Terms: = Leukemia AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5
46 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
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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. 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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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
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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
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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
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7. Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the msh6 gene: a case report.
Hizuka K; Hagiwara SI; Maeyama T; Honma H; Kawai M; Akagi K; Yasuhara M; Tomita N; Etani Y
BMC Gastroenterol; 2021 Feb; 21(1):60. PubMed ID: 33568103
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8. Low MLL2 Protein Expression Is Associated With Fibrosis in Early Stage Gastric Cancer.
Numakura S; Uozaki H
In Vivo; 2021; 35(1):603-609. PubMed ID: 33402515
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9. Metachronous Wilms Tumor, Glioblastoma, and T-cell leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in msh6 (c.2590G>T).
Citak EC; Sagcan F; Gundugan BD; Bozdogan ST; Yilmaz EB; Avci E; Balci Y; Karabulut YY
J Pediatr Hematol Oncol; 2021 Mar; 43(2):e198-e202. PubMed ID: 31815888
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10. 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
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11. Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome.
Tamura K; Kaneda M; Futagawa M; Takeshita M; Kim S; Nakama M; Kawashita N; Tatsumi-Miyajima J
Int J Clin Oncol; 2019 Sep; 24(9):999-1011. PubMed ID: 31273487
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12. Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).
Leenders EKSM; Westdorp H; Brüggemann RJ; Loeffen J; Kratz C; Burn J; Hoogerbrugge N; Jongmans MCJ
Eur J Hum Genet; 2018 Oct; 26(10):1417-1423. PubMed ID: 29904176
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13. Discontinuation of tyrosine kinase inhibitors in chronic myeloid leukemia: Recommendations for clinical practice from the French Chronic Myeloid leukemia Study Group.
Rea D; Ame S; Berger M; Cayuela JM; Charbonnier A; Coiteux V; Cony-Makhoul P; Dubruille V; Dulucq S; Etienne G; Legros L; Nicolini F; Roche-Lestienne C; Escoffre-Barbe M; Gardembas M; Guerci-Bresler A; Johnson-Ansah H; Rigal-Huguet F; Rousselot P; Mahon FX;
Cancer; 2018 Jul; 124(14):2956-2963. PubMed ID: 29723417
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14. msh6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.
Evensen NA; Madhusoodhan PP; Meyer J; Saliba J; Chowdhury A; Araten DJ; Nersting J; Bhatla T; Vincent TL; Teachey D; Hunger SP; Yang J; Schmiegelow K; Carroll WL
Haematologica; 2018 May; 103(5):830-839. PubMed ID: 29449434
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15. Microsatellite Instability and Promoter Hypermethylation of DNA repair genes in Hematologic Malignancies: a forthcoming direction toward diagnostics.
Bhattacharya P; Patel TN
Hematology; 2018 Mar; 23(2):77-82. PubMed ID: 28728506
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16. Protective effect of human serum amyloid P on CCl4-induced acute liver injury in mice.
Cong M; Zhao W; Liu T; Wang P; Fan X; Zhai Q; Bao X; Zhang D; You H; Kisseleva T; Brenner DA; Jia J; Zhuang H
Int J Mol Med; 2017 Aug; 40(2):454-464. PubMed ID: 28627620
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17. Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature.
Cheyuo C; Radwan W; Ahn J; Gyure K; Qaiser R; Tomboc P
J Pediatr Hematol Oncol; 2017 Oct; 39(7):e381-e387. PubMed ID: 28562508
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18. Frequent somatic mutations in epigenetic regulators in newly diagnosed chronic myeloid leukemia.
Togasaki E; Takeda J; Yoshida K; Shiozawa Y; Takeuchi M; Oshima M; Saraya A; Iwama A; Yokote K; Sakaida E; Hirase C; Takeshita A; Imai K; Okumura H; Morishita Y; Usui N; Takahashi N; Fujisawa S; Shiraishi Y; Chiba K; Tanaka H; Kiyoi H; Ohnishi K; Ohtake S; Asou N; Kobayashi Y; Miyazaki Y; Miyano S; Ogawa S; Matsumura I; Nakaseko C; Naoe T
Blood Cancer J; 2017 Apr; 7(4):e559. PubMed ID: 28452984
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19. 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
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20. Identification of a tumor suppressor network in T-cell leukemia.
Nagel S; Pommerenke C; Meyer C; Kaufmann M; MacLeod RAF; Drexler HG
Leuk Lymphoma; 2017 Sep; 58(9):2196–2207. PubMed ID: 28142295
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