Terms: = Skin cancer AND MSH2, COCA1, 4436, ENSG00000095002, HNPCC, FCC1, HNPCC1, P43246 AND Diagnosis
74 results:
1. Muir-Torre Syndrome with Novel Mutation in the msh2 Gene.
Ustaoglu E; Agirgol S; Aymelek HS; Turhan EI
Acta Dermatovenerol Croat; 2023 Dec; 31(3):144-147. PubMed ID: 38439724
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2. 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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3. 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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4. 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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5. Keratoacanthoma or cutaneous squamous cell carcinoma revealing a DNA mismatch repair default (Muir-Torre Syndrome).
Miao Y; Kolb F; Tomasic G; Lupu J; Routier E; Robert C
J Eur Acad Dermatol Venereol; 2022 Jan; 36 Suppl 1():74-76. PubMed ID: 34855250
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6. Clinical and Molecular Features of skin Malignancies in Muir-Torre Syndrome.
Simic D; Dummer R; Freiberger SN; Ramelyte E; Barysch MJ
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065301
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7. 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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8. Muir-Torre Syndrome With a Frame-shift Mutation in the msh2 Gene: A Rare Case Report and Literature Review.
Chen Q; Wang M; Xu Z; Wang M; Jin S; Tian S; Xiao S
Int J Gynecol Pathol; 2020 Mar; 39(2):136-140. PubMed ID: 32039937
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9. Update on the pathology, genetics and somatic landscape of sebaceous tumours.
Ferreira I; Wiedemeyer K; Demetter P; Adams DJ; Arends MJ; Brenn T
Histopathology; 2020 Apr; 76(5):640-649. PubMed ID: 31821583
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10. Muir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report.
Tomonari M; Shimada M; Nakada Y; Yamamoto I; Itoh M; Koike Y; Kobayashi A; Miki J; Yamada H; Kimura T; Saito S; Sugano K; Sekine S; Yamamoto H; Asahina A; Yokoo T
BMC Nephrol; 2019 Oct; 20(1):394. PubMed ID: 31664942
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11. 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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12. 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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13. 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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14. 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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15. Sebaceous adenocarcinomas of the major salivary glands: a clinicopathological analysis of 10 cases.
Soares CD; Morais TML; Carlos R; Jorge J; de Almeida OP; de Carvalho MGF; Altemani AMM
Histopathology; 2018 Oct; 73(4):585-592. PubMed ID: 29856905
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16. 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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17. Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.
Schon K; Rytina E; Drummond J; Simmonds J; Abbs S; Sandford R; Tischkowitz M
Clin Exp Dermatol; 2018 Jun; 43(4):410-415. PubMed ID: 29333623
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18. 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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19. 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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20. 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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