Terms: = Brain cancer AND MLH1, COCA2, 4292, ENSG00000076242, hMLH1, FCC2, HNPCC2, P40692, MGC5172, HNPCC AND Diagnosis
70 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. Deficient mismatch repair/microsatellite unstable colorectal cancer: diagnosis, prognosis and treatment.
Taieb J; Svrcek M; Cohen R; Basile D; Tougeron D; Phelip JM
Eur J Cancer; 2022 Nov; 175():136-157. PubMed ID: 36115290
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9. Microsatellite Instability-High Endometrial cancers with mlh1 Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles.
Manning-Geist BL; Liu YL; Devereaux KA; Paula ADC; Zhou QC; Ma W; Selenica P; Ceyhan-Birsoy O; Moukarzel LA; Hoang T; Gordhandas S; Rubinstein MM; Friedman CF; Aghajanian C; Abu-Rustum NR; Stadler ZK; Reis-Filho JS; Iasonos A; Zamarin D; Ellenson LH; Lakhman Y; Mandelker DL; Weigelt B
Clin Cancer Res; 2022 Oct; 28(19):4302-4311. PubMed ID: 35849120
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10. 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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11. 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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12. cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency.
Alim I; Loke J; Yam S; Templeton AS; Newcomb P; Lindor NM; Pai RK; Jenkins MA; Buchanan DD; Gallinger S; Klugman S; Ostrer H
Genet Med; 2022 Sep; 24(9):1821-1830. PubMed ID: 35616648
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13. DNA Mismatch Repair-deficient Rectal cancer Is Frequently Associated With Lynch Syndrome and With Poor Response to Neoadjuvant Therapy.
Farchoukh LF; Celebrezze J; Medich D; Cunningham K; Holder-Murray J; Holtzman M; Lee K; Choudry H; Pai RK
Am J Surg Pathol; 2022 Sep; 46(9):1260-1268. PubMed ID: 35551135
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14. Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the diagnosis and Management of Lynch Syndrome.
Buglyó G; Styk J; Pös O; Csók Á; Repiska V; Soltész B; Szemes T; Nagy B
Int J Mol Sci; 2022 Apr; 23(8):. PubMed ID: 35457101
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15. 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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16. cancer-Predisposition Genetic Analysis in Children with brain Tumors Treated at a Single Institution in Japan.
Fukushima H; Suzuki R; Yamaki Y; Hosaka S; Inaba M; Muroi A; Tsurubuchi T; Morii W; Noguchi E; Takada H
Oncology; 2022; 100(3):163-172. PubMed ID: 34959239
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17. 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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18. 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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19. 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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20. Impact of routine mismatch repair screening on genetic counseling and surgical management in colorectal cancer patients.
Koch KE; Goffredo P; Hrabe JE; Gribovskaja-Rupp I; Snow AN; Bellizzi AM; Kapadia MR
Am J Surg; 2021 Aug; 222(2):408-412. PubMed ID: 33317812
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