List of works - Manuela Pinheiro

A novel MLL-SEPT2 fusion variant in therapy-related myelodysplastic syndrome

scientific article published in August 2008

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

scientific article published in October 2011

A novel spliced fusion of MLL with CT45A2 in a pediatric biphenotypic acute leukemia. ⬇️

scientific article

Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene.

scientific article published on 13 January 2011

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

BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations

scientific article published on 16 November 2012

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.

scientific article published on April 2016

Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors

scientific article

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

Coexistence of alternative MLL–SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25)

scientific article published in February 2010

Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer

scientific article published in August 2011

Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation

scientific article published on 17 January 2018

Correspondence: SEMA4A variation and risk of colorectal cancer

scientific article

Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies

scientific article published on October 2010

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

scientific article published on 6 December 2012

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

scientific article published on 25 March 2018

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

Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways

scientific article published on 21 October 2009

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

scientific article

Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients

scientific article published on 15 July 2015

Identification of previously unrecognized FAP in children with Gardner fibroma

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

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

scientific article

MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease

scientific article published on 29 August 2006

Mitochondrial genome alterations in rectal and sigmoid carcinomas

scientific article published in July 2009

Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions

scientific article published on 19 May 2008

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

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

Potential clinical applications of circulating cell-free DNA in ovarian cancer patients

scientific article published on 18 December 2018

Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients

scientific article

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

scientific article

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

scientific article

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

scientific article published on 06 October 2018

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

scientific article published on 26 May 2009

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

scientific article

The Brazilian Founder MutationTP53p.R337H is Uncommon in Portuguese Women Diagnosed with Breast Cancer

scientific article published on 23 July 2014

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

scientific article published on 27 December 2012

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 nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families

scientific article published on 26 April 2019

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

scientific article published on 20 August 2015

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

scientific article published on 26 July 2014

Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss

scientific article published on 13 November 2019

List of works by Manuela Pinheiro

A novel MLL-SEPT2 fusion variant in therapy-related myelodysplastic syndrome

A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

A novel spliced fusion of MLL with CT45A2 in a pediatric biphenotypic acute leukemia. ⬇️

Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene.

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

BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.

Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors

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

Coexistence of alternative MLL–SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25)

Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer

Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation

Correspondence: SEMA4A variation and risk of colorectal cancer

Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies

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

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

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

Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways

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

Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients

Identification of previously unrecognized FAP in children with Gardner fibroma

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.

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease

Mitochondrial genome alterations in rectal and sigmoid carcinomas

Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions

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

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

Potential clinical applications of circulating cell-free DNA in ovarian cancer patients

Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

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

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation

The Brazilian Founder MutationTP53p.R337H is Uncommon in Portuguese Women Diagnosed with Breast Cancer

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

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

The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer

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

Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss