Terms: = Brain cancer AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5 AND Diagnosis
62 results:
1. [Expression of immune checkpoints PD-L1, CTLA4, LAG3 in the microenvironment of colon adenocarcinoma depending on MMR status].
Naumov SS; Krakhmal NV; Tashireva LA; Vtorushin SV
Arkh Patol; 2024; 86(2):6-13. PubMed ID: 38591901
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2. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB; Aronson M; Fernandez NR; Chang Y; Levine A; Liu ZA; Negm L; Edwards M; Bianchi V; Stengs L; Chung J; Al-Battashi A; Reschke A; Lion A; Ahmad A; Lassaletta A; Reddy AT; Al-Darraji AF; Shah AC; Van Damme A; Bendel A; Rashid A; Margol AS; Kelly BL; Pencheva B; Heald B; Lemieux-Anglin B; Crooks B; Koschmann C; Gilpin C; Porter CC; Gass D; Samuel D; Ziegler DS; Blumenthal DT; Kuo DJ; Hamideh D; Basel D; Khuong-Quang DA; Stearns D; Opocher E; Carceller F; Baris Feldman H; Toledano H; Winer I; Scheers I; Fedorakova I; Su JM; Vengoechea J; Sterba J; Knipstein J; Hansford JR; Gonzales-Santos JR; Bhatia K; Bielamowicz KJ; Minhas K; Nichols KE; Cole KA; Penney L; Hjort MA; Sabel M; Gil-da-Costa MJ; Murray MJ; Miller M; Blundell ML; Massimino M; Al-Hussaini M; Al-Jadiry MF; Comito MA; Osborn M; Link MP; Zapotocky M; Ghalibafian M; Shaheen N; Mushtaq N; Waespe N; Hijiya N; Fuentes-Bolanos N; Ahmad O; Chamdine O; Roy P; Pichurin PN; Nyman P; Pearlman R; Auer RC; Sukumaran RK; Kebudi R; Dvir R; Raphael R; Elhasid R; McGee RB; Chami R; Noss R; Tanaka R; Raskin S; Sen S; Lindhorst S; Perreault S; Caspi S; Riaz S; Constantini S; Albert S; Chaleff S; Bielack S; Chiaravalli S; Cramer SL; Roy S; Cahn S; Penna S; Hamid SA; Ghafoor T; Imam U; Larouche V; Magimairajan Issai V; Foulkes WD; Lee YY; Nathan PC; Maruvka YE; Greer MC; Durno C; Shlien A; Ertl-Wagner B; Villani A; Malkin D; Hawkins C; Bouffet E; Das A; Tabori U
Lancet Oncol; 2024 May; 25(5):668-682. PubMed ID: 38552658
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3. Constitutional Mismatch Repair Deficiency Syndrome as a Cause of Numerous Malignancies in a Teenage Patient-A Case Report.
Samborska M; Galli D; Achkar R; Thambyrajah S; Derwich K
J Pediatr Hematol Oncol; 2023 Oct; 45(7):e917-e920. PubMed ID: 37526375
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4. 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
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5. Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
Mir A; AlMudhry M; AlOtaibi W; AlHazmi R; AlBaradie R; AlHarbi Q; Bashir S; Chamdine O; Housawi Y
J Pediatr Hematol Oncol; 2023 Jul; 45(5):e613-e620. PubMed ID: 36897649
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6. 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
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7. 10-Year-Old Pakistani Boy With Multiple Malignancies: Loss Of Pms2-Constitutional Mismatch Repair Deficiency.
Rehman P; Wali RM
J Ayub Med Coll Abbottabad; 2022; 34(Suppl 1)(3):S727-S729. PubMed ID: 36414603
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8. Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Scollon S; Eldomery MK; Reuther J; Lin FY; Potter SL; Desrosiers L; McClain KL; Smith V; Su JM; Venkatramani R; Hu J; Korchina V; Zarrin-Khameh N; Gibbs RA; Muzny DM; Eng C; Roy A; Parsons DW; Plon SE
Pediatr Blood Cancer; 2022 Nov; 69(11):e29859. PubMed ID: 35713195
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9. Biallelic mismatch repair deficiency - A rare and troublesome genetic syndrome.
Ramos D; Brandão C; Sousa C; Dinis-Ribeiro M
Rev Esp Enferm Dig; 2022 Dec; 114(12):750-751. PubMed ID: 35638754
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10. Early age of onset and broad cancer spectrum persist in msh6- and PMS2-associated Lynch syndrome.
Liu YL; Cadoo KA; Maio A; Patel Z; Kemel Y; Salo-Mullen E; Catchings A; Ranganathan M; Kane S; Soslow R; Ceyhan-Birsoy O; Mandelker D; Carlo MI; Walsh MF; Shia J; Markowitz AJ; Offit K; Stadler ZK; Latham A
Genet Med; 2022 Jun; 24(6):1187-1195. PubMed ID: 35346574
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11. Early Initiation of Temozolomide Therapy May Improve Response in Aggressive Pituitary Adenomas.
Das L; Gupta N; Dutta P; Walia R; Vaiphei K; Rai A; Radotra BD; Gupta K; Sreedharanunni S; Ahuja CK; Bhansali A; Tripathi M; Sood R; Dhandapani S
Front Endocrinol (Lausanne); 2021; 12():774686. PubMed ID: 34975752
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12. Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.
Ando T; Nakajima T; Fukuda R; Nomura K; Niida Y; Sakumura M; Motoo I; Mihara H; Nanjo S; Kajiura S; Fujinami H; Hojo S; Fujii T; Yasuda I
BMC Gastroenterol; 2021 Aug; 21(1):326. PubMed ID: 34425783
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13. 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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14. The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in brain Malignancies from Young Individuals.
Carrato C; Sanz C; Muñoz-Mármol AM; Blanco I; Pineda M; Del Valle J; Dámaso E; Esteller M; Musulen E
Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33924881
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15. Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers.
Evans DG; Lalloo F; Ryan NA; Bowers N; Green K; Woodward ER; Clancy T; Bolton J; McVey RJ; Wallace AJ; Newton K; Hill J; McMahon R; Crosbie EJ
J Med Genet; 2022 Apr; 59(4):328-334. PubMed ID: 33452216
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16. 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
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17. 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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18. Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : msh6 mutation and childhood colorectal cancer - a case series.
Athanasiadis DI; Athanasiadou KI; Voulgaridou A; Zafeiriou DI; Kattamis A; Christodoulou DK; Papakonstantinou E
Acta Gastroenterol Belg; 2020; 83(3):479-481. PubMed ID: 33094597
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19. Diffuse Intratumoral Stromal Inflammation in Ovarian Clear Cell Carcinoma is Associated With Loss of Mismatch Repair Protein and High PD-L1 Expression.
Lin SY; Hang JF; Lin YY; Lai CR; Ho HL; Chou TY
Int J Gynecol Pathol; 2021 Mar; 40(2):148-155. PubMed ID: 32897958
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20. Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.
Gupta A; George R; Aboobacker FN; ThamaraiSelvi B; Priscilla AJ
Pediatr Dermatol; 2020 Nov; 37(6):1139-1141. PubMed ID: 32876971
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