Terms: = Germ cell tumor AND MLH1, COCA2, 4292, ENSG00000076242, hMLH1, FCC2, HNPCC2, P40692, MGC5172, HNPCC AND Diagnosis
48 results:
1. Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.
Benusiglio PR; Elder F; Touat M; Perrier A; Sanson M; Colas C; Guerrini-Rousseau L; Tran DT; Trabelsi N; Carpentier C; Marie Y; Adam C; Bernier M; Cazals-Hatem D; Mokhtari K; Tran S; Mathon B; Capelle L; Dhooge M; Idbaih A; Alentorn A; Houillier C; Dehais C; Hoang-Xuan K; Cuzzubbo S; Carpentier A; Duval A; Coulet F; Bielle F
JCO Precis Oncol; 2023 May; 7():e2200525. PubMed ID: 37262394
[TBL] [Abstract] [Full Text] [Related]
2. Cerebral developmental venous anomalies in children with mismatch repair deficiency.
Kara B; Paksoy Y; Çağlayan AO; Seher N; Akbaş H; Köksal Y
Turk J Pediatr; 2022; 64(6):1106-1116. PubMed ID: 36583892
[TBL] [Abstract] [Full Text] [Related]
3. Pancreatic medullary carcinoma developed on a pancreatic intraductal papillary mucinous neoplasm with loss of MSH2 and MSH6 expression: a case report.
Verocq C; Racu ML; Bafort D; Butorano G; Perez-Casanova Garcia L; Navez J; Witterwulghe M; Sheahan K; Swan N; Closset J; Van Laethem JL; Maris C; D'Haene N
Diagn Pathol; 2021 Dec; 16(1):117. PubMed ID: 34895278
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4. Integrating tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers.
Dixon K; Asrat MJ; Bedard AC; Binnington K; Compton K; Cremin C; Heidary N; Lohn Z; Lovick N; McCullum M; Mindlin A; O'Loughlin M; Petersen T; Portigal-Todd C; Scott J; St-Martin G; Thompson J; Turnbull R; Mung SW; Hong Q; Bezeau M; Bosdet I; Tucker T; Young S; Yip S; Aubertin G; Blood KA; Nuk J; Sun S; Schrader KA
Clin Transl Gastroenterol; 2021 Aug; 12(8):e00397. PubMed ID: 34397043
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5. Mismatch repair proteins immunohistochemical null phenotype in colon medullary carcinoma.
Tatsuta K; Sakata M; Iwaizumi M; Shinmura K; Akai T; Kawamura T; Torii K; Morita Y; Kikuchi H; Hiramatsu Y; Fukazawa A; Kurachi K; Takeuchi H
Clin J Gastroenterol; 2021 Oct; 14(5):1448-1452. PubMed ID: 34279804
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6. Immunohistochemical screening for mismatch repair protein deficiency in paediatric high-grade gliomas - institutional experience and review of literature.
Alphones S; Chatterjee U; Singh A; Das A; Zameer L; Achari R; Bhattacharya A; Roy P
Childs Nerv Syst; 2021 Aug; 37(8):2521-2530. PubMed ID: 34097097
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7. Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis.
Suwala AK; Stichel D; Schrimpf D; Kloor M; Wefers AK; Reinhardt A; Maas SLN; Kratz CP; Schweizer L; Hasselblatt M; Snuderl M; Abedalthagafi MSJ; Abdullaev Z; Monoranu CM; Bergmann M; Pekrun A; Freyschlag C; Aronica E; Kramm CM; Hinz F; Sievers P; Korshunov A; Kool M; Pfister SM; Sturm D; Jones DTW; Wick W; Unterberg A; Hartmann C; Dodgshun A; Tabori U; Wesseling P; Sahm F; von Deimling A; Reuss DE
Acta Neuropathol; 2021 Jan; 141(1):85-100. PubMed ID: 33216206
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8. Clinical implications of mismatch repair deficiency screening in patients with mixed neuroendocrine non-neuroendocrine neoplasms (MiNEN).
Lou L; Lv F; Wu X; Li Y; Zhang X
Eur J Surg Oncol; 2021 Feb; 47(2):323-330. PubMed ID: 32907775
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9. [A Case of Medullary Carcinoma of the Colon with Poor Prognosis].
Tamai K; Okamura S; Kitahara T; Minoji T; Takabatake H; Watanabe N; Yamamura N; Fukuchi N; Ebisui C; Yokouchi H; Kinuta M; Ohishi K
Gan To Kagaku Ryoho; 2020 Apr; 47(4):637-639. PubMed ID: 32389968
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10. Long Survival and Prolonged Remission after Surgery and Chemotherapy in a Metastatic Mismatch Repair Deficient Pancreatic Neuroendocrine Carcinoma with mlh1/PMS2 Immunodeficiency and Minimal Microsatellite Shift.
Vanoli A; Perfetti V; Furlan D; Neri G; Viglio A; Sessa F; Martino M; Di Sabatino A; Solcia E; La Rosa S
Endocr Pathol; 2020 Dec; 31(4):411-417. PubMed ID: 32388775
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11. Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Abdel-Rahman MH; Sample KM; Pilarski R; Walsh T; Grosel T; Kinnamon D; Boru G; Massengill JB; Schoenfield L; Kelly B; Gordon D; Johansson P; DeBenedictis MJ; Singh A; Casadei S; Davidorf FH; White P; Stacey AW; Scarth J; Fewings E; Tischkowitz M; King MC; Hayward NK; Cebulla CM
Ophthalmology; 2020 May; 127(5):668-678. PubMed ID: 32081490
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12. mlh1 promoter hypermethylation: are you absolutely sure about the absence of mlh1 germline mutation? About a new case.
Kientz C; Prieur F; Clemenson A; Joly MO; Stachowicz ML; Auclair J; Attignon V; Schiappa R; Wang Q
Fam Cancer; 2020 Jan; 19(1):11-14. PubMed ID: 31745674
[TBL] [Abstract] [Full Text] [Related]
13. Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the mlh1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Bouvet D; Bodo S; Munier A; Guillerm E; Bertrand R; Colas C; Duval A; Coulet F; Muleris M
Gastroenterology; 2019 Aug; 157(2):421-431. PubMed ID: 30998989
[TBL] [Abstract] [Full Text] [Related]
14. Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.
AlHarbi M; Ali Mobark N; AlMubarak L; Aljelaify R; AlSaeed M; Almutairi A; Alqubaishi F; Hussain ME; Balbaid AAO; Said Marie A; AlSubaie L; AlShieban S; alTassan N; Ramkissoon SH; Abedalthagafi M
Oncologist; 2018 Dec; 23(12):1401-1406. PubMed ID: 30104292
[TBL] [Abstract] [Full Text] [Related]
15. Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.
Dillon JL; Gonzalez JL; DeMars L; Bloch KJ; Tafe LJ
Hum Pathol; 2017 Dec; 70():121-128. PubMed ID: 29107668
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16. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
Couch FJ; Shimelis H; Hu C; Hart SN; Polley EC; Na J; Hallberg E; Moore R; Thomas A; Lilyquist J; Feng B; McFarland R; Pesaran T; Huether R; LaDuca H; Chao EC; Goldgar DE; Dolinsky JS
JAMA Oncol; 2017 Sep; 3(9):1190-1196. PubMed ID: 28418444
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17. Neuroendocrine Carcinoma of the Endometrium: A Clinicopathologic Study of 25 Cases.
Pocrnich CE; Ramalingam P; Euscher ED; Malpica A
Am J Surg Pathol; 2016 May; 40(5):577-86. PubMed ID: 26945341
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18. Medullary carcinoma of the colon: can the undifferentiated be differentiated?
Fiehn AM; Grauslund M; Glenthøj A; Melchior LC; Vainer B; Willemoe GL
Virchows Arch; 2015 Jan; 466(1):13-20. PubMed ID: 25339302
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19. [Pathologic analysis of upper tract urothelial carcinomas: state of the art review for the yearly scientific report of the French National Association of Urology].
Varinot J; Colin P; Rouprêt M; Leroy X; Comperat E
Prog Urol; 2014 Nov; 24(15):954-65. PubMed ID: 25199727
[TBL] [Abstract] [Full Text] [Related]
20. Carcinogenic mechanisms of endometrial cancer: involvement of genetics and epigenetics.
Banno K; Yanokura M; Iida M; Masuda K; Aoki D
J Obstet Gynaecol Res; 2014 Aug; 40(8):1957-67. PubMed ID: 25131761
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