Terms: = Colorectal cancer AND POLE, POLE1, 5426, FLJ21434, DKFZp434F222, ENSG00000177084 AND Diagnosis
32 results:
1. Multiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in pole variant.
Miyazaki H; Dohi O; Maeda E; Tomioka A; Yoshida N; Morinaga Y; Itoh Y; Ishikawa H
Clin J Gastroenterol; 2024 Jun; 17(3):425-428. PubMed ID: 38386255
[TBL] [Abstract] [Full Text] [Related]
2. pole-Mutant Colon Adenocarcinoma-Case Presentation and Histopathological Evaluation.
Pancsa T; Vasas B; Melegh Z; Tóth E; Torday L; Sejben A
J Gastrointest Cancer; 2024 Jun; 55(2):961-964. PubMed ID: 38175383
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3. [Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma].
Liu Y; Wang YX; Sun XJ; Ting X; Wu R; Liu XD; Liu CR
Zhonghua Fu Chan Ke Za Zhi; 2023 Oct; 58(10):755-765. PubMed ID: 37849256
[No Abstract] [Full Text] [Related]
4. Lynch syndrome: influence of additional susceptibility variants on cancer risk.
Vibert R; Hasnaoui J; Perrier A; Lefebvre A; Colas C; Dhooge M; Basset N; Chansavang A; Desseignes C; Duval A; Farelly S; Hamzaoui N; Laurent-Puig P; Metras J; Moliere D; Muleris M; Netter J; Touat M; Bielle F; Labreche K; Nicolle R; Perkins G; Warcoin M; Coulet F; Benusiglio PR
Eur J Hum Genet; 2023 Sep; 31(9):1078-1082. PubMed ID: 37088804
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5. [diagnosis OF GENETIC VARIANT CARRIERS IN A PATIENT WITH ASYMPTOMATIC BIRT-HOGG-DUBÉ SYNDROME: A CASE REPORT].
Watari S; Ichikawa T; Hirasawa A; Shiraishi H; Tokunaga M; Kubota R; Kusumi N; Tsushima T; Shinno Y; Furuya M
Nihon Hinyokika Gakkai Zasshi; 2023; 114(2):61-65. PubMed ID: 38644188
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6. Germline variant testing in serrated polyposis syndrome.
Murphy A; Solomons J; Risby P; Gabriel J; Bedenham T; Johnson M; Atkinson N; Bailey AA; Bird-Lieberman E; Leedham SJ; East JE; Biswas S
J Gastroenterol Hepatol; 2022 May; 37(5):861-869. PubMed ID: 35128723
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7. Clinical and epigenetic features of colorectal cancer patients with somatic pole proofreading mutations.
Kawai T; Nyuya A; Mori Y; Tanaka T; Tanioka H; Yasui K; Toshima T; Taniguchi F; Shigeyasu K; Umeda Y; Fujiwara T; Okawaki M; Yamaguchi Y; Goel A; Nagasaka T
Clin Epigenetics; 2021 May; 13(1):117. PubMed ID: 34034807
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8. Somatic pole exonuclease domain mutations elicit enhanced intratumoral immune responses in stage II colorectal cancer.
Mo S; Ma X; Li Y; Zhang L; Hou T; Han-Zhang H; Qian J; Cai S; Huang D; Peng J
J Immunother Cancer; 2020 Aug; 8(2):. PubMed ID: 32859741
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9. Clinical, Pathology, Genetic, and Molecular Features of colorectal Tumors in Adolescents and Adults 25 Years or Younger.
de Voer RM; Diets IJ; van der Post RS; Weren RDA; Kamping EJ; de Bitter TJJ; Elze L; Verhoeven RHA; Vink-Börger E; Eijkelenboom A; Mensenkamp A; Nagtegaal ID; Jongmans MCJ; Ligtenberg MJL
Clin Gastroenterol Hepatol; 2021 Aug; 19(8):1642-1651.e8. PubMed ID: 32585361
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10. Molecular Genetic Features of Primary Nonurachal Enteric-type Adenocarcinoma, Urachal Adenocarcinoma, Mucinous Adenocarcinoma, and Intestinal Metaplasia/Adenoma: Review of the Literature and Next-generation Sequencing Study.
Pires-Luis AS; Martinek P; Alaghehbandan R; Trpkov K; Comperat EM; Perez Montiel DM; Bulimbasic S; Lobo J; Henrique R; Vanecek T; Pivovarcikova K; Michalova K; Pitra T; Hora M; Marques A; Lopes JM; Rogala J; Mareckova J; Michal M; Hes O
Adv Anat Pathol; 2020 Sep; 27(5):303-310. PubMed ID: 32520749
[TBL] [Abstract] [Full Text] [Related]
11. A Phase II Study of Avelumab Monotherapy in Patients with Mismatch Repair-Deficient/Microsatellite Instability-High or pole-Mutated Metastatic or Unresectable colorectal cancer.
Kim JH; Kim SY; Baek JY; Cha YJ; Ahn JB; Kim HS; Lee KW; Kim JW; Kim TY; Chang WJ; Park JO; Kim J; Kim JE; Hong YS; Kim YH; Kim TW
Cancer Res Treat; 2020 Oct; 52(4):1135-1144. PubMed ID: 32340084
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12. Germline
Lindsay H; Scollon S; Reuther J; Voicu H; Rednam SP; Lin FY; Fisher KE; Chintagumpala M; Adesina AM; Parsons DW; Plon SE; Roy A
Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31624068
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13. Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome.
Yang C; Austin F; Richard H; Idowu M; Williamson V; Sabato F; Ferreira-Gonzalez A; Turner SA
Cold Spring Harb Mol Case Stud; 2019 Oct; 5(5):. PubMed ID: 31604779
[TBL] [Abstract] [Full Text] [Related]
14. Novel candidates in early-onset familial colorectal cancer.
Jansen AML; Ghosh P; Dakal TC; Slavin TP; Boland CR; Goel A
Fam Cancer; 2020 Jan; 19(1):1-10. PubMed ID: 31555933
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15. 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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16. Suspected Hereditary cancer Syndromes in Young Patients: Heterogeneous Clinical and Genetic Presentation of colorectal cancers.
Maletzki C; Hühns M; Bauer I; Prall F; Junghanss C; Henze L
Oncologist; 2019 Jul; 24(7):877-882. PubMed ID: 30683709
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17. Novel pole pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
Castellsagué E; Li R; Aligue R; González S; Sanz J; Martin E; Velasco À; Capellá G; Stewart CJR; Vidal A; Majewski J; Rivera B; Polak P; Matias-Guiu X; Brunet J; Foulkes WD
Hum Mutat; 2019 Jan; 40(1):36-41. PubMed ID: 30362666
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18. Lack of APC somatic mutation is associated with early-onset colorectal cancer in African Americans.
Xicola RM; Manojlovic Z; Augustus GJ; Kupfer SS; Emmadi R; Alagiozian-Angelova V; Triche T; Salhia B; Carpten J; Llor X; Ellis NA
Carcinogenesis; 2018 Dec; 39(11):1331-1341. PubMed ID: 30239619
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19. POLD1 and pole Gene Mutations in Jewish Cohorts of Early-Onset colorectal cancer and of Multiple colorectal Adenomas.
Rosner G; Gluck N; Carmi S; Bercovich D; Fliss-Issakov N; Ben-Yehoyada M; Aharon-Caspi S; Kellerman E; Strul H; Shibolet O; Kariv R
Dis Colon Rectum; 2018 Sep; 61(9):1073-1079. PubMed ID: 30086056
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20. Massively parallel sequencing analysis of mucinous ovarian carcinomas: genomic profiling and differential diagnoses.
Mueller JJ; Schlappe BA; Kumar R; Olvera N; Dao F; Abu-Rustum N; Aghajanian C; DeLair D; Hussein YR; Soslow RA; Levine DA; Weigelt B
Gynecol Oncol; 2018 Jul; 150(1):127-135. PubMed ID: 29793804
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