List of works - Patrícia Rocha

Altered expression of MGMT in high-grade gliomas results from the combined effect of epigenetic and genetic aberrations

scientific article

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

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

scientific article published on 7 July 2006

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

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

scientific article published on 14 August 2003

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

Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients

scientific article

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

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

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 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

List of works by Patrícia Rocha

Altered expression of MGMT in high-grade gliomas results from the combined effect of epigenetic and genetic aberrations

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

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal

Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer

Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene

Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin

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

Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patients

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

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.

POLE somatic mutations in advanced colorectal cancer

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families

Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes