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

[1] The first genotype-phenotype study of European carriers of CDH1 germline mutations
Garcia-Pelaez, Jose
Monteiro, Ana R.
Sousa, Liliana
Pinheiro, Hugo
Castedo, Sergio
Garrido, Luzia
Teixeira, Manuel
Michils, Genevieve
Bours, Vicent
de Putter, Robin
Golmard, Lisa
Blanluet, Maud
Colas, Chrystelle
Benusiglio, Patrick
Aretz, Stefan
Spier, Isabel
Hueneburg, Robert
Gieldon, Laura
Schroeck, Evelyn
Holinski-Feder, Elke
Steinke, Verena
Calistri, Daniele
Tedaldi, Gianluca
Ranzani, Guglielmina N.
Genuardi, Maurizio
Silveira, Catarina
Silva, Ines
Krajc, Mateja
Blatnik, Ana
Novakovic, Srdjan
Patino-Garcia, Ana
Soto, Jose L.
Lazaro, Conxi
Capella, Gabriel
Brunet-Vidal, Joan
Balmana, Judith
Dominguez-Garrido, Elena
Ligtenberg, Marjolijn
Fewings, Eleanor
Fitzgerald, Rebecca C.
Woodward, Emma R.
Evans, Gareth
Hanson, Helen
Lagerstedt-Robinson, Kristina
Bajalica-Lagercrantz, Svetlana
Egas, Conceicao
Tejada, Maria I.
Martinez-Bouzas, Cristina
Merino, Sonia
Carrera, Sergio
MEDICINE, 2020, 99 (09)
[2] Germline CDH1 mutations in lobular carcinoma in situ
Reyes, S. A.
Sakr, R. A.
Schizas, M.
Towers, R.
Park, A. Y.
Ng, C. K. Y.
Weigelt, B.
Reis-Filho, J. S.
King, T. A.
CANCER RESEARCH, 2016, 76
[3] Germline CDH1 mutations in bilateral lobular carcinoma in situ
Petridis, C.
Shinomiya, I.
Kohut, K.
Gorman, P.
Caneppele, M.
Shah, V.
Troy, M.
Pinder, S. E.
Hanby, A.
Tomlinson, I.
Trembath, R. C.
Roylance, R.
Simpson, M. A.
Sawyer, E. J.
BRITISH JOURNAL OF CANCER, 2014, 110 (04) : 1053 - 1057
[4] IMPACT OF ENDOSCOPIC SURVEILLANCE IN PATIENTS WITH CDH1 GERMLINE MUTATIONS
Burke, Carol A.
Cruise, Michael W.
O'Malley, Margaret
Mankaney, Gautam N.
Kalady, Matthew
Church, James M.
LaGuardia, Lisa A.
Heald, Brandie
GASTROINTESTINAL ENDOSCOPY, 2019, 89 (06) : AB501 - AB501
[5] Germline CDH1 mutations in bilateral lobular carcinoma in situ
C Petridis
I Shinomiya
K Kohut
P Gorman
M Caneppele
V Shah
M Troy
S E Pinder
A Hanby
I Tomlinson
R C Trembath
R Roylance
M A Simpson
E J Sawyer
British Journal of Cancer, 2014, 110 : 1053 - 1057
[6] CDH1 germline mutations and hereditary lobular breast cancer
Corso, Giovanni
Intra, Mattia
Trentin, Chiara
Veronesi, Paolo
Galimberti, Viviana
FAMILIAL CANCER, 2016, 15 (02) : 215 - 219
[7] Clinical spectrum and pleiotropic nature of CDH1 germline mutations
Figueiredo, Joana
Melo, Soraia
Carneiro, Patricia
Moreira, Ana Margarida
Fernandes, Maria Sofia
Ribeiro, Ana Sofia
Guilford, Parry
Paredes, Joana
Seruca, Raquel
JOURNAL OF MEDICAL GENETICS, 2019, 56 (04) : 199 - 208
[8] CDH1 germline mutations: different syndromes, same management?
Benusiglio, Patrick R.
GENETICS IN MEDICINE, 2017, 19 (09) : 965 - 966
[9] CDH1 germline mutations and hereditary lobular breast cancer
Giovanni Corso
Mattia Intra
Chiara Trentin
Paolo Veronesi
Viviana Galimberti
Familial Cancer, 2016, 15 : 215 - 219
[10] Outcomes of Prophylactic Total Gastrectomy in Germline CDH1 Mutation Carriers
Lim, Hui Jun
Roberts, Geoffrey
Hardwick, Richard H.
Fitzgerald, Rebecca C.
di Pietro, Massimiliano
O'Neill, J. Robert
BRITISH JOURNAL OF SURGERY, 2023, 110

← 1 2 3 4 5 →