RG16: Familial and Individual Cancer Risk

RG16 comprises the Molecular Endocrinology, Digestive Pathology and Melanoma Groups involving clinicians from several IPOLFG Dpts and researchers of the Molecular Pathobiology Research Unit, with solid national and international input. In alignment with TL3 our challenge is to unveil the biological and molecular mechanisms behind the etiology, initiation and progression of individual and familial forms of endocrine, gastrointestinal and melanocytic neoplasia by exploring new biomarkers for prevention, early diagnosis and targeted therapy to improve clinical management.

  • Pre-clinical research: extend the 3D cell technology to other in-house and commercially available cell lines and tumour types to test the therapeutic effect of specific natural/synthetic compounds. Application: individualized cell therapies, improve patients' survival.
  • Barrett's Esophagus: improve current knowledge on BE differentiation (e.g. cardiac mucosa development) and its genetic control; to explore the recently characterized BE centrosome profile on the BE carcinogenic pathway. Application: improve BE management.
  • Familial cancer risk: identification of new susceptibility genes/variants by Next Generation Sequencing (NGS) and functional studies. Application: early diagnosis, genetic counselling, personalized therapy, improve mortality rates.
  • Aggressive/metastatic diseases: characterize the genetics of aggressive tumour development by NGS multigene panels (primary tumour, metastases, circulating tumour cells/DNA, exosomes); to identify novel target genes; to characterize (intra)tumour clonality patterns likely associated with chemoresistance. Application: biomarkers for diagnosis and therapy response, precision therapy, noninvasive follow-up. 


Relevant collaborations: Univ Hospital Gasthuisberg; Erasmus MC; Oxford Centre for Diabetes Endocrinology & Metabolism; McGill Univ Health Centre Research Institute; Children's Cancer & Blood Foundation Labs; Univ Texas Southwestern Medical Center; IGC; IPATIMUP; IPO Porto


Keywords: Endocrine Neoplasia; Digestive Pathology; Melanoma; Therapeutic Targets



Latest Publications

Lopes C, Mesquita M, Cunha AI, Cardoso J, Carapeta S, Laranjeira C, Pinto AE, Pereira-Leal JB, Dias-Pereira A, Bettencourt-Dias M, Chaves P (2018) Centrosome amplification arises before neoplasia and increases upon p53 loss in tumorigenesis. Journal of Cell Biology 217(7):2353

Cavaco BM, Canaff L, Nolin-Lapalme A, Vieira M, Silva T, Saramago A, Domingues R, Rutter MM, Hudon J, Gleason JL, Leite V, Hendy GN (2018) Homozygous calcium-sensing receptor polymorphism R544Q presents as hypocalcemic hypoparathyroidism. The Journal of Clinical Endocrinology and Metabolism  103(8): 2879–2888.

Torres J, Palmela C, Brito H, Bao X, Ruiqi H, Moura-Santos P, Pereira da Silva J, Oliveira A, Vieira C, Perez K, Itzkowitz SH, Colombel JF, Humbert L, Rainteau D, Cravo M, Rodrigues CM, Hu J (2018) The gut microbiota, bile acids and their correlation in primary sclerosing cholangitis associated with inflammatory bowel disease. United European Gastroenterology Journal 6(1):112-122

Dias CC, Portela F, Fernandes S, Ministro P, Lago P, Rosa I, Correia L, Magro F; on behalf GEDII (2018) The timing of early therapeutic strategies has a significant impact on Crohn's disease prognosis. Digestive and Liver Disease 50(5):462-468

Lopes-Ventura S, Pojo M, Matias AT, Moura MM, Marques IJ, Leite V, Cavaco BM (2018) The efficacy of HRAS and CDK4/6 inhibitors in anaplastic thyroid cancer cell lines. Journal of Endocrinological Investigation (in press)