The first genotype-phenotype study on European carriers of CDH1 germline mutations

被引：0

作者：

Garcia-Pelaez, J. ^{[1
]}

Monteiro, R. ^{[1
]}

Sousa, L. ^{[1
]}

Pinheiro, H. ^{[1
]}

Castedo, S. ^{[1
,2
,3
]}

Garrido, L. ^{[2
]}

Teixeira, M. ^{[4
,5
]}

Michils, G. ^{[6
]}

Bours, V. ^{[5
,7
,8
]}

de Putter, R. ^{[5
,9
]}

Golmard, L.

Blanluet, M. ^{[10
]}

Colas, C. ^{[5
,10
]}

Benusiglio, P. ^{[11
]}

Aretz, S.

Spier, I. ^{[5
,12
,13
]}

Hueneburg, R. ^{[13
,14
]}

Gieldon, L. ^{[15
,16
]}

Schroeck, E. ^{[5
,15
,16
]}

Holinski-Feder, E.

Steinke, V. ^{[5
,17
,18
]}

Calistri, D.

Tedaldi, G. ^{[19
]}

Ranzani, G. ^{[20
]}

Genuardi, M. ^{[21
,22
]}

Silveira, C.

Silva, I. ^{[23
]}

Krajc, M.

Blatnik, A. ^{[5
,24
]}

Novakovic, S. ^{[24
]}

Patino-Garcia, A. ^{[25
,26
]}

Soto, J. ^{[27
]}

Lazaro, C. ^{[5
,28
]}

Capella, G. ^{[5
,28
]}

Brunet-Vidal, J. ^{[5
,29
]}

Balmana, J. ^{[5
,30
]}

Dominguez-Garrido, E. ^{[31
]}

Ligtenberg, M. ^{[5
,32
,33
]}

Fewings, E. ^{[34
,35
]}

Fitzgerald, R. ^{[36
]}

Woodward, E. ^{[5
,37
,38
]}

Evans, G. ^{[5
,39
]}

Hanson, H. ^{[40
]}

Lagerstedt-Robinson, K. ^{[41
,42
]}

Bajalica-Lagercrantz, S. ^{[5
,41
,42
]}

Egas, C. ^{[43
]}

Martinez-Bouzas, C. ^{[44
,45
]}

Dahan, K.

Feret, D. ^{[46
]}

Hoogerbrugge, N. ^{[5
,32
,33
]}

机构：

[1] IPATIMUP i3S, Porto, Portugal

[2] Ctr Hosp Univ Sao Joao CHSJ, Porto, Portugal

[3] Univ Porto, Fac Med, Porto, Portugal

[4] Inst Portugues Oncol Porto, IPO, Porto, Portugal

[5] European Reference Network Genet Tumour Risk Synd, Nijmegen, Netherlands

[6] Katholieke Univ Leuven, Ctr Human Genet, Leuven, Belgium

[7] Univ Liege, GIGA Inst, Lab Human Genet, Liege, Belgium

[8] Univ Hosp CHU, Ctr Genet, Liege, Belgium

[9] Univ Hosp Ghent, Dept Clin Genet, Ghent, Belgium

[10] Inst Curie, Dept Genet, Paris, France

[11] GH Pitie Salpetriere, Dept Genet, Paris, France

[12] Univ Bonn, Inst Human Genet, Bonn, Germany

[13] Univ Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany

[14] Univ Hosp Bonn, Dept Internal Med, Bonn, Germany

[15] Med Fak Carl Gustav Carus, Inst Klin Genet, Dresden, Germany

[16] German Canc Res Ctr DKFZ Heidelberg, German Canc Consortium DKTK, Natl Ctr Tumor Dis NCT Site Dresden, Core Unit Mol Tumordiagnost, Dresden, Germany

[17] Klinikum Univ Munchen, Med Klin & Poliklin 4, Campus Innenstadt, Munich, Germany

[18] MGZ Med Genet Zentrum, Munich, Germany

[19] Ist Sci Romagnolo Studio & Cura Tumori IRST IRCCS, Biosci Lab, Meldola, Italy

[20] Univ Pavia, Dept Biol & Biotechnol Lazzaro Spallanzani, Pavia, Italy

[21] Fdn Policlin Univ Gemelli IRCCS, UOC Genet Medica, Rome, Italy

[22] Univ Cattolica Sacro Cuore, Ist Med Genom, Rome, Italy

[23] Genomed Diagnost Med Mol SA, Lisbon, Portugal

[24] Inst Oncol Ljubljana, Dept Mol Diagnost, Ljubljana, Slovenia

[25] Univ Clin Navarra, Clin Genet Unit, Pamplona, Spain

[26] Univ Clin Navarra, CIMA LAB Diagnost, Pamplona, Spain

[27] Elche Univ Hosp, Mol Genet Lab, Elche, Spain

[28] CIBERONC, Catalan Inst Oncol, IDIBELL, Barcelona, Spain

[29] Catalan Inst Oncol, IDIBELL, IDIBGI, Barcelona Girona, Portugal

[30] Hosp Valle De Hebron, Barcelona, Spain

[31] Fdn Rioja Salud, Mol Diagnost Lab, Logrono, Spain

[32] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[33] Radboud Inst Mol Life Sci, Nijmegen, Netherlands

[34] Cambridge Biomed Res Ctr, Natl Inst Hlth Res, Acad Lab Med Genet, Cambridge, England

[35] Univ Cambridge, Cambridge, England

[36] Univ Cambridge, MRC, Canc Unit, Hutchison MRC, Cambridge, England

[37] Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, NW Genom Lab hub, Manchester, Lancs, England

[38] Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Acad Hlth Sci Ctr,Fac Sci, Manchester, Lancs, England

[39] Manchester Ctr Genom Med, Manchester, Lancs, England

[40] St Georges NHS Fdn Trust, London, England

[41] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[42] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[43] Biocant Biotechnol Innovat Ctr, Adv Serv Unit, Cantanhede, Portugal

[44] Biocruces Hlth Res Inst, Baracaldo, Spain

[45] Cruces Univ Hosp, Genet Serv, Mol Genet Lab, Baracaldo, Spain

[46] Inst Genet & Pathol, Gosselies, Belgium

[47] i3S, Porto, Portugal

[48] Ipatimup, Porto, Portugal

[49] FMUP, Porto, Portugal

[50] ERNGENTURIS, Porto, Portugal

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C10.3

引用

页码：61 / 63

页数：3

共 50 条

[41] PHENOTYPIC EXPRESSION OF CDH1 GERMLINE MUTATIONS UNSELECTED FOR HEREDITARY DIFFUSE GASTRIC CANCER
Rodriguez, Nicolette J.
Reineke, Patrick
LaDuca, Holly
Xicola, Rosa M.
Llor, Xavier
GASTROENTEROLOGY, 2018, 154 (06) : S204 - S204
[42] GERMLINE MUTATIONS IN CDH1 AND THE HEREDITARY DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME
Benusiglio, P. R.
Malka, D.
De Pauw, A.
Buecher, B.
Rouleau, E.
Colas, C.
Grandjouan, S.
Blayau, M.
Delaloge, S.
Caron, O.
ANNALS OF ONCOLOGY, 2012, 23 : 175 - 175
[43] Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer
G. Corso
B. Bonanni
P. Veronesi
V. Galimberti
Archives of Gynecology and Obstetrics, 2018, 297 : 1067 - 1068
[44] Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer
Corso, G.
Bonanni, B.
Veronesi, P.
Galimberti, V.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS, 2018, 297 (04) : 1067 - 1068
[45] Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts
Vogelaar, Ingrid P.
Figueiredo, Joana
van Rooij, Iris A. L. M.
Simoes-Correia, Joana
van der Post, Rachel S.
Melo, Soraia
Seruca, Raquel
Carels, Carine E. L.
Ligtenberg, Marjolijn J. L.
Hoogerbrugge, Nicoline
HUMAN MOLECULAR GENETICS, 2013, 22 (05) : 919 - 926
[46] Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice
Guilford, Parry
Humar, Bostjan
Blair, Vanessa
GASTRIC CANCER, 2010, 13 (01) : 1 - 10
[47] Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
Garcia-Pelaez, Jose
Barbosa-Matos, Rita
Lobo, Silvana
Dias, Alexandre
Garrido, Luzia
Castedo, Sergio
Sousa, Sonia
Pinheiro, Hugo
Sousa, Liliana
Monteiro, Rita
Maqueda, Joaquin J.
Fernandes, Susana
Carneiro, Fatima
Pinto, Nadia
Lemos, Carolina
Pinto, Carla
Teixeira, Manuel R.
Aretz, Stefan
Bajalica-Lagercrantz, Svetlana
Balmana, Judith
Blatnik, Ana
Benusiglio, Patrick R.
Blanluet, Maud
Bours, Vincent
Brems, Hilde
Brunet, Joan
Calistri, Daniele
Capella, Gabriel
Carrera, Sergio
Colas, Chrystelle
Dahan, Karin
de Putter, Robin
Desseignes, Camille
Dominguez-Garrido, Elena
Egas, Conceicao
Evans, D. Gareth
Feret, Damien
Fewings, Eleanor
Fitzgerald, Rebecca C.
Coulet, Florence
Garcia-Barcina, Maria
Genuardi, Maurizio
Golmard, Lisa
Hackmann, Karl
Hanson, Helen
Holinski-Feder, Elke
Huneburg, Robert
Krajc, Mateja
Lagerstedt-Robinson, Kristina
Lazaro, Conxi
LANCET ONCOLOGY, 2023, 24 (01): : 91 - 106
[48] Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
Garcia-Pelaez, J.
Barbosa-Matos, Rita
Lobo, Silvana
Dias, Alexandre
Garrido, Luzia
Castedo, Sergio
Sousa, Sonia Passos
Pinheiro, Hugo
Sousa, Liliana
Monteiro, Ana Rita
Maqueda, Joaquin
Fernandes, Susana
Carneiro, Fatima
Pinto, Nadia
Lemos, Carolina
Pinto, Carla
Teixeira, Manuel
Aretz, Stefan
Lagercrantz, Svetlana Bajlica
Balmana, Judith
Blatnik, Ana
Benusiglio, Patrick
Blanluet, Maud
Bours, Vincent
Brems, Hilde
Brunet, Joan
Calistri, Daniele
Capella, Gabriel
Carrera Revilla, Sergio
Colas, Chrystelle
Dahan, Karin
de Putter, Robin
Desseignes, Camille
Dominguez-Garrido, Elena
Egas, Conceicao
Evans, Gareth
Feret, Damien
Fewings, Ellie
Fitzgerald, Rebecca
Coulet, Florence
Garcia-Barcina, Maria
Genuardi, Maurizio
Lisa, Golmard
Hackmann, Karl
Hanson, Helen
Holinski-Feder, Elke
Hueneburg, Robert
Krajc, Mateja
Lagerstedt-Robinson, Kristina
Lazaro, Conxi
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 689 - 691
[49] Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea
Kim, J. H.
Seong, M-W
Lee, K. E.
Choi, H. J.
Ku, E. J.
Bae, J. H.
Park, S. S.
Choi, S. H.
Kim, S. W.
Shin, C. S.
Kim, S. Y.
CLINICAL GENETICS, 2014, 86 (05) : 482 - 486
[50] Letter Regarding: Is Prophylactic Total Gastrectomy Always Indicated in CDH1 Germline Mutant Carriers?
Corso, Giovanni
JOURNAL OF SURGICAL RESEARCH, 2020, 255 : 647 - 648

← 1 2 3 4 5 →