearrangement in infant leukemiaThe nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome familiesThe Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
P50
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P50
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P106
P108
P1153
57195146071
P21
P31
P496
0000-0002-1404-5897