BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 32463173)

  • 1. Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
    Breen KE; Carlo MI; Kemel Y; Maio A; Chen YB; Zhang L; Ceyhan-Birsoy O; Mandelker D
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1293. PubMed ID: 32463173
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
    Rabban JT; Chan E; Mak J; Zaloudek C; Garg K
    Am J Surg Pathol; 2019 May; 43(5):639-655. PubMed ID: 30741757
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
    Liu C; Dillon J; Beavis AL; Liu Y; Lombardo K; Fader AN; Hung CF; Wu TC; Vang R; Garcia JE; Xing D
    Histopathology; 2020 Feb; 76(3):354-365. PubMed ID: 31564060
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
    Shuch B; Li S; Risch H; Bindra RS; McGillivray PD; Gerstein M
    Cancer; 2020 Aug; 126(16):3657-3666. PubMed ID: 32413184
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
    Wyvekens N; Valtcheva N; Mischo A; Helmchen B; Hermanns T; Choschzick M; Hötker AM; Rauch A; Mühleisen B; Akhoundova D; Weber A; Moch H; Rupp NJ
    Genes Chromosomes Cancer; 2020 Nov; 59(11):611-619. PubMed ID: 32537760
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
    Ouchene L; Wilde B; Chan-Pak-Choon F; Camacho Valenzuela J; Brimo F; Witkowski L; Christofk H; Domecq C; Fu L; Weber E; Lemieux Anglin B; Netchiporouk E; Foulkes WD
    Genes Chromosomes Cancer; 2024 Feb; 63(2):e23221. PubMed ID: 38682608
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome.
    Sanz-Ortega J; Vocke C; Stratton P; Linehan WM; Merino MJ
    Am J Surg Pathol; 2013 Jan; 37(1):74-80. PubMed ID: 23211287
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
    Bhola PT; Gilpin C; Smith A; Graham GE
    Fam Cancer; 2018 Oct; 17(4):615-620. PubMed ID: 29423582
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
    Rongioletti F; Fausti V; Ferrando B; Parodi A; Mandich P; Pasini B
    Dermatology; 2010; 221(4):378-80. PubMed ID: 21051878
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
    Gunnala V; Pereira N; Irani M; Lilienthal D; Pirog EC; Soslow R; Caputo TA; Elias R; Kligman I; Rosenwaks Z
    Int J Gynecol Pathol; 2018 May; 37(3):256-261. PubMed ID: 28700432
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
    Trpkov K; Hes O; Agaimy A; Bonert M; Martinek P; Magi-Galluzzi C; Kristiansen G; Lüders C; Nesi G; Compérat E; Sibony M; Berney DM; Mehra R; Brimo F; Hartmann A; Husain A; Frizzell N; Hills K; Maclean F; Srinivasan B; Gill AJ
    Am J Surg Pathol; 2016 Jul; 40(7):865-75. PubMed ID: 26900816
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
    Muller M; Ferlicot S; Guillaud-Bataille M; Le Teuff G; Genestie C; Deveaux S; Slama A; Poulalhon N; Escudier B; Albiges L; Soufir N; Avril MF; Gardie B; Saldana C; Allory Y; Gimenez-Roqueplo AP; Bressac-de Paillerets B; Richard S; Benusiglio PR
    Clin Genet; 2017 Dec; 92(6):606-615. PubMed ID: 28300276
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
    Kopp RP; Stratton KL; Glogowski E; Schrader KA; Rau-Murthy R; Russo P; Coleman JA; Offit K
    Cancer; 2017 Jul; 123(13):2452-2458. PubMed ID: 28171700
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
    da Cunha IW; da Costa WH; Morini MA; Bezerra SM; Carraro DM; Torrezan GT; Formiga MNC; Guimaraes GC; Zequi SC; Soares FA
    Virchows Arch; 2018 Dec; 473(6):775-779. PubMed ID: 30171332
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
    Furuya M; Iribe Y; Nagashima Y; Kambe N; Ohe C; Kinoshita H; Sato C; Kishida T; Okubo Y; Numakura K; Nanjo H; Nakaigawa N; Makiyama K; Hasumi H; Iwashita H; Ohta J; Kitamura H; Nakajima T; Yoshida T; Nakagawa M; Tanaka R; Yao M
    J Clin Pathol; 2020 Dec; 73(12):819-825. PubMed ID: 32376712
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings.
    Noguchi G; Furuya M; Okubo Y; Nagashima Y; Kato I; Matsumoto K; Tanaka R; Hisasue SI; Yao M; Kishida T
    Int J Urol; 2018 Sep; 25(9):832-835. PubMed ID: 30058172
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.
    Alzahrani AS; Alswailem M; Alghamdi B; Al-Hindi H
    J Clin Endocrinol Metab; 2022 Aug; 107(9):2539-2544. PubMed ID: 35751867
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Hereditary leiomyomatosis and renal cell cancer - HLRCC/multiple cutaneous and uterine leimomyomatosis - MCUL].
    Plevová P; Hladíková A; Tesařová M
    Klin Onkol; 2012; 25 Suppl():S55-8. PubMed ID: 22920208
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
    Buelow B; Cohen J; Nagymanyoki Z; Frizzell N; Joseph NM; McCalmont T; Garg K
    Am J Surg Pathol; 2016 Jul; 40(7):982-8. PubMed ID: 26945337
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
    Hol JA; Jongmans MCJ; Littooij AS; de Krijger RR; Kuiper RP; van Harssel JJT; Mensenkamp A; Simons M; Tytgat GAM; van den Heuvel-Eibrink MM; van Grotel M
    Fam Cancer; 2020 Jan; 19(1):55-63. PubMed ID: 31792767
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.