Terms: = Bone cancer AND MSH2, COCA1, 4436, ENSG00000095002, HNPCC, FCC1, HNPCC1, P43246 AND Diagnosis
14 results:
1. 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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2. 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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3. Successful chemotherapy with continuous immunotherapy for primary pulmonary endovascular epithelioid hemangioendothelioma: A case report.
Guo W; Zhou D; Huang H; Chen H; Wu X; Yang X; Ye H; Hong C
Medicine (Baltimore); 2023 Feb; 102(7):e32914. PubMed ID: 36800635
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4. Bilateral pleural effusion associated with atezolizumab in a patient with Lynch syndrome-related urothelial carcinoma: a case report.
Yhim HY; Jeon SY; Lee CH; Lee NR
Ann Palliat Med; 2022 Jun; 11(6):2162-2169. PubMed ID: 34328007
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5. Frequency of Pathogenic Germline Variants in cancer-Susceptibility Genes in Patients With Osteosarcoma.
Mirabello L; Zhu B; Koster R; Karlins E; Dean M; Yeager M; Gianferante M; Spector LG; Morton LM; Karyadi D; Robison LL; Armstrong GT; Bhatia S; Song L; Pankratz N; Pinheiro M; Gastier-Foster JM; Gorlick R; de Toledo SRC; Petrilli AS; Patino-Garcia A; Lecanda F; Gutierrez-Jimeno M; Serra M; Hattinger C; Picci P; Scotlandi K; Flanagan AM; Tirabosco R; Amary MF; Kurucu N; Ilhan IE; Ballinger ML; Thomas DM; Barkauskas DA; Mejia-Baltodano G; Valverde P; Hicks BD; Zhu B; Wang M; Hutchinson AA; Tucker M; Sampson J; Landi MT; Freedman ND; Gapstur S; Carter B; Hoover RN; Chanock SJ; Savage SA
JAMA Oncol; 2020 May; 6(5):724-734. PubMed ID: 32191290
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6. Recurrent Undifferentiated Carcinoma of the Sella in a Patient with Lynch Syndrome.
Voisin MR; Almeida JP; Perez-Ordonez B; Zadeh G
World Neurosurg; 2019 Dec; 132():219-222. PubMed ID: 31491579
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7. Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome.
Pollinger TH; Kieliszak CR; Logemann N; Gratrix ML
Skinmed; 2017; 15(4):259-264. PubMed ID: 28859734
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8. [Muir-Torre syndrome and Turcot syndrome].
Velter C; Caussade P; Fricker JP; Cribier B
Ann Dermatol Venereol; 2017; 144(8-9):525-529. PubMed ID: 28256262
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9. MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation.
Nguyen A; Bougeard G; Koob M; Chenard MP; Schneider A; Maugard C; Entz-Werle N
Fam Cancer; 2016 Oct; 15(4):571-7. PubMed ID: 27017609
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10. Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome.
Hadravsky L; Kazakov DV; Stehlik J; Michal M; Curik R; Krupa P; Skalova A; Kacerovska D
Am J Dermatopathol; 2016 Aug; 38(8):618-22. PubMed ID: 26779764
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11. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Kansal R; Li X; Shen J; Samuel D; Laningham F; Lee H; Panigrahi GB; Shuen A; Kantarci S; Dorrani N; Reiss J; Shintaku P; Deignan JL; Strom SP; Pearson CE; Vilain E; Grody WW
Genes Chromosomes Cancer; 2016 Feb; 55(2):131-42. PubMed ID: 26542077
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12. Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D; Broderick P; Frampton M; Kinnersley B; Sherborne A; Penegar S; Lloyd A; Ma YP; Dobbins SE; Houlston RS
J Clin Oncol; 2015 Feb; 33(5):426-32. PubMed ID: 25559809
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13. Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.
Dhanraj S; Manji A; Pinto D; Scherer SW; Favre H; Loh ML; Chetty R; Wei AC; Dror Y
Pediatr Blood Cancer; 2013 May; 60(5):754-60. PubMed ID: 23303473
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14. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.
Scott RH; Mansour S; Pritchard-Jones K; Kumar D; MacSweeney F; Rahman N
Nat Clin Pract Oncol; 2007 Feb; 4(2):130-4. PubMed ID: 17259933
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