Terms: = Germ cell tumor AND MSH2, COCA1, 4436, ENSG00000095002, HNPCC, FCC1, HNPCC1, P43246 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. Clinical, histological, and molecular features of gliomas in adults with neurofibromatosis type 1.
Romo CG; Piotrowski AF; Campian JL; Diarte J; Rodriguez FJ; Bale TA; Dahiya S; Gutmann DH; Lucas CG; Prichett L; Mellinghoff I; Blakeley JO
Neuro Oncol; 2023 Aug; 25(8):1474-1486. PubMed ID: 36840626
[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. Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.
Simic D; Dummer R; Freiberger SN; Ramelyte E; Barysch MJ
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065301
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8. 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
[TBL] [Abstract] [Full Text] [Related]
9. High tumor mutational burden and T-cell activation are associated with long-term response to anti-PD1 therapy in Lynch syndrome recurrent glioblastoma patient.
Anghileri E; Di Ianni N; Paterra R; Langella T; Zhao J; Eoli M; Patanè M; Pollo B; Cuccarini V; Iavarone A; Rabadan R; Finocchiaro G; Pellegatta S
Cancer Immunol Immunother; 2021 Mar; 70(3):831-842. PubMed ID: 33140187
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10. 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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11. 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]
12. 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]
13. 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
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14. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in msh2 and MSH6.
Taeubner J; Wimmer K; Muleris M; Lascols O; Colas C; Fauth C; Brozou T; Felsberg J; Riemer J; Gombert M; Ginzel S; Hoell JI; Borkhardt A; Kuhlen M
Eur J Hum Genet; 2018 Mar; 26(3):440-444. PubMed ID: 29302048
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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. Neuroblastoma survivors are at increased risk for second malignancies: A report from the International Neuroblastoma Risk Group Project.
Applebaum MA; Vaksman Z; Lee SM; Hungate EA; Henderson TO; London WB; Pinto N; Volchenboum SL; Park JR; Naranjo A; Hero B; Pearson AD; Stranger BE; Cohn SL; Diskin SJ
Eur J Cancer; 2017 Feb; 72():177-185. PubMed ID: 28033528
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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. First reported case of a squamous cell carcinoma arising in the duodenum in a patient with Lynch syndrome.
Amjad AI; Singhi AD; Balaban EP; Dudley B; Brand RE; Bahary N
Int J Clin Exp Pathol; 2014; 7(12):8988-95. PubMed ID: 25674277
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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
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20. Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
Everett JN; Raymond VM; Dandapani M; Marvin M; Kohlmann W; Chittenden A; Koeppe E; Gustafson SL; Else T; Fullen DR; Johnson TM; Syngal S; Gruber SB; Stoffel EM
JAMA Dermatol; 2014 Dec; 150(12):1315-21. PubMed ID: 25006859
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