Where Ideas Grow
Raquel Seruca
Group leader

RS received her PhD in Medicine from the Medical Faculty of Porto in 1995. RS PhD project aimed to study the role of diverse oncogenes and tumour supressor genes in the progression of gastric cancer and identified, for the first time, microsatellite instability (MSI) and MMR repair alterations as a particular molecular subtype of gastric cancer. This work brought RS international recognition in the field of genetics of gastric cancer and she is considered an international expert in stomach related diseases. Further, she studied in colorectal cancer the clinical importance of MSI, target genes and oncogenic mutations and established a model of development of BRAF and KRAS associated colorectal carcinomas.

In the setting of highly invasive cancer, namely stomach cancer, RS has been involved in determining the interactions and signalling of invasive cancer cells to promote cancer invasion and metastization. For that purpose, she uses the paradigm model of isolated invasion associated to HDGC (hereditary diffuse gastric cancer) which is mediated by loss of e-cadherin function, a key epithelial marker that is frequently lost in invasive cancer cells with high potential for distant metastization. In the context of HDGC is an international reference and she is responsible to serve the International Gastric Cancer Linkage Consortium for silico and in vitro functional assays to assess the pathogenic role of all CDH1 germline missense mutations detected worldwide (from New Zeeland, Europe, Asia to North and South America). Due to the work developed along the years RS is regarded the worldwide expert on cancer cell invasion, namely in gastric and in colon cancer. Further, due to the international recognition in hereditary tumours of the stomach RS was invited to become a member of the Scientific Advisory Council of the American association that supports families with gastric cancer (http://www.nostomachforcancer.org/about-us/scientific-advisory-council).

Selected Publications

Oliveira C., Pinheiro H., Figueiredo J., Seruca R., Carneiro F.,
Familial gastric cancer: Genetic susceptibility, pathology, and implications for management. The Lancet Oncology16(2):e60-e70, 2015. [Journal: Review] [CI: 229] [IF: 26,5]
DOI: 10.1016/S1470-2045(14)71016-2 SCOPUS: 84921774175.

Figueiredo J., Söderberg O., Simões-Correia J., Grannas K., Suriano G., Seruca R.,
The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. European Journal of Human Genetics21(3):301-309, 2013. [Journal: Article] [CI: 59] [IF: 4,2]
DOI: 10.1038/ejhg.2012.159 SCOPUS: 84874105136.

Caldeira J., Figueiredo J., Brás-Pereira C., Carneiro P., Moreira A.M., Pinto M.T., Relvas J.B., Carneiro F., Barbosa M., Casares F., Janody F., Seruca R.,
E-cadherin-defective gastric cancer cells depend on Laminin to survive and invade. Human Molecular Genetics24(20):5891-5900, 2015. [Journal: Article] [CI: 22] [IF: 6]
DOI: 10.1093/hmg/ddv312 SCOPUS: 84943762566.

Vogelaar I.P., Figueiredo J., Van rooij I.A.L.M., Simões-correia J., Van der post R.S., Melo S., Seruca R., Carels C.E.L., Ligtenberg M.J.L., Hoogerbrugge N.,
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. Human Molecular Genetics22(5):919-926, 2013. [Journal: Article] [CI: 45] [IF: 6,7]
DOI: 10.1093/hmg/dds497 SCOPUS: 84873422090.

Simões-Correia J., Figueiredo J., Lopes R., Stricher F., Oliveira C., Serrano L., Seruca R.,
E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer. PLoS ONE7(3):, 2012. [Journal: Article] [CI: 50] [IF: 3,7]
DOI: 10.1371/journal.pone.0033783 SCOPUS: 84858685771.

Oliveira C., Sousa S., Pinheiro H., Karam R., Bordeira-Carriço R., Senz J., Kaurah P., Carvalho J., Pereira R., Gusmão L., Wen X., Cipriano M.A., Yokota J., Carneiro F., Huntsman D., Seruca R.,
Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression. Gastroenterology136(7):2137-2148, 2009. [Journal: Article] [CI: 136] [IF: 12,9]
DOI: 10.1053/j.gastro.2009.02.065 SCOPUS: 66149108352.

Simões-Correia J., Figueiredo J., Oliveira C., van Hengel J., Seruca R., van Roy F., Suriano G.,
Endoplasmic reticulum quality control: A new mechanism of E-cadherin regulation and its implication in cancer. Human Molecular Genetics17(22):3566-3576, 2008. [Journal: Article] [CI: 49] [IF: 7,2]
DOI: 10.1093/hmg/ddn249 SCOPUS: 54949124637.

Suriano G., Seixas S., Rocha J., Seruca R.,
A model to infer the pathogenic significance of CDH1 germline missense variants. Journal of Molecular Medicine84(12):1023-1031, 2006. [Journal: Article] [CI: 58] [IF: 5,2]
DOI: 10.1007/s00109-006-0091-z SCOPUS: 34249980933.

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 J.C., Attie T., Jabs E.W., Cai J., Pellerin P., Triboulet J.P., Scotte M., Le Pessot F., Hedouin A., Carneiro F., Blayau M., Seruca R.,
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. Journal of Medical Genetics43(2):138-142, 2006. [Journal: Article] [CI: 137] [IF: 5,1]
DOI: 10.1136/jmg.2005.031385 SCOPUS: 32944469779.

Suriano G., Oliveira C., Ferreira P., Machado J.C., Bordin M.C., De Wever O., Bruyneel E.A., Moguilevsky N., Grehan N., Porter T.R., Richards F.M., Hruban R.H., Roviello F., Huntsman D., Mareel M., Carneiro F., Caldas C., Seruca R.,
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. Human Molecular Genetics12(5):575-582, 2003. [Journal: Article] [CI: 153] [IF: 8,6]
DOI: 10.1093/hmg/ddg048 SCOPUS: 0037342636.