about
No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatinChromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumorsHigh resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancerIdentification of previously unrecognized FAP in children with Gardner fibromaAnalysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal CancerTarget gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutationMSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.POLE somatic mutations in advanced colorectal cancer.Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.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.Pathologic Findings in Prophylactic and Nonprophylactic Hysterectomy Specimens of Patients With Lynch Syndrome.SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23).A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome familiesHereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathwaysMitochondrial genome alterations in rectal and sigmoid carcinomasEGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective studyCGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation
P50
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P50
description
researcher ORCID: 0000-0001-8689-3388
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name
Carla Pinto
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Carla Pinto
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Carla Pinto
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Carla Pinto
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Carla Pinto
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type
label
Carla Pinto
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Carla Pinto
@en
Carla Pinto
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Carla Pinto
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Carla Pinto
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prefLabel
Carla Pinto
@ast
Carla Pinto
@en
Carla Pinto
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Carla Pinto
@nl
Carla Pinto
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P106
P108
P1153
14523165700
P21
P31
P496
0000-0001-8689-3388