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Carla Alexandra Cavaco Pinto. Concluiu o Mestrado em Mestrado em Oncologia em 2005 pela Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar e Licenciatura em Bioquímica em 2000 pela Universidade do Porto Faculdade de Ciências. É Técnica Superior de Saúde - Ramo de Genética no Instituto Português de Oncologia do Porto Francisco Gentil e é membro do Centro de Investigação deste mesmo instituto. Publicou 47 artigos em revistas especializadas. Recebeu 2 prémios. Atua na área de Ciências Naturais com ênfase em Ciências Biológicas com ênfase em Genética e Hereditariedade. No seu currículo Ciência Vitae os termos mais frequentes na contextualização da produção científica, tecnológica e artístico-cultural são: Cancer genetics; Cancer epigenetics; Cancer molecular genetics; Hereditary cancer syndromes; LYNCH syndrome; Colorectal cancer .
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Identification

Personal identification

Full name
Carla Alexandra Cavaco Pinto

Citation names

  • Pinto, Carla

Author identifiers

Ciência ID
271F-E46E-86E8
ORCID iD
0000-0001-8689-3388

Email addresses

  • carla.a.pinto@ipoporto.min-saude.pt (Professional)
  • ccp@ess.ipp.pt (Professional)

Addresses

  • Rua Dr. António Bernardino de Almeida, 400, 4200-072, Porto, Porto, Portugal (Professional)

Knowledge fields

  • Natural sciences - Biological Sciences - Genetics and Heredity

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Upper intermediate (B2) Advanced (C1)
Spanish; Castilian Proficiency (C2) Proficiency (C2) Upper intermediate (B2) Proficiency (C2)
Portuguese (Mother tongue)
Education
Degree Classification
2005
Concluded
 Mestrado em Oncologia (Mestrado)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Pesquisa de mutações no gene hMSH6 em jovens com cancro colo-rectal sem história familiar da doença" (THESIS/DISSERTATION)
 Muito Bom por Unanimidade
2000
Concluded
 Bioquímica (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"n/a" (THESIS/DISSERTATION)
 14
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2019/11 - Current Invited Assistant (Polytechnic Teacher) Escola Superior de Saúde do Instituto Politécnico do Porto , Portugal
2018/02 - 2018/07 Invited Assistant (Polytechnic Teacher) Escola Superior de Saúde do Instituto Politécnico do Porto , Portugal
2011/10 - 2012/09 Invited Assistant (Polytechnic Teacher) Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
2004/10 - 2012/09 Invited Assistant (University Teacher) Cooperativa de Ensino Superior Politécnico e Universitário, Portugal
2002/10 - 2004/09 Invited Assistant (Polytechnic Teacher) Cooperativa de Ensino Superior Politécnico e Universitário, Portugal

Other Careers

Category
Host institution 		Employer
2005 - Current Assistente (Técnico Superior de Saúde) Instituto Português de Oncologia do Porto Francisco Gentil Centro de Investigação, Portugal

Others

Category
Host institution 		Employer
2000/01 - 2005/12 Bolseira Instituto Português de Oncologia do Porto Francisco Gentil EPE, Portugal
Projects

Contract

Designation Funders
2017 - Current Sequenciação do exoma em famílias com alta incidência de cancro de origem genética desconhecida
CI-IPOP-57-2017
Researcher
2017 - Current Identificação de mutações germinativas por sequenciação de nova geração de painéis de genes em doentes com cancro gástrico tubular e misto tubular-difuso familiar
nº CI-IPOP-56-2017
Researcher
2017 - Current Validação de biópsias líquidas para teste de biomarcadores preditivos, monitorização de resposta à terapêutica e identificação de mecanismos de resistência em doentes com cancro
CI-IPOP-54-2017
Researcher
2016 - Current Deteção de alterações genéticas oncogénicas em DNA tumoral em circulação como ferramenta para diagnóstico precoce de cancro e seguimento em doentes com Síndrome de Lynch
nº CI-IPOP 36-2016
Researcher
2019/01/01 - 2019/12/31 Centro de Investigação do Instituto Português de Oncologia do Porto
UID/DTP/00776/2019
UID/DTP/04750/2019
UIDB/04750/2020
UIDB/00776/2020
Instituto Português de Oncologia do Porto Francisco Gentil EPE, Portugal

Instituto Português de Oncologia do Porto Francisco Gentil Centro de Investigação, Portugal

Universidade do Porto Instituto de Saúde Pública, Portugal

Universidade do Porto Unidade de Investigação em Epidemiologia, Portugal

Universidade do Porto Faculdade de Medicina, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2016/07/01 - 2019/07/01 Inherited predisposition to prostate cancer: finding the missing heritability by combining exome sequencing and haplotype analyses in a population with strong founder effects
PTDC/DTP-PIC/1308/2014
Instituto Português de Oncologia do Porto Francisco Gentil EPE, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2017 - 2019 Identificação de mutações germinativas por sequenciação de nova geração de painéis de genes em doentes com cancro da tiróide não-medular familiar
nº CI-IPOP-55-2017
Researcher
2016 - 2019 Predisposição hereditária para cancro da próstata: identificação da heritabilidade por descobrir combinando análises de sequenciação de exomas e de haplótipo numa população com fortes efeitos fundadores
PTDC/DTP-PIC/1308/2014
Researcher
2011/01/01 - 2013/12/31 Projecto Estratégico - UI 776 - 2011-2012
PEst-OE/SAU/UI0776/2011
Instituto Português de Oncologia do Porto Francisco Gentil EPE, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2007 - 2007 Pesquisa de mutações germinativas no gene TP53 em famílias com suspeita de Síndrome de Li-Fraumeni
n.º 18/2007 Ministério da Saúde
Principal investigator
2001 - 2002 Pesquisa de mutações no gene hMSH6 em jovens com cancro colo-rectal
n.º 234/01 Ministério da saúde
Principal investigator
Outputs

Publications

Conference poster
  1. Pinto, Carla. "Prevalence of BRCA1 and BRCA2 large rearrangements in Portuguese ovarian cancer patients". Paper presented in 8º Curso Avançado Ginecologia Oncológica, 2023.
  2. Pinto, Carla. "Detection of the BRCA2 c.156_157insAlu rearrangement in FFPE tumor samples". Paper presented in 5th Breast Cancer Weekend, 2023.
  3. Pinto, Carla. "Identification and characterization of two BRCA intragenic duplications". Paper presented in 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2018.
  4. Pinto, Carla. "POLE somatic mutations in advanced colorectal cancer". Paper presented in Translating colorectal cancer research Workshop, 2017.
  5. Pinto, Carla. "The MSH2 nonsense mutation c.2152C>T shows a founder effect in Portuguese Lynch syndrome families". Paper presented in Translating colorectal cancer research Workshop, 2017.
  6. Pinto, Carla. "Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation". Paper presented in Translating colorectal cancer research Workshop, 2017.
  7. Pinto, Carla. "Optimization of RAS mutational status screening in mCRC patients". Paper presented in Translating colorectal cancer research Workshop, 2017.
  8. Pinto, Carla. "KIT and PDGFRA molecular characterization in Portuguese patients with GIST". Paper presented in Translating colorectal cancer research Workshop, 2017.
  9. Pinto, Carla. "Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression". Paper presented in Translating colorectal cancer research Workshop, 2017.
  10. Pinto, Carla. "POLE somatic mutations in advanced colorectal cancer". Paper presented in 2nd ASPIC internacional congress, 2016.
  11. Pinto, Carla. "Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation". Paper presented in 2nd ASPIC internacional congress, 2016.
  12. Pinto, Carla. "Prevalence of germline TP53 mutations in early-onset HER2-positive breast cancer". Paper presented in 2nd ASPIC internacional congress, 2016.
  13. Pinto, Carla. "Analysis of ovarian carcinomas for somatic and germline BRCA1/2 mutations by Next Generation Sequencing". Paper presented in 19ª Reunião da Sociedade Portuguesa de Genética Humana, 2015.
  14. Pinto, Carla. "Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumor location and germline mutation". Paper presented in 19ª Reunião da Sociedade Portuguesa de Genética Humana, 2015.
  15. Pinto, Carla. "The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry". Paper presented in 18.ª Reunião da Sociedade Portuguesa de Genética Humana, 2014.
  16. Pinto, Carla. "Identification of previously unrecognized familial adenomatosis polyposis in children with desmoid tumors". Paper presented in Hereditary and Familial Cancer In The Personal Genomics Era, IV Annual IMPPC Conference/1st ICO-IDIBELL Hereditary Cancer Meeting, 2013.
  17. Pinto, Carla. "The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families". Paper presented in Hereditary and Familial Cancer In The Personal Genomics Era, IV Annual IMPPC Conference/1st ICO-IDIBELL Hereditary Cancer Meeting, 2013.
  18. Pinto, Carla. "Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene". Paper presented in Hereditary and Familial Cancer In The Personal Genomics Era, IV Annual IMPPC Conference/1st ICO-IDIBELL Hereditary Cancer Meeting, 2013.
  19. Pinto, Carla. "Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families". Paper presented in Hereditary and Familial Cancer In The Personal Genomics Era, IV Annual IMPPC Conference/1st ICO-IDIBELL Hereditary Cancer Meeting, 2013.
  20. Pinto, Carla. "Identification of previously unrecognized familial adenomatosis polyposis in children with desmoid tumors". Paper presented in 16ª Reunião da Sociedade Portuguesa de Genética Humana, 2012.
  21. Pinto, Carla. "Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene". Paper presented in 16ª Reunião da Sociedade Portuguesa de Genética Humana, 2012.
  22. Pinto, Carla. "Mutações do EGFR – frequência e caracterização da população". Paper presented in 4º Congresso Português do Cancro do Pulmão, 2010.
  23. Pinto, Carla. "Análise mutacional dos genes KRAS, BRAF e PI3KCA em carcinoma colo-rectal metastático". Paper presented in Jornadas de Oncologia, 2010.
  24. Pinto, Carla. "Síndrome de von Hippel-Lindau em famílias portuguesas". Paper presented in XIII Jornadas de Oncologia Médica, 2009.
  25. Pinto, Carla. "Análise mutacional do gene KRAS como biomarcador preditivo de resposta à terapia dirigida ao EGFR no carcinoma colo-rectal". Paper presented in XIII Jornadas de Oncologia Médica, 2009.
  26. Pinto, Carla. "Padrão de mutações germinativas no gene APC em famílias portuguesas com diagnóstico clínico de polipose adenomatosa familiar". Paper presented in XIII Jornadas de Oncologia Médica, 2009.
  27. Pinheiro, Manuela; Veiga, Isabel; Pinto, Carla; et al. "Alterações no genoma nuclear e mitocondrial em carcinoma do recto e do sigmóide". Paper presented in IV Simpósio Nacional de Cancro Digestivos, 2008.
  28. Pinto, Carla. "Diagnóstico Genético de famílias portuguesas com Síndrome de Lynch". Paper presented in III Simpósio Nacional de Cancro Digestivo, 2007.
  29. Pinto, Carla. "Estudo Molecular do gene TP53 em famílias portuguesas com suspeita de Síndrome de Li-Fraumeni". Paper presented in XII Jornadas de Oncologia Médica, 2007.
  30. Pinto, Carla. "Pesquisa de mutações nos genes KIT e PDGFRA em GIST". Paper presented in XII Jornadas de Oncologia Médica, 2007.
  31. Pinto, Carla. "Caracterização de oncogenes de fusão envolvendo o gene MLL em doentes com leucemia aguda". Paper presented in XII Jornadas de Oncologia Médica, 2007.
  32. Pinto, Carla. "Molecular Screening of portuguese hereditary non-polyposis colorectal cancer (HNPCC) families". Paper presented in Familial Cancer, 2006.
  33. Pinto, Carla. "CGH evaluation of two de novo synchronous tumors in a child with a germline P53 mutation". Paper presented in 5th European Cytogenetics Conference, 2005.
  34. Pinto, Carla. "Detecção de delecções/duplicações genómicas por MLPA em famílias com Predisposição Hereditária para cancro". Paper presented in Encontros da Primavera de Oncologia, 2005.
  35. Pinto, Carla. "Sindroma de lynch – Estratégia de estudo numa consulta de cirurgia geral". Paper presented in XXV Congresso Nacional de Cirurgia, 2005.
  36. Pinto, Carla. "Detecção de delecções/duplicações genómicas por MLPA em famílias com Predisposição Hereditária para cancro". Paper presented in 8ª Reunião da Sociedade Portuguesa de Genética Humana, 2004.
  37. Pinto, Carla. "hMSH6 germline mutations in early-onset colorectal cancer patients with negative family history". Paper presented in XIII Porto Cancer Meeting, 2004.
  38. Pinto, Carla. "Estudo Molecular do gene TP53 em famílias portuguesas com diagnóstico clínico de Síndrome Li-Fraumeni". Paper presented in IV Jornadas Oncológicas, 2003.
  39. Pinto, Carla. "Estudo Molecular do gene APC em famílias portuguesas com diagnóstico clínico de Polipose Adenomatosa Familiar". Paper presented in IV Jornadas Oncológicas, 2003.
  40. Pinto, Carla. "Study of molecular resistance to chemotherapy in ovarian cancer". Paper presented in 8th European Workshop on Cytogenetics and Molecular Genetics of Human Solid Tumours, 2002.
  41. Pinto, Carla. "Identificação de mutações no gene da dihidropirimidina desidrogenase – implicações no tratamento com 5-Fluorouracilo". Paper presented in 5ª Reunião da Sociedade Portuguesa de Genética Humana, 2001.
  42. Pinto, Carla. "Screening for beta tubulin gene mutations and microsatellite instability in serous and clear cell ovarian carcinomas". Paper presented in ECCO 11 - The Eurpean Cancer Conference, 2001.
  43. Pinto, Carla. "Molecular pathways of carcinogenesis in early onset colorectal cancer". Paper presented in 27th Meeting of the Federation of European Biochemical Societies, 2001.
Journal article
  1. Pinto, Emilia M.; Fridman, Cintia; Figueiredo, Bonald C.; Salvador, Hector; Teixeira, Manuel R.; Pinto, Carla; Pinheiro, Manuela; et al. "Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility". Human Genetics and Genomics Advances 5 1 (2024): 100244. http://dx.doi.org/10.1016/j.xhgg.2023.100244.
    10.1016/j.xhgg.2023.100244
  2. Moreira, Inês; Ferreira, Marta; Garcia, Sofia; Novais, Pedro; Gama, João; Ferro, Beatriz; Leite-Silva, Pedro; et al. "Practical lessons learned from real-world implementation of the molecular classification for endometrial carcinoma". Gynecologic Oncology 176 (2023): 53-61. http://dx.doi.org/10.1016/j.ygyno.2023.07.005.
    10.1016/j.ygyno.2023.07.005
  3. Pinto, Carla. "Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome". (2023):
  4. Guerra, Joana; Pinto, Carla; Pinto, Pedro; Pinheiro, Manuela; Santos, Catarina; Peixoto, Ana; Escudeiro, Carla; et al. "Frequency of CDH1, CTNNA1 and CTNND1 Germline Variants in Families with Diffuse and Mixed Gastric Cancer". Cancers 15 17 (2023): 4313. http://dx.doi.org/10.3390/cancers15174313.
    10.3390/cancers15174313
  5. Pinheiro, Manuela; Peixoto, Ana; Rocha, Patrícia; Santos, Catarina; Escudeiro, Carla; Veiga, Isabel; Porto, Miguel; et al. "Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patients". Pharmacogenetics and Genomics (2023): http://dx.doi.org/10.1097/fpc.0000000000000505.
    10.1097/fpc.0000000000000505
  6. Paulo, Paula; Cardoso, Marta; Brandão, Andreia; Pinto, Pedro; Falconi, Ariane; Pinheiro, Manuela; Cerveira, Nuno; et al. "Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients". Genes, Chromosomes and Cancer (2023): http://dx.doi.org/10.1002/gcc.23190.
    10.1002/gcc.23190
  7. Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; et al. "Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes". The Lancet Oncology 24 1 (2023): 91-106. http://dx.doi.org/10.1016/s1470-2045(22)00643-x.
    10.1016/s1470-2045(22)00643-x
  8. Pinheiro, Manuela; Peixoto, Ana; Rocha, Patricia; Veiga, Isabel; Pinto, Carla; Santos, Catarina; Pinto, Pedro; et al. "KRAS and NRAS mutational analysis in plasma ctDNA from patients with metastatic colorectal cancer by real-time PCR and digital PCR". International Journal of Colorectal Disease 37 4 (2022): 895-905. http://dx.doi.org/10.1007/s00384-022-04126-6.
    10.1007/s00384-022-04126-6
  9. Custódio, Noélia; Savisaar, Rosina; Carvalho, Célia; Bak-Gordon, Pedro; Ribeiro, Maria I.; Tavares, Joana; Nunes, Paula B.; et al. "Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes". Biomedicines 10 2 (2022): 199. http://dx.doi.org/10.3390/biomedicines10020199.
    10.3390/biomedicines10020199
  10. Barbosa, Ana; Pinto, Pedro; Peixoto, Ana; Guerra, Joana; Pinheiro, Manuela; Santos, Catarina; Pinto, Carla; et al. "Next Generation Sequencing of Tumor and Matched Plasma Samples: Identification of Somatic Variants in ctDNA From Ovarian Cancer Patients". Frontiers in Oncology 11 (2021): http://dx.doi.org/10.3389/fonc.2021.754094.
    10.3389/fonc.2021.754094
  11. Escudeiro, Carla; Pinto, Carla; Vieira, Joana; Peixoto, Ana; Pinto, Pedro; Pinheiro, Manuela; Santos, Catarina; et al. "The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer". Familial Cancer 20 3 (2020): 173-180. http://dx.doi.org/10.1007/s10689-020-00212-2.
    10.1007/s10689-020-00212-2
  12. Manuela Pinheiro; Ana Peixoto; Catarina Santos; Carla Escudeiro; Susana Bizarro; Pedro Pinto; Rui Santos; et al. "Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation". Cancer Genetics 248-249 (2020): 18-24. https://doi.org/10.1016/j.cancergen.2020.09.001.
    10.1016/j.cancergen.2020.09.001
  13. Ana Barbosa; Pedro Pinto; Ana Peixoto; Joana Guerra; Carla Pinto; Catarina Santos; Manuela Pinheiro; et al. "Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2". Cancers 12 10 (2020): 2834-2834. https://doi.org/10.3390/cancers12102834.
    10.3390/cancers12102834
  14. Lobo, J.; Pinto, C.; Pinheiro, M.; Lobo, F.; Sousa, N.; Lopes, P.; Looijenga, L.H.J.; et al. "Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss". Histopathology 76 3 (2020): 486-489. http://www.scopus.com/inward/record.url?eid=2-s2.0-85073749849&partnerID=MN8TOARS.
    10.1111/his.13979
  15. Pinheiro, M.; Francisco, I.; Pinto, C.; Peixoto, A.; Veiga, I.; Filipe, B.; Santos, C.; et al. "The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families". Genes Chromosomes and Cancer 58 9 (2019): 657-664. http://www.scopus.com/inward/record.url?eid=2-s2.0-85065014893&partnerID=MN8TOARS.
    10.1002/gcc.22759
  16. Pinto, D.; Pinto, C.; Guerra, J.; Pinheiro, M.; Santos, R.; Vedeld, H.M.; Yohannes, Z.; et al. "Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation". Cancer Medicine (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85040657087&partnerID=MN8TOARS.
    10.1002/cam4.1285
  17. Schneider, N.B.; Pastor, T.; de Paula, A.E.; Achatz, M.I.; Santos, Â.R.D.; Vianna, F.S.L.; Rosset, C.; et al. "Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome". Cancer Medicine 7 5 (2018): 2078-2088. http://www.scopus.com/inward/record.url?eid=2-s2.0-85044468976&partnerID=MN8TOARS.
    10.1002/cam4.1316
  18. Paulo, P.; Maia, S.; Pinto, C.; Pinto, P.; Monteiro, A.; Peixoto, A.; Teixeira, M.R.. "Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer". PLoS Genetics 14 4 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85046415026&partnerID=MN8TOARS.
    10.1371/journal.pgen.1007355
  19. Lobo, J.; Pinto, C.; Freitas, M.; Pinheiro, M.; Vizcaino, R.; Oliva, E.; Teixeira, M.R.; Jerónimo, C.; Bartosch, C.. "Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?". Virchows Archiv 470 3 (2017): 347-352. http://www.scopus.com/inward/record.url?eid=2-s2.0-85000893294&partnerID=MN8TOARS.
    10.1007/s00428-016-2052-4
  20. Sahasrabudhe, R.; Lott, P.; Bohorquez, M.; Toal, T.; Estrada, A.P.; Suarez, J.J.; Brea-Fernández, A.; et al. "Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer". Gastroenterology 152 5 (2017): 983-986.e6. http://www.scopus.com/inward/record.url?eid=2-s2.0-85016201532&partnerID=MN8TOARS.
    10.1053/j.gastro.2016.12.010
  21. Guerra, J.; Pinto, C.; Pinto, D.; Pinheiro, M.; Silva, R.; Peixoto, A.; Rocha, P.; et al. "POLE somatic mutations in advanced colorectal cancer". Cancer Medicine 6 12 (2017): 2966-2971. http://www.scopus.com/inward/record.url?eid=2-s2.0-85032304954&partnerID=MN8TOARS.
    10.1002/cam4.1245
  22. Cabreira, V.; Pinto, C.; Pinheiro, M.; Lopes, P.; Peixoto, A.; Santos, C.; Veiga, I.; et al. "Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression". Familial Cancer 16 1 (2017): 73-81. http://www.scopus.com/inward/record.url?eid=2-s2.0-84984791464&partnerID=MN8TOARS.
    10.1007/s10689-016-9926-0
  23. Paulo, P.; Pinto, P.; Peixoto, A.; Santos, C.; Pinto, C.; Rocha, P.; Veiga, I.; et al. "Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes". Journal of Molecular Diagnostics 19 4 (2017): 502-513. http://www.scopus.com/inward/record.url?eid=2-s2.0-85021295082&partnerID=MN8TOARS.
    10.1016/j.jmoldx.2017.05.001
  24. Maia, S.; Cardoso, M.; Paulo, P.; Pinheiro, M.; Pinto, P.; Santos, C.; Pinto, C.; et al. "The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer". Familial Cancer 15 1 (2016): 111-121. http://www.scopus.com/inward/record.url?eid=2-s2.0-84952865189&partnerID=MN8TOARS.
    10.1007/s10689-015-9832-x
  25. Pinto, C.; Pinheiro, M.; Peixoto, A.; Santos, C.; Veiga, I.; Rocha, P.; Pinto, P.; et al. "Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal". Journal of Human Genetics 61 2 (2016): 151-156. http://www.scopus.com/inward/record.url?eid=2-s2.0-84959281354&partnerID=MN8TOARS.
    10.1038/jhg.2015.124
  26. Bartosch, C.; Pires-Luís, A.S.; Meireles, C.; Baptista, M.; Gouveia, A.; Pinto, C.; Shannon, K.M.; et al. "Pathologic Findings in Prophylactic and Nonprophylactic Hysterectomy Specimens of Patients with Lynch Syndrome". American Journal of Surgical Pathology 40 9 (2016): 1177-1191. http://www.scopus.com/inward/record.url?eid=2-s2.0-84976330403&partnerID=MN8TOARS.
    10.1097/PAS.0000000000000684
  27. Pinto, P.; Peixoto, A.; Santos, C.; Rocha, P.; Pinto, C.; Pinheiro, M.; Leça, L.; et al. "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". PLoS ONE 11 8 (2016): http://www.scopus.com/inward/record.url?eid=2-s2.0-84984839635&partnerID=MN8TOARS.
    10.1371/journal.pone.0161438
  28. Pinto, P.; Paulo, P.; Santos, C.; Rocha, P.; Pinto, C.; Veiga, I.; Pinheiro, M.; Peixoto, A.; Teixeira, M.R.. "Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity". Breast Cancer Research and Treatment 159 2 (2016): 245-256. http://www.scopus.com/inward/record.url?eid=2-s2.0-84983380158&partnerID=MN8TOARS.
    10.1007/s10549-016-3948-z
  29. Pires-Luis, Ana S.; Bartosch, Carla; Meireles, Catarina; Pinto, Carla; Lopes, Jose M.; Shannon, Kristen M.; Teixeira, Manuel R.; Oliva, Esther; José Manuel Lopes. "Hysterectomy Specimens of Patients with Lynch Syndrome: Clinicopathologic Study of 70 Cases". Laboratory Investigation (2016): https://publons.com/publon/14712225/.
  30. Timofeeva, M.N.; Kinnersley, B.; Farrington, S.M.; Whiffin, N.; Palles, C.; Svinti, V.; Lloyd, A.; et al. "Recurrent Coding Sequence Variation Explains only A Small Fraction of the Genetic Architecture of Colorectal Cancer". Scientific Reports 5 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84946593635&partnerID=MN8TOARS.
    10.1038/srep16286
  31. Peixoto, A.; Santos, C.; Pinto, P.; Pinheiro, M.; Rocha, P.; Pinto, C.; Bizarro, S.; et al. "The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry". Clinical Genetics 88 1 (2015): 41-48. http://www.scopus.com/inward/record.url?eid=2-s2.0-84930416198&partnerID=MN8TOARS.
    10.1111/cge.12441
  32. Pinheiro, M.; Pinto, C.; Peixoto, A.; Veiga, I.; Lopes, P.; Henrique, R.; Baldaia, H.; et al. "Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation". British Journal of Cancer 113 4 (2015): 686-692. http://www.scopus.com/inward/record.url?eid=2-s2.0-84939264921&partnerID=MN8TOARS.
    10.1038/bjc.2015.281
  33. Vieira, J.; Pinto, C.; Afonso, M.; Do Bom Sucesso, M.; Lopes, P.; Pinheiro, M.; Veiga, I.; Henrique, R.; Teixeira, M.R.. "Identification of previously unrecognized FAP in children with Gardner fibroma". European Journal of Human Genetics 23 5 (2015): 715-718. http://www.scopus.com/inward/record.url?eid=2-s2.0-84928073639&partnerID=MN8TOARS.
    10.1038/ejhg.2014.144
  34. Santos, C.; Peixoto, A.; Rocha, P.; Pinto, P.; Bizarro, S.; Pinheiro, M.; Pinto, C.; Henrique, R.; Teixeira, M.R.. "Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in portuguese breast/ovarian cancer families". Journal of Molecular Diagnostics 16 3 (2014): 324-334. http://www.scopus.com/inward/record.url?eid=2-s2.0-84898799068&partnerID=MN8TOARS.
    10.1016/j.jmoldx.2014.01.005
  35. Pinheiro, M.; Pinto, C.; Peixoto, A.; Veiga, I.; Mesquita, B.; Henrique, R.; Lopes, P.; et al. "The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families". Clinical Genetics 84 3 (2013): 244-250. http://www.scopus.com/inward/record.url?eid=2-s2.0-84881610774&partnerID=MN8TOARS.
    10.1111/cge.12062
  36. Peixoto, A.; Pinheiro, M.; Massena, L.; Santos, C.; Pinto, P.; Rocha, P.; Pinto, C.; Teixeira, M.R.. "Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene". Journal of Human Genetics 58 2 (2013): 78-83. http://www.scopus.com/inward/record.url?eid=2-s2.0-84875464936&partnerID=MN8TOARS.
    10.1038/jhg.2012.137
  37. Guedes, J.G.; Veiga, I.; Rocha, P.; Pinto, P.; Pinto, C.; Pinheiro, M.; Peixoto, A.; et al. "High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer". BMC Cancer 13 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84875483113&partnerID=MN8TOARS.
    10.1186/1471-2407-13-169
  38. de Mello, R.A.; Pires, F.S.; Marques, D.S.; Oliveira, J.; Rodrigues, A.; Soares, M.; Azevedo, I.; et al. "EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective study.". Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 33 6 (2012): 2061-2068. http://www.scopus.com/inward/record.url?eid=2-s2.0-85027933944&partnerID=MN8TOARS.
    10.1007/s13277-012-0465-5
  39. Pinto, P.; Rocha, P.; Veiga, I.; Guedes, J.; Pinheiro, M.; Peixoto, A.; Pinto, C.; et al. "Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer". Cancer Genetics 204 8 (2011): 439-446. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856399968&partnerID=MN8TOARS.
    10.1016/j.cancergen.2011.07.003
  40. Pinheiro, M.; Pinto, C.; Peixoto, A.; Veiga, I.; Mesquita, B.; Henrique, R.; Baptista, M.; et al. "A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families". Genetics in Medicine 13 10 (2011): 895-902. http://www.scopus.com/inward/record.url?eid=2-s2.0-80053921751&partnerID=MN8TOARS.
    10.1097/GIM.0b013e31821dd525
  41. Silva, M.; Veiga, I.; Ribeiro, F.R.; Vieira, J.; Pinto, C.; Pinheiro, M.; Mesquita, B.; et al. "Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors". BMC Medicine 8 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-77952062243&partnerID=MN8TOARS.
    10.1186/1741-7015-8-26
  42. Pinheiro, M.; Ahlquist, T.; Danielsen, S.A.; Lind, G.E.; Veiga, I.; Pinto, C.; Costa, V.; et al. "Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of origin.". BMC cancer 10 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-77958501860&partnerID=MN8TOARS.
  43. Veiga, I.; Silva, M.; Vieira, J.; Pinto, C.; Pinheiro, M.; Torres, L.; Soares, M.; et al. "Hereditary gastrointestinal stromal tumors sharing the KIT exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways". Genes Chromosomes and Cancer 49 2 (2010): 91-98. http://www.scopus.com/inward/record.url?eid=2-s2.0-75149193619&partnerID=MN8TOARS.
    10.1002/gcc.20720
  44. Pinheiro, M.; Veiga, I.; Pinto, C.; Afonso, L.; Sousa, O.; Fragoso, M.; Santos, L.; et al. "Mitochondrial genome alterations in rectal and sigmoid carcinomas". Cancer Letters 280 1 (2009): 38-43. http://www.scopus.com/inward/record.url?eid=2-s2.0-67349130194&partnerID=MN8TOARS.
    10.1016/j.canlet.2009.02.009
  45. Pinto, C.; Veiga, I.; Pinheiro, M.; Peixoto, A.; Pinto, A.; Lopes, J.M.; Reis, R.M.; et al. "TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset". Familial Cancer 8 4 (2009): 383-390. http://www.scopus.com/inward/record.url?eid=2-s2.0-70449519172&partnerID=MN8TOARS.
    10.1007/s10689-009-9251-y
  46. Cerveira, N.; Correia, C.; Bizarro, S.; Pinto, C.; Lisboa, S.; Mariz, J.M.; Marques, M.; Teixeira, M.R.. "SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23)". Oncogene 25 45 (2006): 6147-6152. http://www.scopus.com/inward/record.url?eid=2-s2.0-33749836689&partnerID=MN8TOARS.
    10.1038/sj.onc.1209626
  47. Roque, L.; Lacerda, A.; Rodrigues, R.; Almeida, O.; Salgueiro, J.; Pinto, C.. "CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation". Pediatric Blood and Cancer 47 7 (2006): 949-954. http://www.scopus.com/inward/record.url?eid=2-s2.0-33750441522&partnerID=MN8TOARS.
    10.1002/pbc.20603
  48. Pinto, C.; Veiga, I.; Pinheiro, M.; Mesquita, B.; Jerónimo, C.; Sousa, O.; Fragoso, M.; et al. "MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease". British Journal of Cancer 95 6 (2006): 752-756. http://www.scopus.com/inward/record.url?eid=2-s2.0-33748565629&partnerID=MN8TOARS.
    10.1038/sj.bjc.6603318
  49. Mesquita, B.; Veiga, I.; Pereira, D.; Tavares, A.; Pinto, I.M.; Pinto, C.; Teixeira, M.R.; Castedo, S.. "No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin". BMC Cancer 5 (2005): http://www.scopus.com/inward/record.url?eid=2-s2.0-26844480242&partnerID=MN8TOARS.
    10.1186/1471-2407-5-101
Thesis / Dissertation
  1. Pinto, Carla. "Pesquisa de mutações no gene hMSH6 em jovens com cancro colo-rectal sem história familiar da doença.". Master, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 2005.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2020/12 Revisiting a case series of glomangiopericytomas: reassessing STAT6 value in differential diagnosis 32nd Congress of the European Society of Pathology and XXXII International Academy of Pathology
2019/03 Inherited predisposition to early-onset HER2-positive breast cancer XI Jornadas Nacionais de Genética e Biotecnologia/I Jornadas de Genética e Biotecnologia Ibéricas
(Vila Real)
2019/03 RAD51C germline variant analysis in families with clinical criteria of Li- Fraumeni syndrome XI Jornadas Nacionais de Genética e Biotecnologia/I Jornadas de Genética e Biotecnologia Ibéricas
(Vila Real)
2018/11 RAS mutational analysis in plasma ctDNA from patients with mCRC 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana
(Porto)
2017 Molecular characterization of Portuguese Lynch syndrome families Translating colorectal cancer research Workshop
(Porto)
2012 The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families 16.ª Reunião da Sociedade Portuguesa de Genética Humana
(Porto)
2011 A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families XV Jornadas de Oncologia Médica
(Espinho)
2010 Comparação de diferentes metodologias para detecção de mutações no gene KRAS em cancro colo-rectal metastático XIV Jornadas de Oncologia Médica
(Espinho)
2007 Pesquisa de mutações nos genes KIT e PDGFRA em GIST III Simpósio Nacional de Cancro Digestivos
(Vila Moura)
2007 Characterization of germline and somatic mutations in a portuguese family with gastrointestinal stromal tumor CTOS 13th Annual Meeting. Seattle
(Seattle, USA)
2002 Estudo da quimio-resistência em carcinomas do ovário IX Congresso Nacional de Oncologia
(Lisboa)
2001 Estudo molecular das vias de carcinogénese em jovens com cancro colo-rectal 9as Jornadas Nacionais de Oncologia Médica
(Espinho)
2001 Pesquisa de mutações da beta tubulina em carcinomas serosos do ovário 9as Jornadas Nacionais de Oncologia Médica
(Espinho)
2001 Identificação de mutações no gene da dihidropirimidina desidrogenase – implicações no tratamento com 5 – fluorouracilo 9as Jornadas Nacionais de Oncologia Médica
(Espinho)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2021 - 2021 Next generation sequencing of a custom gene panel to improve the diagnosis of patients with inherited predisposition to colorectal polyposis.
Co-supervisor
 Mestrado em Técnicas Laboratoriais em Biopatologia
Escola Superior de Saúde do Instituto Politécnico do Porto , Portugal
2018 - 2018 RAD51C germline mutation analysis in families with clinical criteria of Li-Fraumeni syndrome
Co-supervisor
 Mestrado em Oncologia (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2016 - 2016 Inherited predisposition of early-onset HER2-positive breast cancer
Co-supervisor
 Mestrado em Oncologia (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2015 - 2015 POLE somatic mutations in advanced colorectal cancer
Co-supervisor
 Mestrado em Oncologia (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2015 - 2015 The role of MLH1 constitutional methylation in Lynch syndrome
Co-supervisor
 Mestrado em Oncologia (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
Distinctions

Award

2015 Bolsa de investigação GICD Bayer

Other distinction

2001 Prémio BYK