Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

Terms: = Colorectal cancer AND NF1, NFNS, 4763, ENSG00000196712, P21359 AND Diagnosis
16 results:

  • 1. Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
    Guerrini-Rousseau L; Pasmant E; Muleris M; Abbou S; Adam-De-Beaumais T; Brugieres L; Cabaret O; Colas C; Cotteret S; Decq P; Dufour C; Guillerm E; Rouleau E; Varlet P; Zili S; Vidaud D; Grill J
    J Med Genet; 2024 Jan; 61(2):158-162. PubMed ID: 37775264
    [TBL] [Abstract] [Full Text] [Related]  

  • 2. Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
    Mir A; AlMudhry M; AlOtaibi W; AlHazmi R; AlBaradie R; AlHarbi Q; Bashir S; Chamdine O; Housawi Y
    J Pediatr Hematol Oncol; 2023 Jul; 45(5):e613-e620. PubMed ID: 36897649
    [TBL] [Abstract] [Full Text] [Related]  

  • 3. Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.
    Sukhanova M; Obeidin F; Streich L; Alexiev BA
    Genes Chromosomes Cancer; 2022 Nov; 61(11):653-661. PubMed ID: 35655404
    [TBL] [Abstract] [Full Text] [Related]  

  • 4. Challenges in the diagnosis of neurofibromatosis type 1 (nf1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic nf1 gene variants.
    Kehrer-Sawatzki H; Cooper DN
    Hum Genet; 2022 Feb; 141(2):177-191. PubMed ID: 34928431
    [TBL] [Abstract] [Full Text] [Related]  

  • 5. Impact of Perioperative Thromboembolic Complications on Future Long-term Risk of Venous Thromboembolism among Medicare Beneficiaries Undergoing Complex Gastrointestinal Surgery.
    Paro A; Dalmacy D; Hyer JM; Tsilimigras DI; Diaz A; Pawlik TM
    J Gastrointest Surg; 2021 Dec; 25(12):3064-3073. PubMed ID: 34282525
    [TBL] [Abstract] [Full Text] [Related]  

  • 6. Accumulated genetic mutations leading to accelerated initiation and progression of colorectal cancer in a patient with Gardner syndrome: A case report.
    Gu X; Li X; Xu J; Yang J; Li H; Wu Q; Qian J
    Medicine (Baltimore); 2021 Apr; 100(13):e25247. PubMed ID: 33787608
    [TBL] [Abstract] [Full Text] [Related]  

  • 7. Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
    Ferrer-Avargues R; Castillejo MI; Dámaso E; Díez-Obrero V; Garrigos N; Molina T; Codoñer-Alejos A; Segura Á; Sánchez-Heras AB; Castillejo A; Soto JL
    Cancer Commun (Lond); 2021 Mar; 41(3):218-228. PubMed ID: 33630411
    [TBL] [Abstract] [Full Text] [Related]  

  • 8.
    Lou H; Zhai C; Gong L; Pan H; Pan H; Zhang Y; Yang M; Hu Z
    J Int Med Res; 2020 Aug; 48(8):300060519896435. PubMed ID: 32814491
    [TBL] [Abstract] [Full Text] [Related]  

  • 9. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic nf1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
    Perez-Valencia JA; Gallon R; Chen Y; Koch J; Keller M; Oberhuber K; Gomes A; Zschocke J; Burn J; Jackson MS; Santibanez-Koref M; Messiaen L; Wimmer K
    Genet Med; 2020 Dec; 22(12):2081-2088. PubMed ID: 32773772
    [TBL] [Abstract] [Full Text] [Related]  

  • 10. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
    Suerink M; Ripperger T; Messiaen L; Menko FH; Bourdeaut F; Colas C; Jongmans M; Goldberg Y; Nielsen M; Muleris M; van Kouwen M; Slavc I; Kratz C; Vasen HF; Brugiѐres L; Legius E; Wimmer K
    J Med Genet; 2019 Feb; 56(2):53-62. PubMed ID: 30415209
    [TBL] [Abstract] [Full Text] [Related]  

  • 11. Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature.
    Xie R; Fu KI; Chen SM; Tuo BG; Wu HC
    World J Gastroenterol; 2018 Sep; 24(33):3806-3812. PubMed ID: 30197486
    [TBL] [Abstract] [Full Text] [Related]  

  • 12. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
    Wimmer K; Rosenbaum T; Messiaen L
    Clin Genet; 2017 Apr; 91(4):507-519. PubMed ID: 27779754
    [TBL] [Abstract] [Full Text] [Related]  

  • 13. [Solitary Neurofibroma of the Sigmoid Colon Presenting as a Subepithelial Tumor Successfully Removed by Endoscopic Resection].
    Lee WJ; Park SM; Kim BW; Kim JS; Ji JS; Choi H
    Korean J Gastroenterol; 2016 Jul; 68(1):45-8. PubMed ID: 27443624
    [TBL] [Abstract] [Full Text] [Related]  

  • 14. colorectal cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.
    Urganci N; Genc DB; Kose G; Onal Z; Vidin OO
    Pediatrics; 2015 Oct; 136(4):e1047-50. PubMed ID: 26391938
    [TBL] [Abstract] [Full Text] [Related]  

  • 15. Solitary ganglioneuromatosis of the descending colon, presenting as giant retroperitoneal tumour.
    Mateş I; Iosif C; Dinu D; Constantinoiu S
    Chirurgia (Bucur); 2013; 108(4):584-8. PubMed ID: 23958108
    [TBL] [Abstract] [Full Text] [Related]  

  • 16. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.
    Jasperson KW; Samowitz WS; Burt RW
    Clin Genet; 2011 Oct; 80(4):394-7. PubMed ID: 21039432
    [TBL] [Abstract] [Full Text] [Related]  

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