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

被引：42

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 4 条

[1] Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome [J].

Clendenning, Mark ;

Young, Joanne P. ;

Walsh, Michael D. ;

Woodall, Sonja ;

Arnold, Julie ;

Jenkins, Mark ;

Win, Aung Ko ;

Hopper, John L. ;

Sweet, Kevin ;

Gallinger, Steven ;

Rosty, Christophe ;

Parry, Susan ;

Buchanan, Daniel D. .

PLOS ONE, 2013, 8 (06)

[2] Germline Mutations in Oncogene-Induced Senescence Pathways Are Associated With Multiple Sessile Serrated Adenomas [J].

Gala, Manish K. ;

Mizukami, Yusuke ;

Le, Long P. ;

Moriichi, Kentaro ;

Austin, Thomas ;

Yamamoto, Masayoshi ;

Lauwers, Gregory Y. ;

Bardeesy, Nabeel ;

Chung, Daniel C. .

GASTROENTEROLOGY, 2014, 146 (02) :520-+

[3] A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred [J].

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)

[4]

Yan HH, 2016, GUT

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