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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

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作者: Li, Jun [1] ; Woods, Susan L. [2] ; Healey, Sue [3] ; Beesley, Jonathan [4] ; Chen, Xiaoqing [5] ; Lee, Jason S. [6] ; Sivakumaran, Haran [7] ; Wayte, Nicci [8] ; Nones, Katia [9] ; Waterfall, Joshua J. [10] ; Pearson, John [11] ; Patch, Anne-Marie [12] ; Senz, Janine [13] ; Ferreira, Manuel A. [14] ; Kaurah, Pardeep [15] ; Mackenzie, Robertson [16] ; Heravi-Moussavi, Alireza [17] ; Hansford, Samantha [18] ; Lannagan, Tamsin R. M. [19] ; Spurdle, Amanda B. [20] ; Simpson, Peter T. [21] ; da Silva, Leonard [22] ; Lakhani, Sunil R. [23] ; Clouston, Andrew D. [24] ; Bettington, Mark [25] ; Grimpen, Florian [26] ; Busuttil, Rita A. [27] ; Di Costanzo, Natasha [28] ; Boussioutas, Alex [29] ; Jeanjean, Marie [30] ; Chong, George [31] ; Fabre, Aurelie [32] ; Olschwang, Sylviane [33] ; Faulkner, Geoffrey J. [34] ; Bellos, Evangelos [35] ; Coin, Lachlan [36] ; Rioux, Kevin ; Bathe, Oliver F. ; Wen, Xiaogang ; Martin, Hilary C. ; Neklason, Deborah W. ; Davis, Sean R. ; Walker, Robert L. ; Calzone, Kathleen A. ; Avital, Itzhak ; Heller, Theo ; Koh, Christopher ; Pineda, Marbin ; Rudloff, Udo ; Quezado, Martha ; Pichurin, Pavel N. ; Hulick, Peter J. ; Weissman, Scott M. ; Newlin, Anna ; Rubinstein, Wendy S. ; Sampson, Jone E. ; Hamman, Kelly ; Goldgar, David ; Poplawski, Nicola ; Phillips, Kerry ; Schofield, Lyn ; Armstrong, Jacqueline ; Kiraly-Borri, Cathy ; Suthers, Graeme K. ; Huntsman, David G. ; Foulkes, William D. ; Carneiro, Fatima ; Lindor, Noralane M. ; Edwards, Stacey L. ; French, Juliet D. ; Waddell, Nicola ; Meltzer, Paul S. ; Worthley, Daniel L. ; Schrader, Kasmintan A. ; Chenevix-Trench, Georgia
作者单位: Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z 4S6, Canada [1] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ 85259 USA [2] Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT 84112 USA [3] British Columbia Canc Res Ctr, Dept Mol Oncol, Vancouver, BC V5Z 1L3, Canada [4] NorthShore Univ HealthSyst, Ctr Med Genet, Evanston, IL 60201 USA [5] NCI, Thorac & Gastrointestinal Oncol Branch, CCR, NIH, Bethesda, MD 20892 USA [6] GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877 USA [7] Univ Queensland, Mater Res Inst, TRI Bldg, Woolloongabba, Qld 4102, Australia [8] NCI, Pathol Lab, CCR, NIH, Bethesda, MD 20892 USA [9] Rutgers State Univ, St Peters Univ Hosp, Dept Surg, New Brunswick, NJ 08901 USA [10] AP HM Timone, Dept Med Genet, F-13385 Marseille, France [11] Peter MacCallum Canc Ctr, Canc Genet & Genom Lab, Locked Bag 1, Melbourne, Vic 8006, Australia [12] King Edward Mem Hosp Women, Genet Serv Western Australia, Subiaco, WA 6008, Australia [13] Univ Porto, Inst Mol Pathol & Immunol, IPATIMUP Inst Invest & Inovacao Saude, P-4200135 Oporto [14] Univ Queensland, Inst Mol Biosci, St Lucia, Qld 4072, Australia [15] Univ Queensland, UQ Ctr Clin Res, Brisbane, Qld 4029, Australia [16] Univ Queensland, Sch Med, Brisbane, Qld 4006, Australia [17] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6T 2B5, Canada [18] Womens & Childrens Hosp, Adult Genet Unit, SA Pathol, Adelaide, SA 5006, Australia [19] Royal Brisbane & Womens Hosp, Dept Gastroenterol, Brisbane, Qld 4006, Australia [20] Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA [21] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada [22] Ctr Human Genet, Wellcome Trust, Oxford OX3 7BN, England [23] Univ Utah, Huntsman Canc Inst, Dept Internal Med, Salt Lake City, UT 84112 USA [24] Univ Queensland, Ctr Liver Dis Res, TRI Bldg, Woolloongabba, Qld 4102, Australia [25] Jewish Gen Hosp, Segal Canc Ctr, Lady Davis Inst, Montreal, PQ H3T 1E2, Canada [26] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA [27] NIDDK, Liver Dis Branch, NIH, Bethesda, MD 20892 USA [28] QIMR Berghofer, Dept Genet & Computat Biol, Herston, Qld 4029, Australia [29] McGill Univ, Jewish Gen Hosp, Dept Pathol, Mol Pathol Ctr, Montreal, PQ H3T 1E2, Canada [30] Univ Calgary, Dept Surg, Calgary, AB T2N 4N1, Canada [31] NCI, Genet Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA [32] NIH, NCBI, Natl Lib Med, Bethesda, MD 20892 USA [33] Univ Adelaide & Canc Theme, Sch Med, SAHMRI, Adelaide, SA 5000, Australia [34] Univ Calgary, Dept Med, Dept Microbiol & Infect Dis, Div Gastroenterol,Gastrointestinal Res Grp [35] Univ Adelaide, Univ Dept Paediat, Adelaide, SA 5005, Australia [36]
发布时间 2017-04-05
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The American Journal of Human Genetics

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