Terms: = Skin cancer AND MSH6, GTBP, P52701, 2956, ENSG00000116062, HSAP, HNPCC5 AND Diagnosis
43 results:
1. Muir-Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations.
Shaker N; Shaker N; Abid A; Shah S; Shakra RA; Sangueza OP
J Surg Oncol; 2023 Dec; 128(8):1380-1384. PubMed ID: 37706607
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2. Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the diagnosis of Lynch Syndrome with High Specificity and Sensitivity.
Kansikas M; Vähätalo L; Kantelinen J; Kasela M; Putula J; Døhlen A; Paloviita P; Kärkkäinen E; Lahti N; Arnez P; Kilpinen S; Alcala-Repo B; Pylvänäinen K; Pöyhönen M; Peltomäki P; Järvinen HJ; Seppälä TT; Renkonen-Sinisalo L; Lepistö A; Mecklin JP; Nyström M
Cancer Res Commun; 2023 Mar; 3(3):361-370. PubMed ID: 36875157
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3. Deficient mismatch repair is detected in large-to-giant congenital melanocytic naevi: providing new insight into aetiology and diagnosis.
Wei B; Gu J; Gao B; Bao Y; Duan R; Li Q; Xie F
Br J Dermatol; 2023 Jan; 188(1):64-74. PubMed ID: 36689509
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4. Radiation-response in primary fibroblasts of long-term survivors of childhood cancer with and without second primary neoplasms: the KiKme study.
Grandt CL; Brackmann LK; Poplawski A; Schwarz H; Hummel-Bartenschlager W; Hankeln T; Kraemer C; Marini F; Zahnreich S; Schmitt I; Drees P; Mirsch J; Grabow D; Schmidberger H; Binder H; Hess M; Galetzka D; Marron M
Mol Med; 2022 Sep; 28(1):105. PubMed ID: 36068491
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5. 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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6. 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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7. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
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8. Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Abdel-Rahman MH; Sample KM; Pilarski R; Walsh T; Grosel T; Kinnamon D; Boru G; Massengill JB; Schoenfield L; Kelly B; Gordon D; Johansson P; DeBenedictis MJ; Singh A; Casadei S; Davidorf FH; White P; Stacey AW; Scarth J; Fewings E; Tischkowitz M; King MC; Hayward NK; Cebulla CM
Ophthalmology; 2020 May; 127(5):668-678. PubMed ID: 32081490
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9. Ocular Adnexal Adenomatoid Sebaceous Gland Hyperplasia: A Clinical and Immunopathologic Analysis in Relation to the Muir-Torre Syndrome.
Jakobiec FA; Cortes Barrantes P; Milman T; Lee NG; Fay A
Ophthalmic Plast Reconstr Surg; 2020; 36(1):e6-e12. PubMed ID: 31593035
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10. Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?
Vaisfeld A; Calicchia M; Pomponi MG; Lucci-Cordisco E; Reggiani-Bonetti L; Genuardi M
Fam Cancer; 2019 Oct; 18(4):421-427. PubMed ID: 31292797
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11. Multiple benign adnexal tumours: Anything but benign.
McCarthy RL; Thomas CL; Isaacs F
Australas J Dermatol; 2019 Aug; 60(3):234-236. PubMed ID: 30671930
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12. Clinico-pathological predictors of mismatch repair deficiency in sebaceous neoplasia: A large case series from a single Australian private pathology service.
Walsh MD; Jayasekara H; Huang A; Winship IM; Buchanan DD
Australas J Dermatol; 2019 May; 60(2):126-133. PubMed ID: 30506759
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13. Muir-Torre Syndrome: A Case Report in a Woman Without Personal cancer History.
Torre K; Ricketts J; Dadras SS
Am J Dermatopathol; 2019 Jan; 41(1):55-59. PubMed ID: 29933315
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14. Cutaneous Metastasis of Adenocarcinoma of the Ampulla of Vater.
Fernandez-Flores A; Cassarino DS
Am J Dermatopathol; 2018 Oct; 40(10):758-761. PubMed ID: 29672360
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15. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and msh6.
Taeubner J; Wimmer K; Muleris M; Lascols O; Colas C; Fauth C; Brozou T; Felsberg J; Riemer J; Gombert M; Ginzel S; Hoell JI; Borkhardt A; Kuhlen M
Eur J Hum Genet; 2018 Mar; 26(3):440-444. PubMed ID: 29302048
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16. Sebaceous tumours: more than skin deep.
Jockenhöfer F; Schimming TT; Schaller J; Moege J; Livingstone E; Salva KA; Zimmer L; Schadendorf D; Rösch A
Gut; 2018 Nov; 67(11):1957. PubMed ID: 29247065
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17. Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.
Ponz de Leon M; Pedroni M; Pezzi A; Sulce B; Roncucci L; Domati F; Rossi G; Reggiani Bonetti L
Scand J Gastroenterol; 2018 Jan; 53(1):31-37. PubMed ID: 29025352
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18. 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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19. [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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20. Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome.
Kacerovska D; Drlik L; Slezakova L; Michal M; Stehlik J; Sedivcova M; Hadravsky L; Kazakov DV
Am J Dermatopathol; 2016 Dec; 38(12):915-923. PubMed ID: 27870730
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