1. Personal data
Full name: Maria Raquel Campos Seruca
Birth place and date: Porto 09-06-1962
Nationality: Portuguese
Institutional address: Instituto de Patologia e Imunologia da Universidade do Porto- IPATIMUP, 465-4200 Porto, PORTUGAL
Email: rseruca@ipatimup.p
2. Academic degrees
1995; PhD in Medicine, Faculdade de Medicina; Universidade do Porto
1986; Degree in Medicine, Faculdade de Medicina, Universidade do Porto
3. Previous and current scientific and/or professional activities
1999-to date; leader of Cancer Genetics group at IPATIMUP
2000-to date; Affiliated professor of Biopathology, Faculty of Medicine, University of Porto
1995-1998; post-Doc, IPATIMUP and Department of Medical Genetics, University of Groningen, Holand
4. Area of scientific activity
Oncobiology, Cancer Genetics
Responsible for the genetic analysis of families with excess of gastric and colon cancer.
Full member of the International Gastric Cancer Linkage Consortium.
Participates in collaborative studies on methodological, genetic and clinical aspects of mismatch repair defects in HNPCC related cancers.
Genetics and associated cellular effects and signalling pathways involved in the progression of gastric and breast cancer, namely in invasion.
5. Other activities
Responsible for several post-graduated courses at IPATIMUP and supervision of Master and PhD students.
Evaluator of PhD and post-Doc grants for the Portuguese Foundation for Science and Technology.
International Evaluator of European projects within the FP7 and Marie Curie grants within the FP7.
Member of Scientific Committee of the European Society of Human Genetics.
Member of the Scientific Committee of the Gulbenkian Programe in collaboration with Champalimaud Foundation for Advanced Medical Training
Member of the steering commitee of the “International Gastric Cancer Linkage Consortium.
Member of the external Scientific Committee of the Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Barcelona, Spain
Member of the Consulting Committee for Health of the Portuguese Foundation for Science and Technology.
6. Participation in research projects
Raquel Seruca has been PI of several projects funded by Portuguese Foundation for Science and Technology Further Raquel Seruca is a working package leader of a FP6 project funded by EU.
7. Publications
Raquel Seruca has 143 peer-review manuscripts and a H-index of 33.
1. Helicobacter pylori Infection Induces Genetic Instability of Nuclear and Mitochondrial DNA in Gastric Cells. Machado AM, Figueiredo C, Touati E, Máximo V, Sousa S, Michel V, Carneiro F, Nielsen FC, Seruca R, Rasmussen LJ. Clin Cancer Res. 2009 Apr 21.
2. Luteolin, quercetin and ursolic acid are potent inhibitors of proliferation and inducers of apoptosis in both KRAS and BRAF mutated human colorectal cancer cells.Xavier CP, Lima CF, Preto A, Seruca R, Fernandes-Ferreira M, Pereira-Wilson C. Cancer Lett. 2009 Apr 1.
3. Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression. Oliveira C, Sousa S, Pinheiro H, Karam R, Carriço R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmão L, Xiaogang W, Yokota J, Carneiro F, Huntsman D, Seruca R. Gastroenterology. 2009 Mar 6.
4. E-cadherin mutations and cell motility: a genotype-phenotype correlation.Mateus AR, Simões-Correia J, Figueiredo J, Heindl S, Alves CC, Suriano G, Luber B, Seruca R. Exp Cell Res. 2009 May 1;315(8):1393-402. Epub 2009 Mar 4.
5. Unmasking the role of KRAS and BRAF pathways in MSI colorectal tumors. Seruca R, Velho S, Oliveira C, Leite M, Matos P, Jordan P. Expert Rev Gastroenterol Hepatol. 2009 Feb;3(1):5-9. No abstract available.
6. Analysis of microsatellite instability in medulloblastoma. Viana-Pereira M, Almeida I, Sousa S, Mahler-Araújo B, Seruca R, Pimentel J, Reis RM. Neuro Oncol. 2009 Jan 29
7. Germline CDH1 deletions in hereditary diffuse gastric cancer families. 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. Hum Mol Genet. 2009 May 1;18(9):1545-55. Epub 2009 Jan 24.
8. Evidence of tumor microsatellite instability in gastric cancer with familial aggregation. Pedrazzani C, Corso G, Velho S, Leite M, Pascale V, Bettarini F, Marrelli D, Seruca R, Roviello F. Fam Cancer. 2009 Jan 17.
9. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. van Krieken JH, Jung A, Kirchner T, Carneiro F, Seruca R, Bosman FT, Quirke P, Fléjou JF, Hansen TP, de Hertogh G, Jares P, Langner C, Hoefler G, Ligtenberg M, Tiniakos D, Tejpar S, Bevilacqua G, Ensari A. Virchows Arch. 2009 Feb;454(2):233-5. No abstract available.
10. KRAS mutations and anti-epidermal growth factor receptor therapy in colorectal cancer with lymph node metastases. Velho S, Oliveira C, Seruca R. J Clin Oncol. 2009 Jan 1;27(1):158-9; author reply 159. Epub 2008 Dec 1. No abstract available.
11. Molecular targets and biological modifiers in gastric cancer. Carneiro F, Oliveira C, Leite M, Seruca R. Semin Diagn Pathol. 2008 Nov;25(4):274-87. Review.
12. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program.van Krieken JH, Jung A, Kirchner T, Carneiro F, Seruca R, Bosman FT, Quirke P, Fléjou JF, Plato Hansen T, de Hertogh G, Jares P, Langner C, Hoefler G, Ligtenberg M, Tiniakos D, Tejpar S, Bevilacqua G, Ensari A. Virchows Arch. 2008 Nov;453(5):417-31. Epub 2008 Sep 18. Review.
13. BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis? Velho S, Moutinho C, Cirnes L, Albuquerque C, Hamelin R, Schmitt F, Carneiro F, Oliveira C, Seruca R. BMC Cancer. 2008 Sep 9;8:255.
14. Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer. Simões-Correia J, Figueiredo J, Oliveira C, van Hengel J, Seruca R, van Roy F, Suriano G.Hum Mol Genet. 2008 Nov 15;17(22):3566-76. Epub 2008 Sep 4.
15. Tumor necrosis factor alpha extended haplotypes and risk of gastric carcinoma.Canedo P, Durães C, Pereira F, Regalo G, Lunet N, Barros H, Carneiro F, Seruca R, Rocha J, Machado JC.Cancer Epidemiol Biomarkers Prev. 2008 Sep;17(9):2416-20.
16. B-Raf(V600E) cooperates with alternative spliced Rac1b to sustain colorectal cancer cell survival. Matos P, Oliveira C, Velho S, Gonçalves V, da Costa LT, Moyer MP, Seruca R, Jordan P.Gastroenterology. 2008 Sep;135(3):899-906. Epub 2008 May 22.
17. The interferon gamma receptor 1 (IFNGR1) -56C/T gene polymorphism is associated with increased risk of early gastric carcinoma. Canedo P, Corso G, Pereira F, Lunet N, Suriano G, Figueiredo C, Pedrazzani C, Moreira H, Barros H, Carneiro F, Seruca R, Roviello F, Machado JC.Gut. 2008 Nov;57(11):1504-8. Epub 2008 Jul 1.
18. The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. Karam R, Carvalho J, Bruno I, Graziadio C, Senz J, Huntsman D, Carneiro F, Seruca R, Wilkinson MF, Oliveira C.Oncogene. 2008 Jul 10;27(30):4255-60. Epub 2008 Apr 21.
19. Gastric cancer in Europe.European Union Network of Excellence (EUNE) for Gastric Cancer Steering Group. Br J Surg. 2008 Apr;95(4):406-8. No abstract available.
20. Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype. Pinto M, Wu Y, Mensink RG, Cirnes L, Seruca R, Hofstra RM. Cancer Genet Cytogenet. 2008 Jan 15;180(2):110-4.
21. Epidermal growth factor receptor structural alterations in gastric cancer. Moutinho C, Mateus AR, Milanezi F, Carneiro F, Seruca R, Suriano G.BMC Cancer. 2008 Jan 16;8:10.
22. High incidence of familial gastric cancer in Tuscany, a region in Italy. Roviello F, Corso G, Pedrazzani C, Marrelli D, De Falco G, Suriano G, Vindigni C, Berardi A, Garosi L, De Stefano A, Leoncini L, Seruca R, Pinto E. Oncology. 2007;72(3-4):243-7. Epub 2008 Jan 10.
23. BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations. Preto A, Figueiredo J, Velho S, Ribeiro AS, Soares P, Oliveira C, Seruca R. J Pathol. 2008 Feb;214(3):320-7.
24. The interleukin-8-251*T/*A polymorphism is not associated with risk for gastric carcinoma development in a Portuguese population. Canedo P, Castanheira-Vale AJ, Lunet N, Pereira F, Figueiredo C, Gioia-Patricola L, Canzian F, Moreira H, Suriano G, Barros H, Carneiro F, Seruca R, Machado JC. Eur J Cancer Prev. 2008 Feb;17(1):28-32.
25. Specific clinical and biological features characterize inflammatory bowel disease associated colorectal cancers showing microsatellite instability.Svrcek M, El-Bchiri J, Chalastanis A, Capel E, Dumont S, Buhard O, Oliveira C, Seruca R, Bossard C, Mosnier JF, Berger F, Leteurtre E, Lavergne-Slove A, Chenard MP, Hamelin R, Cosnes J, Beaugerie L, Tiret E, Duval A, Fléjou JF. J Clin Oncol. 2007 Sep 20;25(27):4231-8.
26. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model. Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM. Hum Mol Genet. 2007 Sep 15;16(18):2209-14. Epub 2007 Jul 5.
27. Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. Carneiro F, Oliveira C, Suriano G, Seruca R. J Clin Pathol. 2008 Jan;61(1):25-30. Epub 2007 May 18. Review.
28. EGFR regulates RhoA-GTP dependent cell motility in E-cadherin mutant cells. Mateus AR, Seruca R, Machado JC, Keller G, Oliveira MJ, Suriano G, Luber B. Hum Mol Genet. 2007 Jul 1;16(13):1639-47. Epub 2007 May 17.
29. A subset of colorectal carcinomas express c-KIT protein independently of BRAF and/or KRAS activation. Preto A, Moutinho C, Velho S, Oliveira C, Rebocho AP, Figueiredo J, Soares P, Lopes JM, Seruca R. Virchows Arch. 2007 Jun;450(6):619-26. Epub 2007 May 9.
30. Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management. Corso G, Roviello F, Paredes J, Pedrazzani C, Novais M, Correia J, Marrelli D, Cirnes L, Seruca R, Oliveira C, Suriano G. Eur J Surg Oncol. 2007 Nov;33(9):1061-7. Epub 2007 Apr 16.
31. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. More H, Humar B, Weber W, Ward R, Christian A, Lintott C, Graziano F, Ruzzo AM, Acosta E, Boman B, Harlan M, Ferreira P, Seruca R, Suriano G, Guilford P. Hum Mutat. 2007 Feb;28(2):203.
32. Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Seixas S, Suriano G, Carvalho F, Seruca R, Rocha J, Di Rienzo A. Mol Biol Evol. 2007 Feb;24(2):587-98. Epub 2006 Nov 29.
33. Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Roviello F, Corso G, Pedrazzani C, Marrelli D, De Falco G, Berardi A, Garosi L, Suriano G, Vindigni C, De Stefano A, Leoncini L, Seruca R, Pinto E. Eur J Surg Oncol. 2007 May;33(4):448-51. Epub 2006 Nov 28.
34. Helicobacter pylori induces gastric epithelial cell invasion in a c-Met and type IV secretion system-dependent manner. Oliveira MJ, Costa AC, Costa AM, Henriques L, Suriano G, Atherton JC, Machado JC, Carneiro F, Seruca R, Mareel M, Leroy A, Figueiredo C. J Biol Chem. 2006 Nov 17;281(46):34888-96. Epub 2006 Sep 21.
35. C/EBPbeta is over-expressed in gastric carcinogenesis and is associated with COX-2 expression. Regalo G, Canedo P, Suriano G, Resende C, Campos ML, Oliveira MJ, Figueiredo C, Rodrigues-Pereira P, Blin N, Seruca R, Carneiro F, Machado JC. J Pathol. 2006 Dec;210(4):398-404.
36. KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. Oliveira C, Velho S, Moutinho C, Ferreira A, Preto A, Domingo E, Capelinha AF, Duval A, Hamelin R, Machado JC, Schwartz S Jr, Carneiro F, Seruca R. Oncogene. 2007 Jan 4;26(1):158-63. Epub 2006 Sep 4.
37. A model to infer the pathogenic significance of CDH1 germline missense variants.Suriano G, Seixas S, Rocha J, Seruca R. J Mol Med. 2006 Dec;84(12):1023-31. Epub 2006 Aug 16.
38. Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells. Alazzouzi H, Suriano G, Guerra A, Plaja A, Espín E, Armengol M, Alhopuro P, Velho S, Shinomura Y, González-Aguilera JJ, Yamamoto H, Aaltonen LA, Moreno V, Capellà G, Peinado MA, Seruca R, Arango D, Schwartz S Jr.J Med Genet. 2007 Jan;44(1):75-80. Epub 2006 Jul 6.
39. High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability. Davalos V, Dopeso H, Velho S, Ferreira AM, Cirnes L, Díaz-Chico N, Bilbao C, Ramírez R, Rodríguez G, Falcón O, León L, Niessen RC, Keller G, Dallenbach-Hellweg G, Espín E, Armengol M, Plaja A, Perucho M, Imai K, Yamamoto H, Gebert JF, Díaz-Chico JC, Hofstra RM, Woerner SM, Seruca R, Schwartz S Jr, Arango D. Oncogene. 2007 Jan 11;26(2):308-11. Epub 2006 Jul 3.
40. Genetics of hereditary diffuse gastric cancer: progress and future challenges.Suriano G, Ferreira P, Mateus AR, Correia J, Henriques L, Seruca R. Future Oncol. 2006 Jun;2(3):363-70. Review.
41. E-cadherin missense mutations, associated with hereditary diffuse gastric cancer (HDGC) syndrome, display distinct invasive behaviors and genetic interactions with the Wnt and Notch pathways in Drosophila epithelia.Pereira PS, Teixeira A, Pinho S, Ferreira P, Fernandes J, Oliveira C, Seruca R, Suriano G, Casares F.Hum Mol Genet. 2006 May 15;15(10):1704-12. Epub 2006 Apr 6.
42. H-RAS 81 polymorphism is significantly associated with aneuploidy in follicular tumors of the thyroid.Castro P, Soares P, Gusmão L, Seruca R, Sobrinho-Simões M.Oncogene. 2006 Aug 3;25(33):4620-7. Epub 2006 Mar 13.
43. Genetics, pathology, and clinics of familial gastric cancer. Oliveira C, Seruca R, Carneiro F.Int J Surg Pathol. 2006 Jan;14(1):21-33. Review.
44. Loss of functional E-cadherin renders cells more resistant to the apoptotic agent taxol in vitro. Ferreira P, Oliveira MJ, Beraldi E, Mateus AR, Nakajima T, Gleave M, Yokota J, Carneiro F, Huntsman D, Seruca R, Suriano G. Exp Cell Res. 2005 Oct 15;310(1):99-104.
45. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.Suriano G, Yew S, Ferreira P, Senz J, Kaurah P, Ford JM, Longacre TA, Norton JA, Chun N, Young S, Oliveira MJ, Macgillivray B, Rao A, Sears D, Jackson CE, Boyd J, Yee C, Deters C, Pai GS, Hammond LS, McGivern BJ, Medgyesy D, Sartz D, Arun B, Oelschlager BK, Upton MP, Neufeld-Kaiser W, Silva OE, Donenberg TR, Kooby DA, Sharma S, Jonsson BA, Gronberg H, Gallinger S, Seruca R, Lynch H, Huntsman DG.Clin Cancer Res. 2005 Aug 1;11(15):5401-9.
46. Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer. Oliveira C, Velho S, Domingo E, Preto A, Hofstra RM, Hamelin R, Yamamoto H, Seruca R, Schwartz S Jr. Oncogene. 2005 Nov 17;24(51):7630-4.
47. The prevalence of PIK3CA mutations in gastric and colon cancer. Velho S, Oliveira C, Ferreira A, Ferreira AC, Suriano G, Schwartz S Jr, Duval A, Carneiro F, Machado JC, Hamelin R, Seruca R. Eur J Cancer. 2005 Jul;41(11):1649-54.
48. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attié T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R.J Med Genet. 2006 Feb;43(2):138-42. Epub 2005 Apr 14.
49. NOD2/CARD15 and TNFA, but not IL1B and IL1RN, are associated with Crohn’s disease. Ferreira AC, Almeida S, Tavares M, Canedo P, Pereira F, Regalo G, Figueiredo C, Trindade E, Seruca R, Carneiro F, Amil J, Machado JC, Tavarela-Veloso F.Inflamm Bowel Dis. 2005 Apr;11(4):331-9.
50. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Domingo E, Niessen RC, Oliveira C, Alhopuro P, Moutinho C, Espín E, Armengol M, Sijmons RH, Kleibeuker JH, Seruca R, Aaltonen LA, Imai K, Yamamoto H, Schwartz S Jr, Hofstra RM. Oncogene. 2005 Jun 2;24(24):3995-8.
51. Role of pathology in the identification of hereditary diffuse gastric cancer: report of a Portuguese family. Oliveira C, Moreira H, Seruca R, de Oliveira MC, Carneiro F.Virchows Arch. 2005 Feb;446(2):181-4. Epub 2004 Dec 11.
52. beta-catenin (CTNNB1) gene amplification: a new mechanism of protein overexpression in cancer. Suriano G, Vrcelj N, Senz J, Ferreira P, Masoudi H, Cox K, Nabais S, Lopes C, Machado JC, Seruca R, Carneiro F, Huntsman DG. Genes Chromosomes Cancer. 2005 Mar;42(3):238-46.
53. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espín E, Armengol M, Hamelin R, Yamamoto H, Hofstra RM, Seruca R, Lindblom A, Peltomäki P, Thibodeau SN, Aaltonen LA, Schwartz S Jr. J Med Genet. 2004 Sep;41(9):664-8.
54. Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. 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 Jr, Lindblom A, Peltomaki P, Yamamoto H, Aaltonen LA, Seruca R, Hofstra RM. Hum Mol Genet. 2004 Oct 1;13(19):2303-11. Epub 2004 Aug 4.
55. E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients. 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. Eur J Cancer. 2004 Aug;40(12):1897-903.
56. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson CE, Monaghan KG, Oliveira MJ, Seruca R, Gallinger S, Caldas C, Huntsman D. J Med Genet. 2004 Jul;41(7):508-17.
57. Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. Keller G, Vogelsang H, Becker I, Plaschke S, Ott K, Suriano G, Mateus AR, Seruca R, Biedermann K, Huntsman D, Döring C, Holinski-Feder E, Neutzling A, Siewert JR, Höfler H. J Med Genet. 2004 Jun;41(6):e89. No abstract available.
58. Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening. Carneiro F, Huntsman DG, Smyrk TC, Owen DA, Seruca R, Pharoah P, Caldas C, Sobrinho-Simões M. J Pathol. 2004 Jun;203(2):681-7.
59. Activated BRAF targets proximal colon tumors with mismatch repair deficiency and MLH1 inactivation. Domingo E, Espín E, Armengol M, Oliveira C, Pinto M, Duval A, Brennetot C, Seruca R, Hamelin R, Yamamoto H, Schwartz S Jr. Genes Chromosomes Cancer. 2004 Feb;39(2):138-42.
60. BRAF mutations characterize colon but not gastric cancer with mismatch repair deficiency.Oliveira C, Pinto M, Duval A, Brennetot C, Domingo E, Espín E, Armengol M, Yamamoto H, Hamelin R, Seruca R, Schwartz S Jr. Oncogene. 2003 Dec 11;22(57):9192-6.
61. Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oliveira C, de Bruin J, Nabais S, Ligtenberg M, Moutinho C, Nagengast FM, Seruca R, van Krieken H, Carneiro F. Oncogene. 2004 Mar 18;23(12):2236-40.
62. Frequent Ki-ras mutations in gastric tumors of the MSI phenotype.Brennetot C, Duval A, Hamelin R, Pinto M, Oliveira C, Seruca R, Schwartz S Jr. Gastroenterology. 2003 Oct;125(4):1282. No abstract available.
63. E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. Suriano G, Oliveira MJ, Huntsman D, Mateus AR, Ferreira P, Casares F, Oliveira C, Carneiro F, Machado JC, Mareel M, Seruca R. Hum Mol Genet. 2003 Nov 15;12(22):3007-16. Epub 2003 Sep 18.
64. The intracellular E-cadherin germline mutation V832 M lacks the ability to mediate cell-cell adhesion and to suppress invasion. Suriano G, Mulholland D, de Wever O, Ferreira P, Mateus AR, Bruyneel E, Nelson CC, Mareel MM, Yokota J, Huntsman D, Seruca R.Oncogene. 2003 Aug 28;22(36):5716-9.
65. MBD4 mutations are rare in gastric carcinomas with microsatellite instability.Pinto M, Wu Y, Suriano G, Mensink RG, Duval A, Oliveira C, Carvalho B, Hamelin R, Seruca R, Hofstra RM. Cancer Genet Cytogenet. 2003 Sep;145(2):103-7.
66. A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma. Machado JC, Figueiredo C, Canedo P, Pharoah P, Carvalho R, Nabais S, Castro Alves C, Campos ML, Van Doorn LJ, Caldas C, Seruca R, Carneiro F, Sobrinho-Simões M. Gastroenterology. 2003 Aug;125(2):364-71.
67. BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Soares P, Trovisco V, Rocha AS, Lima J, Castro P, Preto A, Máximo V, Botelho T, Seruca R, Sobrinho-Simões M. Oncogene. 2003 Jul 17;22(29):4578-80.
68. Concurrent hypermethylation of gene promoters is associated with a MSI-H phenotype and diploidy in gastric carcinomas. Carvalho B, Pinto M, Cirnes L, Oliveira C, Machado JC, Suriano G, Hamelin R, Carneiro F, Seruca R. Eur J Cancer. 2003 Jun;39(9):1222-7.
69. Promoter methylation of TGFbeta receptor I and mutation of TGFbeta receptor II are frequent events in MSI sporadic gastric carcinomas. Pinto M, Oliveira C, Cirnes L, Carlos Machado J, Ramires M, Nogueira A, Carneiro F, Seruca R. J Pathol. 2003 May;200(1):32-8.
70. Genetic screening for hereditary diffuse gastric cancer. Oliveira C, Seruca R, Caldas C.Expert Rev Mol Diagn. 2003 Mar;3(2):201-15. Review.
71. Patterns of beta-catenin expression in gastric carcinoma: clinicopathological relevance and mutation analysis. Nabais S, Machado JC, Lopes C, Seruca R, Carneiro F, Sobrinho-Simões M. Int J Surg Pathol. 2003 Jan;11(1):1-9.
72. Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands.Suriano G, Oliveira C, Ferreira P, Machado JC, Bordin MC, De Wever O, Bruyneel EA, Moguilevsky N, Grehan N, Porter TR, Richards FM, Hruban RH, Roviello F, Huntsman D, Mareel M, Carneiro F, Caldas C, Seruca R. Hum Mol Genet. 2003 Mar 1;12(5):575-82.
73. WNT-inducible signaling pathway protein 3, WISP-3, is mutated in microsatellite unstable gastrointestinal carcinomas but not in endometrial carcinomas. Thorstensen L, Holm R, Lothe RA, Tropé C, Carvalho B, Sobrinho-Simoes M, Seruca R. Gastroenterology. 2003 Jan;124(1):270-1. No abstract available.
74. Role of site-specific promoter hypomethylation in aberrant MUC2 mucin expression in mucinous gastric carcinomas. Mesquita P, Peixoto AJ, Seruca R, Hanski C, Almeida R, Silva F, Reis C, David L.Cancer Lett. 2003 Jan 28;189(2):129-36.
75. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, Seruca R, Iacopetta B, Hamelin R. Gastroenterology. 2002 Dec;123(6):1804-11.
76. Helicobacter pylori and interleukin 1 genotyping: an opportunity to identify high-risk individuals for gastric carcinoma. Figueiredo C, Machado JC, Pharoah P, Seruca R, Sousa S, Carvalho R, Capelinha AF, Quint W, Caldas C, van Doorn LJ, Carneiro F, Sobrinho-Simões M. J Natl Cancer Inst. 2002 Nov 20;94(22):1680-7.
77. Different patterns of beta-catenin expression in gastric carcinomas: relationship with clinicopathological parameters and prognostic outcome. Nabais S, Machado JC, Lopes C, Seruca R, Carneiro F, Sobrinho-Simões M. Histopathology. 2002 Oct;41(4):368-9. No abstract available.
78. Loss of heterozygosity and promoter methylation, but not mutation, may underlie loss of TFF1 in gastric carcinoma.Carvalho R, Kayademir T, Soares P, Canedo P, Sousa S, Oliveira C, Leistenschneider P, Seruca R, Gött P, Blin N, Carneiro F, Machado JC.Lab Invest. 2002 Oct;82(10):1319-26.
79. Novel expressed sequences obtained by means of a suppression subtractive hybridisation analysis from the 6q21 region that is frequently deleted in gastric cancer. Carvalho B, Seruca R, Buys CH, Kok K. Eur J Cancer. 2002 May;38(8):1126-32.
80. Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, Caldas C.Hum Mutat. 2002 May;19(5):510-7.
81. Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency. Duval A, Reperant M, Compoint A, Seruca R, Ranzani GN, Iacopetta B, Hamelin R. Cancer Res. 2002 Mar 15;62(6):1609-12.
82. [Prophylactic gastrectomy in patients with deleterious E-cadherin gene mutation] Huntsman D, Carneiro F, Lewis F, MacLeod P, Hayashi A, Monaghan K, Maung R, Seruca R, Jackson C, Caldas C. Gastroenterol Clin Biol. 2001 Oct;25(10):931-2. French. No abstract available.
83. Re. ‘Cellular phenotypes of differentiated-type adenocarcinomas and precancerous lesions of the stomach are dependent on the genetic pathways’.Nabais S, Carneiro F, Nogueira AM, Machado JC, Seruca R, Sobrinho-Simões M. J Pathol. 2001 Dec;195(5):636-7. No abstract available.
84. Allelic gains and losses in distinct regions of chromosome 6 in gastric carcinoma. Carvalho B, van der Veen A, Gärtner F, Carneiro F, Seruca R, Buys CH, Kok K. Cancer Genet Cytogenet. 2001 Nov;131(1):54-9.
85. Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma. Machado JC, Pharoah P, Sousa S, Carvalho R, Oliveira C, Figueiredo C, Amorim A, Seruca R, Caldas C, Carneiro F, Sobrinho-Simões M. Gastroenterology. 2001 Oct;121(4):823-9.
86. Microsatellite instability, mitochondrial DNA large deletions, and mitochondrial DNA mutations in gastric carcinoma. Máximo V, Soares P, Seruca R, Rocha AS, Castro P, Sobrinho-Simões M. Genes Chromosomes Cancer. 2001 Oct;32(2):136-43.
87. Abnormalities of the E-cadherin/catenin adhesion complex in classical papillary thyroid carcinoma and in its diffuse sclerosing variant. Rocha AS, Soares P, Seruca R, Máximo V, Matias-Guiu X, Cameselle-Teijeiro J, Sobrinho-Simões M. J Pathol. 2001 Jul;194(3):358-66.
88. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, Maung R, Seruca R, Jackson CE, Caldas C. N Engl J Med. 2001 Jun 21;344(25):1904-9.
89. E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma.Machado JC, Oliveira C, Carvalho R, Soares P, Berx G, Caldas C, Seruca R, Carneiro F, Sobrinho-Simöes M. Oncogene. 2001 Mar 22;20(12):1525-8.
90. Detection of N-myc amplification in neuroblastomas using Southern blotting on fine needle aspirates.Barroca H, Carvalho JL, da Costa MJ, Cirnes L, Seruca R, Schmitt FC. Acta Cytol. 2001 Mar-Apr;45(2):169-72.
91. Mitochondrial DNA alteration in gastric cancer.Máximo V, Soares P, Machado JC, Seruca R, Sobrinho-Simões M. Gastroenterology. 2000 Dec;119(6):1808-9. No abstract available.
92. MSI-L gastric carcinomas share the hMLH1 methylation status of MSI-H carcinomas but not their clinicopathological profile.Pinto M, Oliveira C, Machado JC, Cirnes L, Tavares J, Carneiro F, Hamelin R, Hofstra R, Seruca R, Sobrinho-Simões M.Lab Invest. 2000 Dec;80(12):1915-23.
93. Correspondence re: A. E. Biemer-Huttmann et al., Mucin core protein expression in colorectal cancers with high levels of microsatellite instability indicates a novel pathway of morphogenesis. Clin. Cancer Res., 6: 1909-1916, 2000.David L, Silva F, Seruca R, Pinto M, Reis C, Sobrinho-Simões M. Clin Cancer Res. 2000 Nov;6(11):4461-2. No abstract available.
94. Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours. Alves C, Silva F, Gusmão L, Seruca R, Soares P, Reis RM, Amorim A. Eur J Hum Genet. 2000 Jul;8(7):540-4.
95. Comments on: mutations in mitochondrial control region DNA in gastric tumours of Japanese patients, Tamura, et al. Eur J Cancer 1999, 35, 316-319. Máximo V, Soares P, Seruca R, Sobrinho-Simões M. Eur J Cancer. 1999 Sep;35(9):1407-8. No abstract available.
96. Familial gastric cancer: overview and guidelines for management. Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, Keller G, Park KG, Richards FM, Maher ER, Gayther SA, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder BA, Jackson CE.J Med Genet. 1999 Dec;36(12):873-80. Review.
97. E-cadherin changes in gastric carcimona. Carneiro F, Machado JC, Seruca R, Sobrinho-Simões M. Histopathology. 1999 Nov;35(5):477-8. No abstract available.
98. Microsatellite instability in hyperplastic and adenomatous polyps of the stomach.Nogueira AM, Carneiro F, Seruca R, Cirnes L, Veiga I, Machado JC, Sobrinho-Simões M. Cancer. 1999 Nov 1;86(9):1649-56.
99. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. J Med Genet. 1999 Aug;36(8):629-32.
100. Substantial reduction of the gastric carcinoma critical region at 6q16.3-q23.1.Carvalho B, Seruca R, Carneiro F, Buys CH, Kok K. Genes Chromosomes Cancer. 1999 Sep;26(1):29-34.
101. Microsatellite instability in medullary breast carcinomas.Schmitt FC, Soares R, Gobbi H, Milanezzi F, Santos-Silva F, Cirnes L, Costa C, Seruca R. Int J Cancer. 1999 Aug 27;82(5):644-7.
102. P53 in breast carcinomas: association between presence of mutation and immunohistochemical expression using a semiquantitative approach. Schmitt FC, Soares R, Cirnes L, Seruca R. Pathol Res Pract. 1998;194(12):815-9.
103. Bilateral apocrine carcinoma of the breast. Molecular and immunocytochemical evidence for two independent primary tumours. Schmitt FC, Soares R, Seruca R. Virchows Arch. 1998 Dec;433(6):505-9.
104. Microsatellite instability is not associated with degree of malignancy and p53 expression of gastrointestinal stromal tumours. Lopes JM, Silva P, Seixas M, Cirnes L, Seruca R.Histopathology. 1998 Dec;33(6):579-81. No abstract available.
105. PCR amplification of DNA obtained from archived hematoxylin-eosin–and giemsa-stained breast cancer aspirates. Schmitt FC, Soares R, Cirnes L, Seruca R. Diagn Cytopathol. 1998 Nov;19(5):395-7.
106. Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a “protector” haplotype. Peixoto A, dos Santos MR, Seruca R, Amorim A, Castedo S. Eur J Hum Genet. 1998 Sep-Oct;6(5):518-22.
107. 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. Oliveira C, Seruca R, Seixas M, Sobrinho-Simões M. Am J Pathol. 1998 Oct;153(4):1211-9. Review.
108. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, Machado JC, Pinto E, Seruca R, Halling K, MacLeod P, Powell SM, Jackson CE, Ponder BA, Caldas C. Cancer Res. 1998 Sep 15;58(18):4086-9.
109. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Zhou XP, Hoang JM, Li YJ, Seruca R, Carneiro F, Sobrinho-Simoes M, Lothe RA, Gleeson CM, Russell SE, Muzeau F, Fléjou JF, Hoang-Xuan K, Lidereau R, Thomas G, Hamelin R.Genes Chromosomes Cancer. 1998 Feb;21(2):101-7.
110. Assessment of microsatellite alterations in young patients with gastric adenocarcinoma. Seruca R, Sobrinho-Simões M. Cancer. 1997 Oct 1;80(7):1358-60. No abstract available.
111. Tetra- and pentanucleotide short tandem repeat instability in gastric cancer. Silva F, Gusmão L, Alves C, Seruca R, David L, Amorim A. Electrophoresis. 1997 Aug;18(9):1633-6.
112. Relationship between the expression of p53 and the aggressiveness of gastric carcinoma.Seruca R, David L, Sobrinho-Simões M. J Pathol. 1997 Mar;181(3):349. No abstract available.
113. Benign and malignant thyroid lesions show instability at microsatellite loci. Soares P, dos Santos NR, Seruca R, Lothe RA, Sobrinho-Simões M. Eur J Cancer. 1997 Feb;33(2):293-6.
114. MUC1 gene polymorphism and gastric cancer–an epidemiological study. Carvalho F, Seruca R, David L, Amorim A, Seixas M, Bennett E, Clausen H, Sobrinho-Simões M.Glycoconj J. 1997 Jan;14(1):107-11.
115. Establishment and characterization of two cell lines derived from human diffuse gastric carcinomas xenografted in nude mice. Gärtner F, David L, Seruca R, Machado JC, Sobrinho-Simões M. Virchows Arch. 1996 May;428(2):91-8.
116. Microsatellite instability at multiple loci in gastric carcinoma: clinicopathologic implications and prognosis. dos Santos NR, Seruca R, Constância M, Seixas M, Sobrinho-Simões M. Gastroenterology. 1996 Jan;110(1):38-44.
117. Identification of two distinct regions of deletion at 6q in gastric carcinoma. Queimado L, Seruca R, Costa-Pereira A, Castedo S. Genes Chromosomes Cancer. 1995 Sep;14(1):28-34.
118. Increasing levels of MYC and MET co-amplification during tumor progression of a case of gastric cancer. Seruca R, Suijkerbuijk RF, Gärtner F, Criado B, Veiga I, Olde-Weghuis D, David L, Castedo S, Sobrinho-Simões M. Cancer Genet Cytogenet. 1995 Jul 15;82(2):140-5.
119. Detection of numerical alterations for chromosomes 7 and 12 in benign thyroid lesions by in situ hybridization. Histological implications. Criado B, Barros A, Suijkerbuijk RF, Weghuis DO, Seruca R, Fonseca E, Castedo S. Am J Pathol. 1995 Jul;147(1):136-44.
120. Sporadic gastric carcinomas with microsatellite instability display a particular clinicopathologic profile. Seruca R, Santos NR, David L, Constância M, Barroca H, Carneiro F, Seixas M, Peltomäki P, Lothe R, Sobrinho-Simões M.Int J Cancer. 1995 Feb 20;64(1):32-6.
121. Retinoblastoma gene structure and product expression in human gastric carcinomas. Constância M, Seruca R, Carneiro F, Silva F, Castedo S. Br J Cancer. 1994 Nov;70(5):1018-24. Erratum in: Br J Cancer 1995 May;71(5):1122.
122. p53 alterations in gastric carcinoma: a study of 56 primary tumors and 204 nodal metastases. Seruca R, David L, Castedo S, Veiga I, Børresen AL, Sobrinho-Simões M. Cancer Genet Cytogenet. 1994 Jul 1;75(1):45-50.
123. Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint. de Leeuw B, Balemans M, Weghuis DO, Seruca R, Janz M, Geraghty MT, Gilgenkrantz S, Ropers HH, Geurts van Kessel A. Hum Mol Genet. 1994 May;3(5):745-9.
124. An immunohistochemical study of ras oncoprotein expression in gastric carcinoma. Carneiro F, Seruca R, Ribeiro AC, Sobrinho-Simões M. Cancer. 1994 Apr 1;73(7):2010-2. No abstract available.
125. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Peltomäki P, Lothe RA, Aaltonen LA, Pylkkänen L, Nyström-Lahti M, Seruca R, David L, Holm R, Ryberg D, Haugen A, et al. Cancer Res. 1993 Dec 15;53(24):5853-5.
126. Hyperplastic polyposis and diffuse carcinoma of the stomach. A study of a family. Carneiro F, David L, Seruca R, Castedo S, Nesland JM, Sobrinho-Simões M. Cancer. 1993 Jul 15;72(2):323-9.
127. Cytogenetic findings in eleven gastric carcinomas. Seruca R, Castedo S, Correia C, Gomes P, Carneiro F, Soares P, de Jong B, Sobrinho-Simões M. Cancer Genet Cytogenet. 1993 Jul 1;68(1):42-8.
128. Clonal cytogenetic abnormalities and telomeric associations in a fibroxanthoma of the stomach. Seruca R, Carneiro F, Soares P, Fonseca E, Castedo S. Genes Chromosomes Cancer. 1992 Nov;5(4):407-9.
129. Loss of Y chromosome in gastric carcinoma. Fact or artifact? Castedo S, Correia C, Gomes P, Seruca R, Soares P, Carneiro F, Sobrinho-Simões M. Cancer Genet Cytogenet. 1992 Jul 1;61(1):39-41.
130. c-erbB-2 expression in primary gastric carcinomas and their metastases.David L, Seruca R, Nesland JM, Soares P, Sansonetty F, Holm R, Børresen AL, Sobrinho-Simões M. Mod Pathol. 1992 Jul;5(4):384-90.
131. P53 mutations in gastric carcinomas. Seruca R, David L, Holm R, Nesland JM, Fangan BM, Castedo S, Sobrinho-Simões M, Børresen AL. Br J Cancer. 1992 May;65(5):708-10.
132. Familial gastric polyposis revisited. Autosomal dominant inheritance confirmed. Seruca R, Carneiro F, Castedo S, David L, Lopes C, Sobrinho-Simões M. Cancer Genet Cytogenet. 1991 May;53(1):97-100.
133. Cytogenetic study of a sclerosing stromal tumor of the ovary. Lopes JM, Seruca R, Hall AP, Branco P, Castedo SM. Cancer Genet Cytogenet. 1990 Oct 1;49(1):103-6.
134. Chromosomal changes in human primary testicular nonseminomatous germ cell tumors.Castedo SM, de Jong B, Oosterhuis JW, Seruca R, Idenburg VJ, Dam A, te Meerman G, Koops HS, Sleijfer DT.Cancer Res. 1989 Oct 15;49(20):5696-701.
135. A malignant mixed gonadal stromal tumor of the testis with heterologous components and i(12p) in one of its metastases.Oosterhuis JW, Castedo SM, de Jong B, Seruca R, Dam A, Vos A, de Koning J, Schraffordt Koops H, Sleijfer DT.Cancer Genet Cytogenet. 1989 Aug;41(1):105-14.
136. Chromosomal changes in mature residual teratomas following polychemotherapy. Castedo SM, de Jong B, Oosterhuis JW, Idenburg VJ, Seruca R, Buist J, te Meerman GJ, Schraffordt Koops H, Sleijfer DT. Cancer Res. 1989 Feb 1;49(3):672-6.
137. Chromosomal analysis and the classification of soft tissue sarcomas.Molenaar WM, DeJong B, Buist J, Idenburg VJ, Seruca R, Vos AM, Hoekstra HJ. Lab Invest. 1989 Feb;60(2):266-74.
138. Cytogenetic analysis of ten human seminomas. Castedo SM, de Jong B, Oosterhuis JW, Seruca R, te Meerman GJ, Dam A, Schraffordt Koops H. Cancer Res. 1989 Jan 15;49(2):439-43.
139. Karyotyping and DNA flow cytometry of an orchidoblastoma. Oosterhuis JW, Castedo SM, de Jong B, Seruca R, Buist J, Schraffordt Koops H, Leeuw JB.Cancer Genet Cytogenet. 1988 Nov;36(1):7-11.
140. i(12p)-negative testicular germ cell tumors. A different group? Castedo SM, de Jong B, Oosterhuis JW, Seruca R, Idenburg VJ, Buist J, Sleijfer DT. Cancer Genet Cytogenet. 1988 Oct 15;35(2):171-8.
141. Cytogenetic study of a combined germ cell tumor of the testis. Castedo SM, de Jong B, Oosterhuis JW, Seruca R, Buist J, Koops HS. Cancer Genet Cytogenet. 1988 Oct 15;35(2):159-65.
142. Cytogenetics of a case of osteosarcoma.Castedo SM, Seruca R, Oosterhuis JW, de Jong B, Schraffordt Koops H, Leeuw JA. Cancer Genet Cytogenet. 1988 May;32(1):149-51.
143. A residual mature teratoma with a more balanced karyotype than the primary testicular nonseminoma? Castedo SM, Oosterhuis JW, de Jong B, Seruca R, Dam A, Buist J, Schraffordt Koops H, Sleijfer DT. Cancer Genet Cytogenet. 1988 May;32(1):51-7.
