Germline Mutation in MSH6 Associated With Multiple Malignant Neoplasms in a Patient With Muir-Torre Syndrome

被引：10

作者：

Tavakkol, Zarry ^{[1
]}

Keller, Jesse J. ^{[1
]}

Furmanczyk, Paul S. ^{[1
]}

Bennett, Robin L. ^{[1
]}

Chien, Andy J. ^{[1
]}

机构：

[1] Univ Washington, Seattle, WA 98195 USA

来源：

JOURNAL OF CLINICAL ONCOLOGY | 2012年 / 30卷 / 22期

基金：

美国国家卫生研究院;

关键词：

NONPOLYPOSIS COLORECTAL-CANCER; LYNCH-SYNDROME; MICROSATELLITE INSTABILITY; HEREDITARY; CARRIERS; PHENOTYPE; GENOTYPE; TUMORS; GENES; RISKS;

D O I：

10.1200/JCO.2011.41.5562

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

[No abstract available]

引用

页码：E195 / E198

页数：4

共 20 条

[1] Novel biallelic mutations in MSH6 and PMS2 genes:: Gene conversion as a likely cause of PMS2 gene inactivation [J].

Auclair, Jessie ;

Leroux, Dominique ;

Desseigne, Françoise ;

Lasset, Christine ;

Saurin, Jean Christophe ;

Joly, Marie Odile ;

Pinson, Stéphane ;

Xu, Xiao Li ;

Montmain, Gilles ;

Ruano, Eric ;

Navarro, Claudine ;

Puisieux, Alain ;

Wang, Qing .

HUMAN MUTATION, 2007, 28 (11) :1084-1090

[2] Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers [J].

Baglietto, Laura ;

Lindor, Noralane M. ;

Dowty, James G. ;

White, Darren M. ;

Wagner, Anja ;

Garcia, Encarna B. Gomez ;

Vriends, Annette H. J. T. ;

Cartwright, Nicola R. ;

Barnetson, Rebecca A. ;

Farrington, Susan M. ;

Tenesa, Albert ;

Hampel, Heather ;

Buchanan, Daniel ;

Arnold, Sven ;

Young, Joanne ;

Walsh, Michael D. ;

Jass, Jeremy ;

Macrae, Finlay ;

Antill, Yoland ;

Winship, Ingrid M. ;

Giles, Graham G. ;

Goldblatt, Jack ;

Parry, Susan ;

Suthers, Graeme ;

Leggett, Barbara ;

Butz, Malinda ;

Aronson, Melyssa ;

Poynter, Jenny N. ;

Baron, John A. ;

Le Marchand, Loic ;

Haile, Robert ;

Gallinger, Steve ;

Hopper, John L. ;

Potter, John ;

de la Chapelle, Albert ;

Vasen, Hans F. ;

Dunlop, Malcolm G. ;

Thibodeau, Stephen N. ;

Jenkins, Mark A. .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2010, 102 (03) :193-201

[3] Colorectal Cancer Due to Deficiency in DNA Mismatch Repair Function A Review [J].

Bellizzi, Andrew M. ;

Frankel, Wendy L. .

ADVANCES IN ANATOMIC PATHOLOGY, 2009, 16 (06) :405-417

[4] Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome [J].

Bonadona, Valerie ;

Bonaiti, Bernard ;

Olschwang, Sylviane ;

Grandjouan, Sophie ;

Huiart, Laetitia ;

Longy, Michel ;

Guimbaud, Rosine ;

Buecher, Bruno ;

Bignon, Yves-Jean ;

Caron, Olivier ;

Colas, Chrystelle ;

Nogues, Catherine ;

Lejeune-Dumoulin, Sophie ;

Olivier-Faivre, Laurence ;

Polycarpe-Osaer, Florence ;

Nguyen, Tan Dat ;

Desseigne, Francoise ;

Saurin, Jean-Christophe ;

Berthet, Pascaline ;

Leroux, Dominique ;

Duffour, Jacqueline ;

Manouvrier, Sylvie ;

Frebourg, Thierry ;

Sobol, Hagay ;

Lasset, Christine ;

Bonaiti-Pellie, Catherine .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2011, 305 (22) :2304-2310

[5]

COHEN PR, 1991, AM J MED, V90, P606

[6] MUIR-TORRE SYNDROME IN PATIENTS WITH HEMATOLOGIC MALIGNANCIES [J].

COHEN, PR .

AMERICAN JOURNAL OF HEMATOLOGY, 1992, 40 (01) :64-65

[7] Mutation in the mismatch repair gene Msh6 causes cancer susceptibility [J].

Edelmann, W ;

Yang, K ;

Umar, A ;

Heyer, J ;

Lau, K ;

Fan, KH ;

Liedtke, W ;

Cohen, PE ;

Kane, MF ;

Lipford, JR ;

Yu, NJ ;

Crouse, GF ;

Pollard, JW ;

Kunkel, T ;

Lipkin, M ;

Kolodner, R ;

Kucherlapati, R .

CELL, 1997, 91 (04) :467-477

[8]

HONCHEL R, 1994, CANCER RES, V54, P1159

[9] Recently identified colon cancer predispositions:: MYH and MSH6 mutations [J].

Kastrinos, Fay ;

Syngal, Sapna .

SEMINARS IN ONCOLOGY, 2007, 34 (05) :418-424

[10] DIFFERENTIAL-DIAGNOSIS OF HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER (LYNCH-SYNDROME-I AND LYNCH-SYNDROME-II) [J].

LYNCH, HT ;

WATSON, P ;

KRIEGLER, M ;

LYNCH, JF ;

LANSPA, SJ ;

MARCUS, J ;

SMYRK, T ;

FITZGIBBONS, RJ ;

CRISTOFARO, G .

DISEASES OF THE COLON & RECTUM, 1988, 31 (05) :372-377

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