Terms: = Germ cell tumor AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5 AND Diagnosis
33 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. germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.
Riechelmann RP; Donadio MDS; Jesus VHF; de Carvalho NA; Santiago KM; Barros MJ; Lopes L; Oliveira Dos Santos G; Nirvana Formiga M; Carraro DM; Torrezan GT
Endocr Relat Cancer; 2023 Jun; 30(6):. PubMed ID: 36947458
[TBL] [Abstract] [Full Text] [Related]
3. Long-term response to camrelizumab in a pretreated metastatic mixed testicular germ-cell tumor patient with co-mutations in DNA damage-repair genes.
Zhang H; Jiang D; Meng E; Zhao M; Niu B
Immunotherapy; 2023 Jan; 15(1):17-25. PubMed ID: 36647794
[TBL] [Abstract] [Full Text] [Related]
4. 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]
5. 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
[TBL] [Abstract] [Full Text] [Related]
6. 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
[TBL] [Abstract] [Full Text] [Related]
7. 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
[TBL] [Abstract] [Full Text] [Related]
8. Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Chhabda S; Sudhakar S; Mankad K; Jorgensen M; Carceller F; Jacques TS; Merve A; Aizpurua M; Chalker J; Garimberti E; D'Arco F
Childs Nerv Syst; 2021 Jul; 37(7):2375-2379. PubMed ID: 33247381
[TBL] [Abstract] [Full Text] [Related]
9. 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]
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
[TBL] [Abstract] [Full Text] [Related]
11. germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
[TBL] [Abstract] [Full Text] [Related]
12. 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
[TBL] [Abstract] [Full Text] [Related]
13. 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]
14. 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]
15. Malignant phyllodes tumor in Lynch syndrome: a case report.
Kazmi S; Wagner S; Heintzelman R; Corbman M
J Med Case Rep; 2019 Jul; 13(1):216. PubMed ID: 31307558
[TBL] [Abstract] [Full Text] [Related]
16. Genetic, Epigenetic, and Immunologic Profiling of MMR-Deficient Relapsed Glioblastoma.
Indraccolo S; Lombardi G; Fassan M; Pasqualini L; Giunco S; Marcato R; Gasparini A; Candiotto C; Nalio S; Fiduccia P; Fanelli GN; Pambuku A; Della Puppa A; D'Avella D; Bonaldi L; Gardiman MP; Bertorelle R; De Rossi A; Zagonel V
Clin Cancer Res; 2019 Mar; 25(6):1828-1837. PubMed ID: 30514778
[TBL] [Abstract] [Full Text] [Related]
17. A novel infram deletion in msh6 gene in glioma: Conversation on msh6 mutations in brain tumors.
Deris Zayeri Z; Tahmasebi Birgani M; Mohammadi Asl J; Kashipazha D; Hajjari M
J Cell Physiol; 2019 Jul; 234(7):11092-11102. PubMed ID: 30478893
[TBL] [Abstract] [Full Text] [Related]
18. 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]
19. Metachronous Medulloblastoma in a Child With Successfully Treated Neuroblastoma: Case Report and Novel Findings of DNA Sequencing.
Eterovic AK; Maher OM; Chandra J; Chen K; Huse J; Zaky W
J Natl Compr Canc Netw; 2018 Jun; 16(6):683-691. PubMed ID: 29891519
[TBL] [Abstract] [Full Text] [Related]
20. Up-regulation of msh6 is associated with temozolomide resistance in human glioblastoma.
Sun Q; Pei C; Li Q; Dong T; Dong Y; Xing W; Zhou P; Gong Y; Zhen Z; Gao Y; Xiao Y; Su J; Ren H
Biochem Biophys Res Commun; 2018 Feb; 496(4):1040-1046. PubMed ID: 29366782
[TBL] [Abstract] [Full Text] [Related]
[Next]
