about
Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients.Altered expression of MGMT in high-grade gliomas results from the combined effect of epigenetic and genetic aberrations.High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancerAnalysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.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 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.Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156_157insAlu.Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemiaCo-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equalGenomic characterization of two large Alu-mediated rearrangements of the BRCA1 geneComparison 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 Syndromes
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Patrícia Rocha
@ast
Patrícia Rocha
@en
Patrícia Rocha
@es
Patrícia Rocha
@nl
Patrícia Rocha
@sl
type
label
Patrícia Rocha
@ast
Patrícia Rocha
@en
Patrícia Rocha
@es
Patrícia Rocha
@nl
Patrícia Rocha
@sl
prefLabel
Patrícia Rocha
@ast
Patrícia Rocha
@en
Patrícia Rocha
@es
Patrícia Rocha
@nl
Patrícia Rocha
@sl
P106
P1153
8136972500
P21
P31
P496
0000-0001-6275-026X
P569
2000-01-01T00:00:00Z