CTNNA1 germline variants with a premature termination codon are a risk factor for development of early-onset Diffuse Gastric Cancer

被引：0

作者：

Lobo, Silvana ^{[1
,2
]}

Dias, Alexandre ^{[1
,3
]}

Colas, Chrystelle ^{[4
,5
]}

Hueneburg, Robert ^{[6
,7
,8
]}

Boussemart, Lise ^{[9
,10
]}

van Hest, Liselotte P. ^{[11
,12
]}

Moreira, Leticia ^{[13
,14
,15
]}

Horton, Carolyn ^{[16
]}

Herrera-Mullar, Jennifer ^{[16
]}

Clark, Dana Farengo ^{[17
]}

Tinschert, Sigrid ^{[18
,19
]}

Lisa, Golmard ^{[5
]}

Spier, Isabel ^{[6
,8
,20
]}

Lopez-Fernandez, Adria ^{[21
,22
,23
]}

Oliveira, Daniela ^{[24
,25
]}

Ferreira, Marta ^{[1
,3
]}

Svrcek, Magali ^{[26
,27
]}

Bourgoin, Pierre ^{[27
]}

Delhomelle, Helene ^{[4
,5
]}

Mansfield, Paul ^{[28
]}

Steinke-Lange, Verena ^{[29
,30
,31
]}

Sousa, Sergio

Balsinha, Manuela ^{[32
]}

Aretz, Stefan ^{[6
,20
]}

Balmana, Judith

Aronson, Melyssa ^{[33
]}

Antoniazzi, Augusto Perazzolo ^{[34
]}

Palmero, Edenir ^{[35
,36
]}

Van der Kolk, Lizet ^{[37
]}

Cats, Annemieke ^{[38
]}

van Dieren, Jolanda M. ^{[38
]}

Castellvi-Bel, Sergi ^{[13
,14
,15
]}

Katona, Bryson ^{[17
]}

Karam, Rachid

Coulet, Florence ^{[39
]}

Pereira, Paulo ^{[40
,41
]}

Benusiglio, Patrick ^{[42
,43
]}

Oliveira, Carla ^{[1
,44
,45
]}

机构：

[1] Univ Porto, i3S IPATIMUP Inst Invest & Inovacao Saude, Inst Patol & Imunol Mol, Porto, Portugal

[2] Univ Porto, Inst Biomed Sci Abel Salazar, Porto, Portugal

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

[4] Univ Paris Sci Lettres, Inst Curie, Dept Genet, Paris, France

[5] European Reference Network Genet Tumor Risk Syndr, Paris, France

[6] Univ Hosp Bonn, Natl Ctr Hereditary Tumor Syndromes, Bonn, Germany

[7] Univ Hosp Bonn, Dept Internal Med 1, Bonn, Germany

[8] European Reference Network Genet Tumor Risk Syndr, Bonn, Germany

[9] Univ Nantes, Univ Angers, CHU Nantes,INSERM, Immunol & New Concepts Immuno Therapy INCIT, Nantes, France

[10] Nantes Univ Hosp, Dept Dermatol, Nantes, France

[11] Vrije Univ Amsterdam, Amsterdam UMC, Amsterdam, Netherlands

[12] Univ Amsterdam, Dept Clin Genet, Amsterdam, Netherlands

[13] Hosp Clin Barcelona, Dept Gastroenterol, Barcelona, Spain

[14] Ctr Invest Biomed Red Enfermedades Hepat & Dige, Barcelona, Spain

[15] Univ Barcelona, Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain

[16] Ambry Genet, Aliso Viejo, CA USA

[17] Univ Penn, Div Gastroenterol & Hepatol, Perelman Sch Med, Philadelphia, PA USA

[18] Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria

[19] IFLb Lab Med Berlin GmbH, Berlin Charlottenburg, Windscheidstr, Berlin, Germany

[20] Univ Bonn, Fac Med, Inst Human Genet, Bonn, Germany

[21] Hosp Valle De Hebron, Med Oncol Dept, Hereditary Canc Grp, Barcelona, Spain

[22] Vall Hebron Inst Oncol, Barcelona, Spain

[23] European Reference Network Genet Tumor Risk Syndr, Barcelona, Spain

[24] Ctr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal

[25] Univ Coimbra, Univ Clin Genet, Fac Med, Coimbra, Portugal

[26] Sorbonne Univ, Equipe Instabilite Microsatellites & Canc, Equipe Labellisee La Ligue Canc,SIRIC CURAMUS, UPMC,Univ Paris 06,INSERM,UMRS 938, Paris, France

[27] Sorbonne Univ, Hop St Antoine, AP HP, Lab Danat & Cytol Pathol, Paris, France

[28] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[29] Klinikum Univ Munchen, Med Klin & Poliklin 4, Munich, Germany

[30] Med Genet Zentrum, Munich, Germany

[31] European Reference Network Genet Tumor Risk Syndr, Munich, Germany

[32] Ctr Hosp Univ Sao Joao, Serv Cirurgia, Porto, Portugal

[33] Sinai Hlth Syst, Zane Cohen Ctr, Toronto, ON, Canada

[34] Barretos Canc Hosp, Canc Genet Dept, Barretos, Brazil

[35] Barretos Canc Hosp, Mol Oncol Res Ctr, Barretos, Brazil

[36] Natl Canc Inst, Dept Genet, Rio De Janeiro, Brazil

[37] Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands

[38] Netherlands Canc Inst, Dept Gastrointestinal Oncol, Amsterdam, Netherlands

[39] Sorbonne Univ, Dept Genet Med, Unite Fonct Onco Angiogenet & Genom Tumeurs Solid, Hop Pitie Salpetriere,APHP, Paris, France

[40] i3S Inst Invest Inovacao Saude, Porto, Portugal

[41] IBMC Inst Biol Mol & Celular, Porto, Portugal

[42] Sorbonne Univ, Grp Hosp Pitie Salpetriere, Dept Genet, Unite Fonct Oncogenet Clin,APHP, Paris, France

[43] Sorbonne Univ, Chirurg Gen & Digest, Hop St Antoine, AP HP, Paris, France

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

[45] European Reference Network Genet Tumor Risk Syndr, Munich, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

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：

C27.6

引用

页码：69 / 70

页数：2

共 50 条

[1] CTNNA1 GERMLINE VARIANTS: DISEASE SPECTRUM EXTENDING BEYOND HEREDITARY DIFFUSE GASTRIC CANCER
Lobo, Silvana
Benusiglio, Patrick R.
Coulet, Florence
Boussemart, Lise
Golmard, Lisa
Spier, Isabel
Hueneburg, Robert
Aretz, Stefan
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[J]. MEDICINE, 2023, 102 (13)
[2] Cancer predisposition and germline CTNNA1 variants
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