List of works - Carla Pinto

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

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

CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation

scientific article published in 2006

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

scientific article

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

scientific article published on 17 January 2018

EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective study

scientific article published on 29 July 2012

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer

scientific article published on 23 December 2016

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 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

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

No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin

scientific article

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

Pathologic Findings in Prophylactic and Nonprophylactic Hysterectomy Specimens of Patients With Lynch Syndrome.

scientific article published in September 2016

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

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

scientific article

SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23).

scientific article

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

scientific article published on 27 December 2012

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

List of works by Carla Pinto

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

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

CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation

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

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

EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective study

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer

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 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

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

Mitochondrial genome alterations in rectal and sigmoid carcinomas

No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin

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

Pathologic Findings in Prophylactic and Nonprophylactic Hysterectomy Specimens of Patients With Lynch Syndrome.

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

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

SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23).

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 MSH2 c.388_389del mutation 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