BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

427 related articles for article (PubMed ID: 30451293)

  • 1. POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.
    Potrony M; Puig-Butille JA; Ribera-Sola M; Iyer V; Robles-Espinoza CD; Aguilera P; Carrera C; Malvehy J; Badenas C; Landi MT; Adams DJ; Puig S
    Br J Dermatol; 2019 Jul; 181(1):105-113. PubMed ID: 30451293
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain.
    Sargen MR; Calista D; Elder DE; Massi D; Chu EY; Potrony M; Pfeiffer RM; Carrera C; Aguilera P; Alos L; Puig S; Elenitsas R; Yang XR; Tucker MA; Landi MT; Goldstein AM
    J Am Acad Dermatol; 2020 Sep; 83(3):860-869. PubMed ID: 32283231
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Germline TERT promoter mutations are rare in familial melanoma.
    Harland M; Petljak M; Robles-Espinoza CD; Ding Z; Gruis NA; van Doorn R; Pooley KA; Dunning AM; Aoude LG; Wadt KA; Gerdes AM; Brown KM; Hayward NK; Newton-Bishop JA; Adams DJ; Bishop DT
    Fam Cancer; 2016 Jan; 15(1):139-44. PubMed ID: 26433962
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
    Wong K; Robles-Espinoza CD; Rodriguez D; Rudat SS; Puig S; Potrony M; Wong CC; Hewinson J; Aguilera P; Puig-Butille JA; Bressac-de Paillerets B; Zattara H; van der Weyden L; Fletcher CDM; Brenn T; Arends MJ; Quesada V; Newton-Bishop JA; Lopez-Otin C; Bishop DT; Harms PW; Johnson TM; Durham AB; Lombard DB; Adams DJ
    JAMA Dermatol; 2019 May; 155(5):604-609. PubMed ID: 30586141
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
    Betti M; Aspesi A; Biasi A; Casalone E; Ferrante D; Ogliara P; Gironi LC; Giorgione R; Farinelli P; Grosso F; Libener R; Rosato S; Turchetti D; Maffè A; Casadio C; Ascoli V; Dianzani C; Colombo E; Piccolini E; Pavesi M; Miccoli S; Mirabelli D; Bracco C; Righi L; Boldorini R; Papotti M; Matullo G; Magnani C; Pasini B; Dianzani I
    Cancer Lett; 2016 Aug; 378(2):120-30. PubMed ID: 27181379
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
    Aoude LG; Pritchard AL; Robles-Espinoza CD; Wadt K; Harland M; Choi J; Gartside M; Quesada V; Johansson P; Palmer JM; Ramsay AJ; Zhang X; Jones K; Symmons J; Holland EA; Schmid H; Bonazzi V; Woods S; Dutton-Regester K; Stark MS; Snowden H; van Doorn R; Montgomery GW; Martin NG; Keane TM; López-Otín C; Gerdes AM; Olsson H; Ingvar C; Borg A; Gruis NA; Trent JM; Jönsson G; Bishop DT; Mann GJ; Newton-Bishop JA; Brown KM; Adams DJ; Hayward NK
    J Natl Cancer Inst; 2015 Feb; 107(2):. PubMed ID: 25505254
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
    Della Torre G; Pasini B; Frigerio S; Donghi R; Rovini D; Delia D; Peters G; Huot TJ; Bianchi-Scarra G; Lantieri F; Rodolfo M; Parmiani G; Pierotti MA
    Br J Cancer; 2001 Sep; 85(6):836-44. PubMed ID: 11556834
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.
    Wilson TL; Hattangady N; Lerario AM; Williams C; Koeppe E; Quinonez S; Osborne J; Cha KB; Else T
    Fam Cancer; 2017 Oct; 16(4):561-566. PubMed ID: 28389767
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
    Soares de Sá BC; Moredo LF; Torrezan GT; Fidalgo F; de Araújo ÉSS; Formiga MN; Duprat JP; Carraro DM
    Int J Mol Sci; 2023 Oct; 24(21):. PubMed ID: 37958811
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
    Auroy S; Avril MF; Chompret A; Pham D; Goldstein AM; Bianchi-Scarrà G; Frebourg T; Joly P; Spatz A; Rubino C; Demenais F; Bressac-de Paillerets B;
    Genes Chromosomes Cancer; 2001 Nov; 32(3):195-202. PubMed ID: 11579459
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
    Shi J; Yang XR; Ballew B; Rotunno M; Calista D; Fargnoli MC; Ghiorzo P; Bressac-de Paillerets B; Nagore E; Avril MF; Caporaso NE; McMaster ML; Cullen M; Wang Z; Zhang X; ; ; ; Bruno W; Pastorino L; Queirolo P; Banuls-Roca J; Garcia-Casado Z; Vaysse A; Mohamdi H; Riazalhosseini Y; Foglio M; Jouenne F; Hua X; Hyland PL; Yin J; Vallabhaneni H; Chai W; Minghetti P; Pellegrini C; Ravichandran S; Eggermont A; Lathrop M; Peris K; Scarra GB; Landi G; Savage SA; Sampson JN; He J; Yeager M; Goldin LR; Demenais F; Chanock SJ; Tucker MA; Goldstein AM; Liu Y; Landi MT
    Nat Genet; 2014 May; 46(5):482-6. PubMed ID: 24686846
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
    Potjer TP; Bollen S; Grimbergen AJEM; van Doorn R; Gruis NA; van Asperen CJ; Hes FJ; van der Stoep N;
    Int J Cancer; 2019 May; 144(10):2453-2464. PubMed ID: 30414346
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
    Peric B; Cerkovnik P; Novakovic S; Zgajnar J; Besic N; Hocevar M
    BMC Med Genet; 2008 Sep; 9():86. PubMed ID: 18803811
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.
    Pellegrini C; Maturo MG; Martorelli C; Suppa M; Antonini A; Kostaki D; Verna L; Landi MT; Peris K; Fargnoli MC
    Melanoma Res; 2017 Jun; 27(3):258-267. PubMed ID: 28146043
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Increased knowledge on familial melanoma and the underlying genetics].
    Helgadottir H; Nielsen K; Höiom V
    Lakartidningen; 2017 May; 114():. PubMed ID: 28485764
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation screening of the CDKN2A promoter in melanoma families.
    Harland M; Holland EA; Ghiorzo P; Mantelli M; Bianchi-Scarrà G; Goldstein AM; Tucker MA; Ponder BA; Mann GJ; Bishop DT; Newton Bishop J
    Genes Chromosomes Cancer; 2000 May; 28(1):45-57. PubMed ID: 10738302
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
    Casula M; Paliogiannis P; Ayala F; De Giorgi V; Stanganelli I; Mandalà M; Colombino M; Manca A; Sini MC; Caracò C; Ascierto PA; Satta RR; ; Lissia A; Cossu A; Palmieri G;
    BMC Cancer; 2019 Aug; 19(1):772. PubMed ID: 31382929
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.
    Malińska K; Deptuła J; Rogoża-Janiszewska E; Górski B; Scott R; Rudnicka H; Kashyap A; Domagała P; Hybiak J; Masojć B; Cybulski C; Kram A; Boer M; Kiedrowicz M; Lubiński J; Dębniak T
    Eur J Cancer Prev; 2020 Nov; 29(6):511-519. PubMed ID: 32976206
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
    Potrony M; Puig-Butille JA; Aguilera P; Badenas C; Tell-Marti G; Carrera C; Javier Del Pozo L; Conejo-Mir J; Malvehy J; Puig S
    JAMA Dermatol; 2016 Apr; 152(4):405-12. PubMed ID: 26650189
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
    Mantelli M; Barile M; Ciotti P; Ghiorzo P; Lantieri F; Pastorino L; Catricalà C; Torre GD; Folco U; Grammatico P; Padovani L; Pasini B; Rovini D; Queirolo P; Rainero ML; Santi PL; Sertoli RM; Goldstein AM; Bianchi-Scarrà G; ;
    Am J Med Genet; 2002 Jan; 107(3):214-21. PubMed ID: 11807902
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.