Terms: = Gastric cancer AND SMAD4, JIP, Q13485, 4089, ENSG00000141646, MADH4, DPC4 AND Diagnosis
24 results:
1. The c.386A>C p.(Asn129Thr) variant in smad4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.
Valentín F; de Tejada AH; Gonzaléz-Vioque E; García-Simón N; Sánchez A; Romero A
Mol Genet Genomic Med; 2024 Jan; 12(1):e2348. PubMed ID: 38146137
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2. gastric Juvenile Polyposis with Intramucosal cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging.
Utsunomiya H; Akazawa Y; Ueyama H; Iwano T; Yamamoto M; Uchida R; Oki S; Suzuki N; Abe D; Ikeda A; Takeda T; Ueda K; Hojo M; Yube Y; Kaji S; Okano S; Tsuyama S; Eguchi H; Okazaki Y; Arai M; Fukunaga T; Yao T; Nagahara A
Intern Med; 2023 Nov; 62(22):3333-3339. PubMed ID: 37005260
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3. Tumoral Intraductal Neoplasms of the Bile Ducts Comprise Morphologically and Genetically Distinct Entities.
Wang T; Askan G; Ozcan K; Rana S; Zehir A; Bhanot UK; Yantiss RK; Rao DS; Wahl SJ; Bagci P; Balci S; Balachandran V; Jarnagin WR; Adsay NV; Klimstra DS; Basturk O
Arch Pathol Lab Med; 2023 Dec; 147(12):1390-1401. PubMed ID: 36821179
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4. Downregulation of TRIM33 Promotes Survival and Epithelial-Mesenchymal Transition in gastric cancer.
Wang F; Wang W; Wu X; Tang C; Du F; Lu Z; Zhang Z; Xu H; Cao X; Li PA
Technol Cancer Res Treat; 2022; 21():15330338221114505. PubMed ID: 35929141
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5. diagnosis and Management of cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal cancer.
Boland CR; Idos GE; Durno C; Giardiello FM; Anderson JC; Burke CA; Dominitz JA; Gross S; Gupta S; Jacobson BC; Patel SG; Shaukat A; Syngal S; Robertson DJ
Gastroenterology; 2022 Jun; 162(7):2063-2085. PubMed ID: 35487791
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6. diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal cancer.
Boland CR; Idos GE; Durno C; Giardiello FM; Anderson JC; Burke CA; Dominitz JA; Gross S; Gupta S; Jacobson BC; Patel SG; Shaukat A; Syngal S; Robertson DJ
Gastrointest Endosc; 2022 Jun; 95(6):1025-1047. PubMed ID: 35487765
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7. diagnosis and Management of cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal cancer.
Boland CR; Idos GE; Durno C; Giardiello FM; Anderson JC; Burke CA; Dominitz JA; Gross S; Gupta S; Jacobson BC; Patel SG; Shaukat A; Syngal S; Robertson DJ
Am J Gastroenterol; 2022 Jun; 117(6):846-864. PubMed ID: 35471415
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8. Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new smad4 pathogenic variants.
Mafficini A; Brosens LAA; Piredda ML; Conti C; Mattiolo P; Turri G; Mastrosimini MG; Cingarlini S; Crinò SF; Fassan M; Piccoli P; Simbolo M; Nottegar A; Lawlor RT; Guglielmi A; Scarpa A; Pedrazzani C; Luchini C
Fam Cancer; 2022 Oct; 21(4):441-451. PubMed ID: 35075588
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9. smad4 Germline Pathogenic Variant-Related gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report.
Sakurai Y; Kikuchi S; Shigeyasu K; Kakiuchi Y; Tanaka T; Umeda H; Sakamoto M; Takeda S; Yano S; Futagawa M; Kato F; Sogawa R; Yamamoto H; Kuroda S; Kondo Y; Teraishi F; Kishimoto H; Nishizaki M; Kagawa S; Hirasawa A; Fujiwara T
Am J Case Rep; 2021 Jun; 22():e932241. PubMed ID: 34143765
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10. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing
MacFarland SP; Ebrahimzadeh JE; Zelley K; Begum L; Bass LM; Brand RE; Dudley B; Fishman DS; Ganzak A; Karloski E; Latham A; Llor X; Plon S; Riordan MK; Scollon SR; Stadler ZK; Syngal S; Ukaegbu C; Weiss JM; Yurgelun MB; Brodeur GM; Mamula P; Katona BW
Cancer Prev Res (Phila); 2021 Feb; 14(2):215-222. PubMed ID: 33097490
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11. Predicting the difficult laparoscopic cholecystectomy: development and validation of a pre-operative risk score using an objective operative difficulty grading system.
Nassar AHM; Hodson J; Ng HJ; Vohra RS; Katbeh T; Zino S; Griffiths EA;
Surg Endosc; 2020 Oct; 34(10):4549-4561. PubMed ID: 31732855
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12. Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.
Lecoquierre F; Cassinari K; Chambon P; Nicolas G; Malsa S; Marlin R; Assouline Y; Fléjou JF; Frebourg T; Houdayer C; Bera O; Baert-Desurmont S
Eur J Med Genet; 2020 Apr; 63(4):103773. PubMed ID: 31561016
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13. An Update on Inherited Colon cancer and Gastrointestinal Polyposis.
Plevová P
Klin Onkol; 2019; 32(Supplementum2):97-108. PubMed ID: 31409085
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14. gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome.
Schiemer M; Schmitt-Graeff A; Brass V; Hasselblatt P
Z Gastroenterol; 2019 Apr; 57(4):497-500. PubMed ID: 30873576
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15. Genomic Profiling of Small-Bowel Adenocarcinoma.
Schrock AB; Devoe CE; McWilliams R; Sun J; Aparicio T; Stephens PJ; Ross JS; Wilson R; Miller VA; Ali SM; Overman MJ
JAMA Oncol; 2017 Nov; 3(11):1546-1553. PubMed ID: 28617917
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16. Massive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases.
Gonzalez RS; Adsay V; Graham RP; Shroff SG; Feely MM; Drage MG; Lewin DN; Swanson EA; Yantiss RK; Bağci P; Krasinskas AM
Histopathology; 2017 May; 70(6):918-928. PubMed ID: 27991685
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17. Whole-exome sequencing of duodenal adenocarcinoma identifies recurrent Wnt/β-catenin signaling pathway mutations.
Yuan W; Zhang Z; Dai B; Wei Q; Liu J; Liu Y; Liu Y; He L; Zhou D
Cancer; 2016 Jun; 122(11):1689-96. PubMed ID: 26998897
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18. Massive gastric polyposis associated with a germline smad4 gene mutation.
Soer E; de Vos Tot Nederveen Cappel WH; Ligtenberg MJ; Moll F; Pierik RG; Vecht J; Vasen HF; Flierman A
Fam Cancer; 2015 Dec; 14(4):569-73. PubMed ID: 26159157
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19. Reporting tumor molecular heterogeneity in histopathological diagnosis.
Mafficini A; Amato E; Fassan M; Simbolo M; Antonello D; Vicentini C; Scardoni M; Bersani S; Gottardi M; Rusev B; Malpeli G; Corbo V; Barbi S; Sikora KO; Lawlor RT; Tortora G; Scarpa A
PLoS One; 2014; 9(8):e104979. PubMed ID: 25127237
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20. Manifestations of juvenile polyposis syndrome in smad4 mutation carriers of a kindred.
Schwetz V; Uhrig S; Spuller E; Deutschmann A; Högenauer C
Eur J Gastroenterol Hepatol; 2012 Aug; 24(8):988-94. PubMed ID: 22617360
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