GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS

Por: Pelaez, J, Monteiro, R, Lobo, S, 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, Desseignes, C, Florence, C, 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, Novacovik, 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, Tejada, M, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M and Oliveira, C

---

Publicada: 29 ene 2021

---

---

Filiaciones:
Pelaez, J:
 i3S, IPATIMUP, Porto, Portugal

 Ctr Hosp Univ Sao Joao CHUSJ, Porto, Portugal

Monteiro, R:
 i3S, IPATIMUP, Porto, Portugal

 Ctr Hosp Univ Sao Joao CHUSJ, Porto, Portugal

Lobo, S:
 i3S, IPATIMUP, Porto, Portugal

 Ctr Hosp Univ Sao Joao CHUSJ, Porto, Portugal

Sousa, L:
 i3S, IPATIMUP, Porto, Portugal

 Ctr Hosp Univ Sao Joao CHUSJ, Porto, Portugal

Pinheiro, H:
 i3S, IPATIMUP, Porto, Portugal

 Ctr Hosp Univ Sao Joao CHUSJ, Porto, Portugal

Castedo, S:
 i3S, IPATIMUP, Porto, Portugal

 Univ Porto FMUP, Fac Med, Porto, Portugal

Garrido, L:
 Ctr Hosp Univ Sao Joao CHUSJ, Porto, Portugal

Teixeira, M:
 Inst Portugues Oncol Porto, IPO, Porto, Portugal

 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

Michils, G:
 Univ Leuven, Ctr Human Genet, Leuven, Belgium

Bours, V:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Univ Liege, GIGA Inst, Lab Human Genet, Liege, Belgium

 Univ Hosp CHU, Ctr Genet, Liege, Belgium

de Putter, R:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Univ Hosp Ghent, Clin Genet Dept, Ghent, Belgium

Golmard, L:
 Inst Curie, Serv Genet Oncol, Paris, France

Blanluet, M:
 Inst Curie, Serv Genet Oncol, Paris, France

Colas, C:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Inst Curie, Serv Genet Oncol, Paris, France

Benusiglio, P:
 GH Pitie Salpetriere, Dept Genet, Paris, France

Desseignes, C:
 GH Pitie Salpetriere, Dept Genet, Paris, France

Florence, C:
 GH Pitie Salpetriere, Dept Genet, Paris, France

Aretz, S:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Univ Hosp Bonn, Inst Human Genet, Bonn, Germany

Spier, I:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Univ Hosp Bonn, Inst Human Genet, Bonn, Germany

Huneburg, R:
 Univ Hosp Bonn, Dept Internal Med 1, Bonn, Germany

 Univ Hosp Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany

Gieldon, L:
 Tech Univ Dresden, Med Fac CGC, Inst Clin Genet, Dresden, Germany

Schrock, E:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Tech Univ Dresden, Med Fac CGC, Inst Clin Genet, Dresden, Germany

Holinski-Feder, E:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Klinikum Univ Munchen, Med Klin & Poliklin 4, Munich, Germany

 Med Genet Zentrum, Munich, Germany

Steinke, V:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Klinikum Univ Munchen, Med Klin & Poliklin 4, Munich, Germany

 Med Genet Zentrum, Munich, Germany

Calistri, D:
 Ist Sci Romagnolo Studio & Cura Tumori IRST IRCCS, Biosci Lab, Meldola, Italy

Tedaldi, G:
 Ist Sci Romagnolo Studio & Cura Tumori IRST IRCCS, Biosci Lab, Meldola, Italy

Ranzani, G:
 Dept Biol & Biotechnol Lazzaro Spallanza, Pavia, Italy

Genuardi, M:
 Univ Cattolica Sacro Cuore, Inst Genom Med, Rome, Italy

Silveira, C:
 Genomed Diagnost Med Mol SA, Lisbon, Portugal

Silva, I:
 Genomed Diagnost Med Mol SA, Lisbon, Portugal

Krajc, M:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Inst Oncol Ljubljana, Dept Mol Diagnost, Ljubljana, Slovenia

Blatnik, A:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Inst Oncol Ljubljana, Dept Mol Diagnost, Ljubljana, Slovenia

Novacovik, S:
 Inst Oncol Ljubljana, Dept Mol Diagnost, Ljubljana, Slovenia

Patino-Garcia, A:
 Univ Clin Navarra, Clin Genet Unit, Pamplona, Spain

 Univ Clin Navarra, CIMA LAB Diagnost, Pamplona, Spain

Soto J:
 Elche Univ Hosp, Mol Genet Lab, Elche, Spain

Lazaro, C:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 IDIBELL, Catalan Inst Oncol, Hereditary Canc Program, Barcelona, Spain

 CIBERONC, Barcelona, Spain

Capella, G:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 IDIBELL, Catalan Inst Oncol, Hereditary Canc Program, Barcelona, Spain

 CIBERONC, Barcelona, Spain

Brunet-Vidal, J:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Bellvitge Inst Biomed Res IDIBELL, Catalan Inst Oncol ICO, Hereditary Canc Programme, Barcelona, Spain

 Biomed Res Inst IDIBGI, Barcelona, Spain

Balmana, J:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Hosp Valle De Hebron, Barcelona, Spain

 Univ Autonoma Barcelona, Barcelona, Spain

Dominguez-Garrido, E:
 Fdn Rioja Salud, Mol Diagnost Lab, Logrono, Spain

Ligtenberg, M:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands

Fewings, E:
 Univ Cambridge, Med Genet, Cambridge, England

Fitzgerald, R:
 Univ Cambridge, Hutchison MRC Res Ctr, MRC Canc Unit, Cambridge, England

Woodward, E:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Univ Manchester, Div Evolut & Genom Sci, Manchester, Greater Manches, England

 Manchester Ctr Genom Med, NW Genom Lab Hub, Manchester, Lancs, England

Evans, G:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Manchester Ctr Genom Med, Manchester, Lancs, England

Hanson, H:
 St Georges NHS Fdn Trust, London, England

Lagerstedt-Robinson, K:
 Karolinska Inst, Stockholm, Sweden

 Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

Bajalica-Lagercrantz, S:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Karolinska Inst, Stockholm, Sweden

 Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

Egas, C:
 Biocant Transfer Technol Assoc, Cantanhede, Portugal

Tejada, M:
 Biocruces Hlth Res Inst, Baracaldo, Spain

Dahan, K:
 Inst Pathol & Genet, Ctr Human Gen, Gosselies, Belgium

Feret, D:
 Inst Pathol & Genet, Ctr Human Gen, Gosselies, Belgium

Hoogerbrugge, N:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Radboud Univ Nijmegen, Med Ctr, Human Genet, Nijmegen, Netherlands

Tischkowitz, M:
 European Reference Network Genet Tumour Risk Synd, Porto, Portugal

 Univ Cambridge, Med Genet, Cambridge, England

Oliveira, C:
 i3S, Express Regulat Canc, Porto, Portugal

 Ipatimup, Porto, Portugal

 FMUP, Porto, Portugal

 ERN GENTURIS, Porto, Portugal

 CDH1 ClinGen Working Grp, Porto, Portugal