Ipatimup

RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH

Carla Oliveira

Name: Carla Oliveira

E-mail: carlaol@i3s.up.pt

Carla Oliveira

Member of

Researcher of Expression Regulation in Cancer

Temporary of Ipatimup Diagnostics

Short CV

Carla Oliveira, BSc, PhD

2015-present: Group Leader/Principal Investigator (tenure), Expression Regulation in Cancer Group, i3S Porto, PT

2013-present: Group Leader/Principal Investigator (tenure), Ipatimup, Porto, PT

2013-present: Co-founder, Scientific Head and CEO, Bioinf2Bio Bioinformatics Company, Porto, PT

2006-present: Affiliated Professor, Dept. Pathology, Fac. Medicine, Univ. Porto, PT

2005-present: Consultant for gastric-cancer related syndromes, IPATIMUP Diagnostics, Porto, PT

2011-2012: Invited researcher, Max Planck Institute for Developmental Biology, Tubingen, DE (E. Isaurralde Lab)

2008-2012: Junior Group Leader, Ipatimup, Porto, PT (Ciência 2008 – FCT)

2005-2008: Team Leader, Ipatimup, Porto, PT (Agência de Inovação - FCT)

2004-2005: Post-doc Researcher, Univ. British Columbia, Vancouver, CA (D. Huntsman Lab)

2002-2003: Post-doc Researcher, Ipatimup, Porto, PT (R. Seruca Lab) & INSERM, Paris, FR (R. Hamelin Lab)

March-2002: GABBA PhD in Human Biology, Fac. Medicine, Univ. Porto, PT

2001-2002: Visiting Ph.D. student, Ipatimup, PT (R. Seruca Lab)

1999-2000: Ph.D. student, CIMR - Cambridge Institute for Medical Research (C. Caldas Lab), Cambridge Univ., UK

1997-1998: Research Fellowship, Ipatimup-Institute of Molecular Pathology and Immunology UPorto, PT

1991-1996: Biochemistry Degree, Fac. Science and Technology, Univ. Coimbra, PT

H-INDEX = 60 (SCOPUS/ResearcherID) or 62 (GoogleScholar)

PUBLICATIONS: 172 peer-reviewed articles in the fields of Human Genetics and Molecular Oncology

Accumulated Impact Factor > 1.000,00: Citations: >12.000

C. Oliveira is recognized internationally for her work in E-cadherin/CDH1-related diseases and hereditary cancer. She disclosed novel germline causes of Hereditary Gastrointestinal Cancer and defined somatic events in tumours with impact for patient management and therapy.

Her main scientific aim is to disclose the missing heritability in Hereditary Gastric Cancer. For this, her team is exploring the whole genome, with particular emphasis in its noncoding portion. She also aims at finding biomarkers with clinical utility for earlier detection of sporadic and hereditary gastric cancer and to disclose actionable genotype-phenotype relationships in these diseases. The social and economic impact of hereditary cancer is a transversal aspect in her research and she privileges the interaction with Patient’s associations, such as EVITA.

C. Oliveira has been a PI of projects funded with >3.8M€ and team member in projects with equivalent total budget. She independently raised additional 2.5M€ for human resources. She was invited speaker in >120 National and International conferences; she is the Executive Committee Secretary General of the European Society of Human Genetics (ESHG), member of its Scientific Program Committee and vice-coordinator of the Scientific Program Committee of the Portuguese Society of Human Genetics (SPGH); National Coordinators and Representative of the Porto.Comprehensive Cancer Centre (P.CCC) in the European Reference Network ERN-GENTURIS on genetic tumour risk syndromes, and; the head the Hereditary Diffuse Gastric Cancer branch of the SolveRD (Solving Rare diseases) EU-Project. She is a member of the Portuguese Group of Hereditary Tumours (PROGO) promoted by The Portuguese Society of Oncology. She is regular reviewer of National and International fellowship and grant applications. She successfully supervised 15 Masters and 14 PhD students to completion, 11 post-docs and recruited 4 junior project leaders (iFCT) for her team.

C. Oliveira’s group has also gained expertise and visibility in genomics and bioinformatics, due to active participation in international consortia and large European Projects including the European-wide research project SOLVE-RD – Solve Rare diseases; the Consortium GEUVADIS and GTEx; Several COST actions, as well as the Marie Sklodowska-Curie Innovative Training Networks ITN TRAIN-EV. The group has relevant roles in management and executive functions in the GenomePT National Infrastructure for genome sequencing and the 1 Million European Genomes project. Her team is multidisciplinary with strong background in oncobiology and genetics, and supported by technical expertise in molecular and cellular biology, NGS, bioinformatics and a strong link with hospitals and clinical professionals. Her team was recently awarded with the Prize Alfredo da Silva on “Sustentabilidade de sistemas de saúde” for the work on optimized pathways of care in Hereditary cancer syndromes.

Highlights

The “EXPRESSION REGULATION IN CANCER” group aims, in the next three years, to identification cancer-associated expression regulatory mechanisms that impact early diagnosis, prognosis and chemotherapy-induced resistance in cancer.

Specific aims:
1. Identify the molecular basis of familial gastric cancer (HDGC and Familial Intestinal Gastric Cancer - FIGC);
2. Uncover somatic regulation in gastric cancer and its relationship with patients’ prognosis;
3. Optimize tools for early diagnosis of gastric cancer;
4. Uncover mechanisms involved in metastasis and chemotherapy-induced resistance using Epithelial-Mesenchymal-Epithelial transitions (EMT/MET) experimental models;
5. Unravel the role of mRNA mistranslation in human cancer.

Supervisor of

Alexandre Dias, PhD Student
PhD student

Ana Moutinho, Visiting Researcher
Visiting Researcher

Ana Mamede, Bioinformatics technician
Others
Research Technician
Temporary

Ana Pedro, Research Technician
Temporary

Rita Matos, PhD Student

Daniel Ferreira, Junior Researcher
Temporary

Hugo Pinheiro, Others
Temporary

Inês Marques, Master Student (theoretical phase)
MSc student

João Fonseca, Fellow
Research Fellowship (BSc)

João Neto, Research Technician
Research Technician

José Peláez, PhD student
Temporary

Liliana Sousa, PhD Student

Luzia Garrido, Research Technician
Temporary

Mafalda Santos, Collaborator
External Consultant

Marta Freitas, Visiting Researcher
Visiting Researcher

Marta Ferreira, PhD Student
PhD student

Nelson Martins, Fellow
Master Student (thesis)
MSc student
Research Fellowship (MSc)

Sara Pereira, Project Manager
Temporary

Silvana Lobo, PhD Student
PhD student

PI (running)

Solve the Unsolved - Rare Diseases

PI (closed)

3DChroMe: Solving the 3D Chromatin Structure Of CDH1 Locus To Identify Disease-Associated Mechanisms

GenomePT .: National Laboratory for Genome Sequencing and Analysis

Long survival in patients with high-grade serous carcinoma of the ovary: a molecular and clinical study

Tackling cancer stem cells: a challenge and an opportunity to advance in anti-cancer therapy (CANCERSTEM)

Diabetes & obesity at the crossroads between Oncological and Cardiovascular diseases – a system analysis NETwork towards precision medicine (DOCnet)

Mapping genetic and phenotypic heterogeneity in HER2 positive cancers to anticipate and counteract resistance phenotypes.

Tumour secreted factors in EMT/non-EMT cells for invasion and metastization.

A 3D microarray platform for the high-throughput analysis of the role of the extracellular matrix in cancer-associated epithelial-to-mesenchymal transitions

Using NGS to uncover structural and regulatory variation in Gastric Cancer

TUMORTAG - Tumor-targeted nanoparticles for early diagnosis of gastric cancer

New E-cadherin RNAs: the dark side of a tumour suppressor gene

Mutated suppressor tRNAs as a therapeutic tool for cancer associated syndromes: HDGC as a model

Role of novel regulatory mechanisms in the loss of E-cadherin expression

Identification of molecular mechanisms underlying gastric cancer in families positive and negative for E-cadherin germline mutations

First Author

1. Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F

Familial gastric cancer: genetic susceptibility, pathology, and implications for management. The Lancet. Oncology 16: e60-e70, 2015. [Review]

doi: 10.1016/S1470-2045(14)71016-2 PMID: 25638682.

181

26.5

2. Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F

E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Progress in molecular biology and translational science 116: 337-59, 2013. [Review; Book Chapter]

doi: 10.1016/B978-0-12-394311-8.00015-7 PMID: 23481202.

3.1

3. Oliveira C, Seruca R, Hoogerbrugge N, Ligtenberg M, Carneiro F

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC). European journal of human genetics : EJHG 21: ., 2013. [Editorial Material]

doi: 10.1038/ejhg.2012.247 PMID: 23443028.

4.2

4. Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A, Corso G, Schouten J, Fitzgerald R, Vogelsang H, Keller G, Dwerryhouse S, Grimmer D, Chin SF, Yang HK, Jackson CE, Seruca R, Roviello F, Stupka E, Caldas C, Huntsman D

Germline CDH1 deletions in hereditary diffuse gastric cancer families. Human molecular genetics 18: 1545-55, 2009. [Article]

doi: 10.1093/hmg/ddp046 PMID: 19168852.

133

7.4

5. Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carriço R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmão L, Wen X, Cipriano MA, Yokota J, Carneiro F, Huntsman D, Seruca R

Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 136: 2137-48, 2009. [Article]

doi: 10.1053/j.gastro.2009.02.065 PMID: 19269290.

107

12.9

6. Oliveira C, Seruca R, Carneiro F

Hereditary gastric cancer. Best practice & research. Clinical gastroenterology 23: 147-57, 2009. [Article]

doi: 10.1016/j.bpg.2009.02.003 PMID: 19414142.

2.5

7. Oliveira C, Velho S, Moutinho C, Ferreira A, Preto A, Domingo E, Capelinha AF, Duval A, Hamelin R, Machado JC, Schwartz S, Carneiro F, Seruca R

KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. Oncogene 26: 158-63, 2007. [Article]

doi: 10.1038/sj.onc.1209758 PMID: 16953233.

136

6.4

8. Oliveira C, Seruca R, Carneiro F

Genetics, pathology, and clinics of familial gastric cancer. International journal of surgical pathology 14: 21-33, 2006. [Review]

PMID: 16501831.

111

1.0

9. Oliveira C, Velho S, Domingo E, Preto A, Hofstra RM, Hamelin R, Yamamoto H, Seruca R, Schwartz S

Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer. Oncogene 24: 7630-4, 2005. [Article]

doi: 10.1038/sj.onc.1208906 PMID: 16007118.

6.9

10. Oliveira C, Moreira H, Seruca R, de Oliveira MC, Carneiro F

Role of pathology in the identification of hereditary diffuse gastric cancer: report of a Portuguese family. Virchows Archiv : an international journal of pathology 446: 181-4, 2005. [Article]

doi: 10.1007/s00428-004-1156-4 PMID: 15735979.

2.2

11. Oliveira C, Westra JL, Arango D, Ollikainen M, Domingo E, Ferreira A, Velho S, Niessen R, Lagerstedt K, Alhopuro P, Laiho P, Veiga I, Teixeira MR, Ligtenberg M, Kleibeuker JH, Sijmons RH, Plukker JT, Imai K, Lage P, Hamelin R, Albuquerque C, Schwartz S, Lindblom A, Peltomaki P, Yamamoto H, Aaltonen LA, Seruca R, Hofstra RM

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Human molecular genetics 13: 2303-11, 2004. [Article]

doi: 10.1093/hmg/ddh238 PMID: 15294875.

111

7.8

12. Oliveira C, Ferreira P, Nabais S, Campos L, Ferreira A, Cirnes L, Alves CC, Veiga I, Fragoso M, Regateiro F, Dias LM, Moreira H, Suriano G, Machado JC, Lopes C, Castedo S, Carneiro F, Seruca R

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. European journal of cancer (Oxford, England : 1990) 40: 1897-903, 2004. [Article]

doi: 10.1016/j.ejca.2004.04.027 PMID: 15288293.

3.3

13. Oliveira C, de Bruin J, Nabais S, Ligtenberg M, Moutinho C, Nagengast FM, Seruca R, van Krieken H, Carneiro F

Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene 23: 2236-40, 2004. [Article]

doi: 10.1038/sj.onc.1207335 PMID: 14661064.

6.3

14. Oliveira C, Suriano G, Ferreira P, Canedo P, Kaurah P, Mateus R, Ferreira A, Ferreira AC, Oliveira MJ, Figueiredo C, Carneiro F, Keller G, Huntsman D, Machado JC, Seruca R

Genetic screening for familial gastric cancer. Hereditary Cancer in Clinical Practice 2: 51-64, 2004. []

doi: 10.1186/1897-4287-2-2-51 PMID: 20233471.

15. Oliveira C, Pinto M, Duval A, Brennetot C, Domingo E, Espín E, Armengol M, Yamamoto H, Hamelin R, Seruca R, Schwartz S

BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency. Oncogene 22: 9192-6, 2003. [Article]

doi: 10.1038/sj.onc.1207061 PMID: 14668801.

113

6.5

16. Oliveira C, Seruca R, Caldas C

Genetic screening for hereditary diffuse gastric cancer. Expert review of molecular diagnostics 3: 201-15, 2003. [Review]

doi: 10.1586/14737159.3.2.201 PMID: 12647996.

17. Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, Caldas C

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Human mutation 19: 510-7, 2002. [Article]

doi: 10.1002/humu.10068 PMID: 11968083.

119

6.9

18. Oliveira C, Seruca R, Seixas M, Sobrinho-Simões M

The clinicopathological features of gastric carcinomas with microsatellite instability may be mediated by mutations of different "target genes": a study of the TGFbeta RII, IGFII R, and BAX genes. The American journal of pathology 153: 1211-9, 1998. [Article]

PMID: 9777952.

132

Senior Author

1. Matalonga L, Hernández-Ferrer C, Piscia D, Solve-RD SNV-indel working group D, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R, Solve-RD DITF-GENTURIS R, Solve-RD DITF-ITHACA R, Solve-RD DITF-euroNMD R, Solve-RD DITF-RND R, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S, Solve-RD Consortia S

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. European journal of human genetics : EJHG 29: 1337-1347, 2021. [Article]

doi: 10.1038/s41431-021-00852-7 PMID: 34075210.

4.2 (*)

2. Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C

Cancer predisposition and germline CTNNA1 variants. European journal of medical genetics 64: 104316, 2021. [Article]

doi: 10.1016/j.ejmg.2021.104316 PMID: 34425242.

2.7 (*)

3. Rocha S, Basto AP, Ijsselsteijn ME, Teles SP, Azevedo MM, Gonçalves G, Gullo I, Almeida GM, Maqueda JJ, Oliveira MI, Carneiro F, Barata JT, Graça L, de Miranda NFCC, Carvalho J, Oliveira C

Immunophenotype of Gastric Tumors Unveils a Pleiotropic Role of Regulatory T Cells in Tumor Development. Cancers 13: ., 2021. [Article]

doi: 10.3390/cancers13030421 PMID: 33498681.

6.6 (*)

4. Garcia-Pelaez J, Barbosa-Matos R, Gullo I, Carneiro F, Oliveira C

Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges. Molecular oncology 15: 2841-2867, 2021. [Review]

doi: 10.1002/1878-0261.12948 PMID: 33724653.

6.6 (*)

5. Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing. Cancers 13: ., 2021. [Article]

doi: 10.3390/cancers13174464 PMID: 34503274.

6.6 (*)

6. Almeida GM, Pereira C, Park JH, Lemos C, Campelos S, Gullo I, Martins D, Gonçalves G, Leitão D, Neto JL, André A, Borges C, Almeida D, Lee HJ, Kong SH, Kim WH, Carneiro F, Almeida R, Yang HK, Oliveira C

CD44v6 High Membranous Expression Is a Predictive Marker of Therapy Response in Gastric Cancer Patients. Biomedicines 9: ., 2021. [Article]

doi: 10.3390/biomedicines9091249 PMID: 34572441.

6.1 (*)

7. Carvalho J, Oliveira P, Senz J, São José C, Hansford S, Teles SP, Ferreira M, Corso G, Pinheiro H, Lemos D, Pascale V, Roviello F, Huntsman D, Oliveira C

Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives. Journal of medical genetics 58: 1-11, 2021. [Article]

doi: 10.1136/jmedgenet-2019-106346 PMID: 32066632.

6.3 (*)

8. Pereira C, Ferreira D, Mendes N, Granja PL, Almeida GM, Oliveira C

Expression of CD44v6-Containing Isoforms Influences Cisplatin Response in Gastric Cancer Cells. Cancers 12: ., 2020. [Article]

doi: 10.3390/cancers12040858 PMID: 32252293.

6.1 (*)

9. Lobo S, Pereira C, Almeida GM, Oliveira C

Investigating the role of CD44v6 in Gastric Cancer: development of exon v6 skipping models by CRISPR/Cas9 Medicine 99: -, 2020. [Meeting Abstract]

1.6 (*)

10. Jose CS, Monteiro AR, Andre A, Qamra A, Acuna-Hidalgo R, Tan P, Mundlos S, Oliveira C

CDH1 regulatory noncoding elements: a hidden master for tissue-specific E-cadherin expression European journal of human genetics : EJHG 28: 73-74, 2020. [Meeting Abstract]

3.7 (*)

11. Garcia-Pelaez J, Monteiro R, Sousa L, Pinheiro H, Castedo S, Garrido L, Teixeira M, Michils G, Bours V, de Putter R, Golmard L, Blanluet M, Colas C, Benusiglio P, Aretz S, Spier I, Huneburg R, Gieldon L, Schrock E, Holinski-Feder E, Steinke V, Calistri D, Tedaldi G, Ranzani G, Genuardi M, Silveira C, Silva I, Krajc M, Blatnik A, Novakovic S, Patino-Garcia A, Soto J, Lazaro C, Capella G, Brunet-Vidal J, Balmana J, Dominguez-Garrido E, Ligtenberg M, Fewings E, Fitzgerald R, Woodward E, Evans G, Hanson H, Lagerstedt-Robinson K, Bajalica-Lagercrantz S, Egas C, Martinez-Bouzas C, Dahan K, Feret D, Hoogerbrugge N, Tischkowitz M, Oliveira C

The first genotype-phenotype study on European carriers of CDH1 germline mutations European journal of human genetics : EJHG 28: 61-63, 2020. [Meeting Abstract]

3.7 (*)

12. Celina SJ, Ana MR, Aditi Q, Acuna-Hidalgo R, Patrick T, Mundlos S, Carla O

The role of CDH1 regulatory noncoding elements for E-cadherin expression Medicine 99: -, 2020. [Meeting Abstract]

1.6 (*)

13. Garcia-Pelaez J, Monteiro AR, Sousa L, Pinheiro H, Castedo S, Garrido L, Teixeira M, Michils G, Bours V, de Putter R, Golmard L, Blanluet M, Colas C, Benusiglio P, Aretz S, Spier I, Huneburg R, Gieldon L, Schrock E, Holinski-Feder E, Steinke V, Calistri D, Tedaldi G, Ranzani GN, Genuardi M, Silveira C, Silva I, Krajc M, Blatnik A, Novakovic S, Patino-Garcia A, Soto JL, Lazaro C, Capella G, Brunet-Vidal J, Balmana J, Dominguez-Garrido E, Ligtenberg M, Fewings E, Fitzgerald RC, Woodward ER, Evans G, Hanson H, Lagerstedt-Robinson K, Bajalica-Lagercrantz S, Egas C, Tejada MI, Martinez-Bouzas C, Merino S, Carrera S, Garcia-Bercina M, Dahan K, Feret D, Hoogerbrugge N, Tischkowitz M, Oliveira C

The first genotype-phenotype study of European carriers of CDH1 germline mutations Medicine 99: -, 2020. [Meeting Abstract]

1.6 (*)

14. Garrido L, Sousa L, Nercio T, Castro L, Leal R, Costa S, Magalhaes A, Pereira AF, Guimaraes R, Ferro L, Vilarinho L, Gullo I, Pinheiro H, Sousa S, Neto AP, Capela L, Caeiro C, Augusto I, Almeida D, Pinto G, Teixeira C, Devezas V, Macedo G, Fougo JL, Preto J, Barbosa J, Costa-Maia J, Baptista M, Fernandes S, Carneiro F, Castedo S, Oliveira C

A cost-effective model for the pathway of care of CDH1-related hereditary diffuse gastric cancer syndrome (HDGC) European journal of human genetics : EJHG 28: 624-625, 2020. [Meeting Abstract]

3.7 (*)

15. Pereira C, Ferreira M, Oliveira P, Carneiro F, Almeida GM, Oliveira C

The prognostic significance of E-cadherin in Gastric Cancer: an integrative approach based on patients' cohort and CRISPR-Cas9 engineered cell models Medicine 99: -, 2020. [Meeting Abstract]

1.6 (*)

16. Rocha S, Teles SP, Azevedo M, Oliveira P, Carvalho J, Oliveira C

Gastric Cancer Extracellular Vesicles Tune the Migration and Invasion of Epithelial and Mesenchymal Cells in a Histotype-Dependent Manner. International journal of molecular sciences 20: ., 2019. [Article]

doi: 10.3390/ijms20112608 PMID: 31141946.

4.6

17. Garrido L, Nercio T, Leal R, Guimaraes R, Ferro L, Vilarinho L, Costa S, Magalhaes A, Mesquita AS, Pereira AF, Gullo I, Pinheiro H, Sousa S, Carvalho B, Neto AP, Capela L, Teixeira C, Fareleira A, Devezas V, Macedo G, Preto J, Barbosa J, Baptista M, Pinto G, Damasceno M, Fougo JL, Costa-Maia J, Fernandes S, Carneiro F, Castedo S, Oliveira C

Genetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impact European journal of human genetics : EJHG 27: 673-674, 2019. [Meeting Abstract]

3.7

18. Jose CS, Ferro A, Oliveira P, Carvalho J, Pinheiro H, Huntsman D, Acuna-Hidalgo R, Mundlos S, Oliveira C

CDH1 intronic Cis-Regulatory Elements control CDH1 gene tissue-specific expression European journal of human genetics : EJHG 27: 1609-1610, 2019. [Meeting Abstract]

3.7

19. Garrido L, Leal R, Aguiar A, Seixas S, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Magalhaes A, Baptista M, Carneiro F, Castedo S, Oliveira C

The first CDH1 founder mutation in Portugal: Risk assessment and clinical management European journal of human genetics : EJHG 27: 1787-1787, 2019. [Meeting Abstract]

3.7

20. Matos R, Mesquita B, Oliveira P, Valente S, Pinheiro H, Carvalho J, Ferro A, Huntsman D, oliveira C

lntronic cis-regulatory elements regulate CDH1 gene expression and, function Medicine 98: ., 2019. [Meeting Abstract]

1.6

21. Lemos D, Oliveira P, Carvalho J, Jose CS, Oliveira C

Annotator: a novel custom tool for genomic variants annotation and classification European journal of human genetics : EJHG 27: 1033-1033, 2019. [Meeting Abstract]

3.7

22. Pelaez JG, Monteiro A, Sousa L, Castedo S, Michils G, Bours V, de Putter R, Golmard L, Blanluet M, Colas C, Benusiglio P, Aretz S, Spier I, Huneburg R, Gieldon L, Schrock E, Holinski-Feder E, Steinke V, Calistri D, Tedaldi G, Nadia-Ranzani G, Genuardi M, Silveira C, Krajc M, Blatnik A, Novakovic S, Patino-Garcia A, Soto J, Lazaro C, Capella G, Brunet-Vidal J, Balmana J, Dominguez-Garrido E, Ligtenberg M, Fewings E, Fitzgerald R, Woodward E, Evans G, Hanson H, Lagerstedt-Robinson K, Bajalica-Lagercrantz S, Teixeira M, Hoogerbrugge N, Tischkowitz M, Oliveira C

European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC) European journal of human genetics : EJHG 27: 1126-1128, 2019. [Meeting Abstract]

3.7

23. Barbosa-Matos R, Ferro A, Oliveira P, Mesquita B, Andre A, Pinheiro H, Carvalho J, Senz J, Kaurah P, Bordeira-Carrico R, Bessa J, Huntsman D, Oliveira C

Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function European journal of human genetics : EJHG 27: 1131-1132, 2019. [Meeting Abstract]

3.7

24. Lopes-De-Almeida M, Garrido L, Oliveira JP, Castedo S, Oliveira C

The role of medical geneticists in the integrated care offered to patients with hereditary cancer syndromes Medicine 98: 26, 2019. [Meeting Abstract]

1.6

25. Garrido L, Nercio T, Leal R, Guimaraes R, Ferro L, Vilarinho L, Costa S, Magalhaes A, Mesquita AS, Pereira AF, Gullo I, Pinheiro H, Sousa S, Carvalho B, Neto AP, Capela L, Teixeira C, Fareleira A, Devezas V, Macedo G, Preto J, Barbosa J, Baptista M, Pinto G, Damasceno M, Fougo JL, Costa-Maia J, Fernandes S, Carneiro F, Castedo S, Oliveira C

Genetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impact European journal of human genetics : EJHG 27: 864-864, 2019. [Meeting Abstract]

3.7

26. Korsak B, Almeida GM, Rocha S, Pereira C, Mendes N, Osório H, Pereira PMR, Rodrigues JMM, Schneider RJ, Sarmento B, Tomé JPC, Oliveira C

Porphyrin modified trastuzumab improves efficacy of HER2 targeted photodynamic therapy of gastric cancer. International journal of cancer 141: 1478-1489, 2017. [Article]

doi: 10.1002/ijc.30844 PMID: 28639285.

7.4

27. Oliveira P, Carvalho J, Rocha S, Azevedo M, Reis I, Camilo V, Sousa B, Valente S, Paredes J, Almeida R, Huntsman D, Oliveira C

Dies1/VISTA expression loss is a recurrent event in gastric cancer due to epigenetic regulation. Scientific reports 6: 34860, 2016. [Article]

doi: 10.1038/srep34860 PMID: 27721458.

4.3

28. Queirós P, Pinheiro H, Carvalho J, Oliveira P, Gullo I, Carneiro F, Almeida GM, Oliveira C

KRAS mutations in microsatellite instable gastric tumours: impact of targeted treatment and intratumoural heterogeneity. Virchows Archiv : an international journal of pathology 467: 383-92, 2015. [Article]

doi: 10.1007/s00428-015-1823-7 PMID: 26318594.

2.6

29. Pinheiro H, Oliveira P, Oliveira C

Hereditary cancer risk assessment: challenges for the next-gen sequencing era. Frontiers in oncology 5: 62, 2015. [Editorial Material]

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@ 2014 Ipatimup Institute of Molecular Pathology and Immunology of the University of Porto