Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study

被引：40

作者：

Buchanan, Daniel D. ^{[1
,2
]}

Clendenning, Mark ^{[1
]}

Zhuoer, Li ^{[1
]}

Stewart, Jenna R. ^{[1
]}

Joseland, Sharelle ^{[2
]}

Woodall, Sonja ^{[3
]}

Arnold, Julie ^{[3
]}

Semotiuk, Kara ^{[4
]}

Aronson, Melyssa ^{[4
]}

Holter, Spring ^{[4
]}

Gallinger, Steven ^{[5
]}

Jenkins, Mark A. ^{[2
]}

Sweet, Kevin ^{[6
]}

Macrae, Finlay A. ^{[7
,8
,9
]}

Winship, Ingrid M. ^{[7
,8
]}

Parry, Susan ^{[3
]}

Rosty, Christophe ^{[1
,10
,11
]}

机构：

[1] Univ Melbourne, Dept Pathol, Colorectal Oncogen Grp, Genet Epidemiol Lab, Parkville, Vic 3010, Australia

[2] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Parkville, Vic, Australia

[3] New Zealand Familial Gastrointestinal Canc Serv, Auckland, New Zealand

[4] Mt Sinai Hosp, Zane Cohen Ctr Digest Dis, Familial Gastrointestinal Canc Registry, Toronto, ON, Canada

[5] Univ Toronto, Lunenfeld Tanenbaum Res Inst, Mt Sinai Hosp, Toronto, ON, Canada

[6] Ohio State Univ, Med Ctr, Div Human Genet, Columbus, OH 43210 USA

[7] Univ Melbourne, Dept Med, Parkville, Vic, Australia

[8] Royal Melbourne Hosp, Genet Med & Family Canc Clin, Parkville, Vic, Australia

[9] Royal Melbourne Hosp, Dept Colorectal Med & Genet, Parkville, Vic, Australia

[10] Envoi Specialist Pathologists, Herston, Qld, Australia

[11] Univ Queensland, Sch Med, Herston, Qld, Australia

来源：

GUT | 2017年 / 66卷 / 06期

关键词：

D O I：

10.1136/gutjnl-2016-312773

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：1170 / +

页数：3

共 14 条

[1] Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis
Quintana, Isabel
Mejias-Luque, Raquel
Terradas, Mariona
Navarro, Matilde
Pinol, Virginia
Mur, Pilar
Belhadj, Sami
Grau, Elia
Darder, Esther
Solanes, Ares
Brunet, Joan
Capella, Gabriel
Gerhard, Markus
Valle, Laura
GUT, 2018, 67 (12) : 2230 - 2232
[2] Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
Brinch, Heidi Hesselo
Byrjalsen, Anna
Lohse, Zuzana
Rasmussen, Andreas orslev
Karstensen, John Gasdal
Kristiansen, Britta Schlott
Jelsig, Anne Marie
FAMILIAL CANCER, 2025, 24 (01)
[3] Unraveling the oncogenic pathway of serrated polyposis syndrome driven by RNF43 germline mutation
Yan, Helen Hoi Ning
Lai, Jeffrey C. W.
Ho, Siu Lun
Chan, Anthony K. W.
Tsui, Wai Yin
Chan, Annie S. Y.
Yuen, Siu Tsan
Leung, Suet Yi
CANCER RESEARCH, 2017, 77
[4] A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred
Taupin D.
Lam W.
Rangiah D.
McCallum L.
Whittle B.
Zhang Y.
Andrews D.
Field M.
Goodnow C.C.
Cook M.C.
Human Genome Variation, 2 (1)
[5] POLE, POLD1 and RNF43 screening in serrated polyposis syndrome
Soares de Lima, Y.
Arnau-Collell, C.
Diaz-Gay, M.
Munoz, J.
Carballal, S.
Bonjoch, L.
Moreira, L.
Lozano, J.
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Cuatrecasas, M.
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Valle, L.
Moreno, V.
Castellvi-Bel, S.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 551 - 552
[6] RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps
van Herwaarden, Yasmijn J.
Koggel, Lieke M.
Simmer, Femke
Vink-Borger, Elisa M.
Dura, Polat
Meijer, Gerrit A.
Nagengast, Fokko M.
Hoogerbrugge, Nicoline
Bisseling, Tanya M.
Nagtegaal, Iris D.
HISTOPATHOLOGY, 2021, 78 (05) : 749 - 758
[7] Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study
Carballal, Sabela
Rodriguez-Alcalde, Daniel
Moreira, Leticia
Hernandez, Luis
Rodriguez, Lorena
Rodriguez-Moranta, Francisco
Gonzalo, Victoria
Bujanda, Luis
Bessa, Xavier
Poves, Carmen
Cubiella, Joaquin
Castro, Ines
Gonzalez, Mariano
Moya, Eloisa
Oquinena, Susana
Clofent, Joan
Quintero, Enrique
Esteban, Pilar
Pinol, Virginia
Javier Fernandez, Francisco
Jover, Rodrigo
Cid, Lucia
Lopez-Ceron, Maria
Cuatrecasas, Miriam
Lopez-Vicente, Jorge
Liz Leoz, Maria
Rivero-Sanchez, Liseth
Castells, Antoni
Pellise, Maria
Balaguer, Francesc
GUT, 2016, 65 (11) : 1829 - 1837
[8] Colorectal Cancer Risk Factors in Patients With Serrated Polyposis Syndrome: Results From a Multicenter Nation-Wide Study
Carballal, Sabela
Alcalde, Daniel Rodriguez
Lopez-Ceron, Maria
Moreira, Leticia
Leoz, Maria L.
Baiges, Anna
Ocana, Teresa
Cuatrecasas, Miriam
Rivero-Sanchez, Liseth
Bujanda, Luis
Rodriguez-Moranta, Francisco
Alonso, Lorena Rodriguez
Gonzalo, Victoria
Bessa, Xavier
Andreu, Montserrat
Cubiella, Joaquin
Castro, Ines
Morillas, Juan Diego
Oquinena, Susana
Moya, Eloisa
Clofent, Juan
Esteban, Pilar
Ruiz, Mariano Gonzalez-Haba
Barturen, Angel
Fernandez, Francisco Javier
Jover, Rodrigo
Pinol, Virginia
Quintero, Enrique
Hernandez, Vicent
Varela, Maria
Hernandez, Luis
Lopez, Jorge
Pellise, Maria
Castells, Antoni
Balaguer, Francesc
GASTROENTEROLOGY, 2015, 148 (04) : S556 - S557
[9] Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: Results from a European cooperative study
Cetta, F
Montalto, G
Gori, M
Curia, MC
Cama, A
Olschwang, S
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (01): : 286 - 292
[10] Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
Muhammad Usman Rashid
Noor Muhammad
Humaira Naeemi
Faiz Ali Khan
Mariam Hassan
Saima Faisal
Sidra Gull
Asim Amin
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Hereditary Cancer in Clinical Practice, 17

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