Terms: = Leukemia AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5 AND Diagnosis
15 results:
1. Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.
Fernández-Castillejo S; Roig B; Melé M; Serrano S; Salvat M; Querol M; Brunet J; Pineda M; Cisneros A; Parada D; Badia J; Borràs J; Rodríguez-Balada M; Gumà J
J Med Genet; 2023 Dec; 61(1):69-77. PubMed ID: 37591735
[TBL] [Abstract] [Full Text] [Related]
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
[TBL] [Abstract] [Full Text] [Related]
3. 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
[TBL] [Abstract] [Full Text] [Related]
4. Tuberous sclerosis complex: a complex case.
Powell RM; Pattison S; Moravec JC; Bhat B; Guirguis N; Markie D; Jones GT; Copedo J; Print CG; Morison IM; Gavryushkin A; Gray B; Wyeth LJ; Eccles MR; Macaulay EC
Cold Spring Harb Mol Case Stud; 2022 Apr; 8(3):. PubMed ID: 35483879
[TBL] [Abstract] [Full Text] [Related]
5. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Zeng C; Bastarache LA; Tao R; Venner E; Hebbring S; Andujar JD; Bland ST; Crosslin DR; Pratap S; Cooley A; Pacheco JA; Christensen KD; Perez E; Zawatsky CLB; Witkowski L; Zouk H; Weng C; Leppig KA; Sleiman PMA; Hakonarson H; Williams MS; Luo Y; Jarvik GP; Green RC; Chung WK; Gharavi AG; Lennon NJ; Rehm HL; Gibbs RA; Peterson JF; Roden DM; Wiesner GL; Denny JC
JAMA Oncol; 2022 Jun; 8(6):835-844. PubMed ID: 35446370
[TBL] [Abstract] [Full Text] [Related]
6. 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
[TBL] [Abstract] [Full Text] [Related]
7. Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.
Li B; Brady SW; Ma X; Shen S; Zhang Y; Li Y; Szlachta K; Dong L; Liu Y; Yang F; Wang N; Flasch DA; Myers MA; Mulder HL; Ding L; Liu Y; Tian L; Hagiwara K; Xu K; Zhou X; Sioson E; Wang T; Yang L; Zhao J; Zhang H; Shao Y; Sun H; Sun L; Cai J; Sun HY; Lin TN; Du L; Li H; Rusch M; Edmonson MN; Easton J; Zhu X; Zhang J; Cheng C; Raphael BJ; Tang J; Downing JR; Alexandrov LB; Zhou BS; Pui CH; Yang JJ; Zhang J
Blood; 2020 Jan; 135(1):41-55. PubMed ID: 31697823
[TBL] [Abstract] [Full Text] [Related]
8. Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P; Kunz JB; Hof J; Zimmermann M; Rausch T; Bandapalli OR; Orlova E; Scapinello G; Sagi JC; Stanulla M; Schrappe M; Cario G; Kirschner-Schwabe R; Eckert C; Benes V; Korbel JO; Muckenthaler MU; Kulozik AE
Blood Cancer J; 2017 Feb; 7(2):e523. PubMed ID: 28157215
[TBL] [Abstract] [Full Text] [Related]
9. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
Ripperger T; Schlegelberger B
Eur J Med Genet; 2016 Mar; 59(3):133-42. PubMed ID: 26743104
[TBL] [Abstract] [Full Text] [Related]
10. diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Bodo S; Colas C; Buhard O; Collura A; Tinat J; Lavoine N; Guilloux A; Chalastanis A; Lafitte P; Coulet F; Buisine MP; Ilencikova D; Ruiz-Ponte C; Kinzel M; Grandjouan S; Brems H; Lejeune S; Blanché H; Wang Q; Caron O; Cabaret O; Svrcek M; Vidaud D; Parfait B; Verloes A; Knappe UJ; Soubrier F; Mortemousque I; Leis A; Auclair-Perrossier J; Frébourg T; Fléjou JF; Entz-Werle N; Leclerc J; Malka D; Cohen-Haguenauer O; Goldberg Y; Gerdes AM; Fedhila F; Mathieu-Dramard M; Hamelin R; Wafaa B; Gauthier-Villars M; Bourdeaut F; Sheridan E; Vasen H; Brugières L; Wimmer K; Muleris M; Duval A;
Gastroenterology; 2015 Oct; 149(4):1017-29.e3. PubMed ID: 26116798
[TBL] [Abstract] [Full Text] [Related]
11. Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.
Mar BG; Bullinger LB; McLean KM; Grauman PV; Harris MH; Stevenson K; Neuberg DS; Sinha AU; Sallan SE; Silverman LB; Kung AL; Lo Nigro L; Ebert BL; Armstrong SA
Nat Commun; 2014 Mar; 5():3469. PubMed ID: 24662245
[TBL] [Abstract] [Full Text] [Related]
12. Genome-wide copy number profiling reveals molecular evolution from diagnosis to relapse in childhood acute lymphoblastic leukemia.
Yang JJ; Bhojwani D; Yang W; Cai X; Stocco G; Crews K; Wang J; Morrison D; Devidas M; Hunger SP; Willman CL; Raetz EA; Pui CH; Evans WE; Relling MV; Carroll WL
Blood; 2008 Nov; 112(10):4178-83. PubMed ID: 18768390
[TBL] [Abstract] [Full Text] [Related]
13. [A study to determine the safety and efficacy of imatinib mesylate in patients with chronic phase of chronic myeloid leukemia after interferon therapy failure. Four year follow-up].
Hołowiecki J; Konopka L; Bober G; Giebel S; Ceglarek B; Kos K; Stella-Hołowiecka B; Kruzel T; Kopera M; Bartkowska-Chrobok A; Pszenna E; Sikorska A; Pieńikowska-Grela B
Pol Arch Med Wewn; 2006 Jun; 115(6):535-44. PubMed ID: 17263225
[TBL] [Abstract] [Full Text] [Related]
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
[TBL] [Abstract] [Full Text] [Related]
15. Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer.
Teruya-Feldstein J; Greene J; Cohen L; Popplewell L; Ellis NA; Offit K
Leuk Lymphoma; 2002 Aug; 43(8):1619-26. PubMed ID: 12400605
[TBL] [Abstract] [Full Text] [Related]
