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Items: 1 to 20 of 163

1.

CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

Orlow I, Begg CB, Cotignola J, Roy P, Hummer AJ, Clas BA, Mujumdar U, Canchola R, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Anton-Culver H, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Kanetsky PA, Wilcox H, Busam K, From L, Berwick M; GEM Study Group.

J Invest Dermatol. 2007 May;127(5):1234-43. Epub 2007 Jan 11.

2.

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L, Bonelli L, Ghiorzo P, Queirolo P, Battistuzzi L, Balleari E, Nasti S, Gargiulo S, Gliori S, Savoia P, Abate Osella S, Bernengo MG, Bianchi Scarrà G.

Pigment Cell Melanoma Res. 2008 Dec;21(6):700-9. doi: 10.1111/j.1755-148X.2008.00512.x. Epub 2008 Oct 22.

PMID:
18983535
3.

Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma.

Tsao H, Zhang X, Kwitkiwski K, Finkelstein DM, Sober AJ, Haluska FG.

Arch Dermatol. 2000 Sep;136(9):1118-22.

PMID:
10987867
4.

Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma.

Platz A, Hansson J, Månsson-Brahme E, Lagerlof B, Linder S, Lundqvist E, Sevigny P, Inganäs M, Ringborg U.

J Natl Cancer Inst. 1997 May 21;89(10):697-702.

PMID:
9168184
5.

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 14;85(6):836-44.

6.

CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.

Hashemi J, Platz A, Ueno T, Stierner U, Ringborg U, Hansson J.

Cancer Res. 2000 Dec 15;60(24):6864-7.

7.

Contribution of CDKN2A/P16 ( INK4A ), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma.

Buecher B, Gauthier-Villars M, Desjardins L, Lumbroso-Le Rouic L, Levy C, De Pauw A, Bombled J, Tirapo C, Houdayer C, Bressac-de Paillerets B, Stoppa-Lyonnet D.

Fam Cancer. 2010 Dec;9(4):663-7. doi: 10.1007/s10689-010-9379-9.

PMID:
20842456
8.

Patients with both pancreatic adenocarcinoma and melanoma may harbor germline CDKN2A mutations.

Lal G, Liu L, Hogg D, Lassam NJ, Redston MS, Gallinger S.

Genes Chromosomes Cancer. 2000 Apr;27(4):358-61.

PMID:
10719365
9.

The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.

Berwick M, Orlow I, Hummer AJ, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Anton-Culver H, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Kanetsky PA, Busam K, From L, Mujumdar U, Wilcox H, Begg CB; GEM Study Group.

Cancer Epidemiol Biomarkers Prev. 2006 Aug;15(8):1520-5.

10.

Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma.

Berg P, Wennberg AM, Tuominen R, Sander B, Rozell BL, Platz A, Hansson J.

Melanoma Res. 2004 Aug;14(4):251-5.

PMID:
15305154
11.

Germline CDKN2A/p16 mutations are rare in multiple primary and familial malignant melanoma in German patients.

Lukowsky A, Schäfer-Hesterberg G, Sterry W, Voit C.

J Dermatol Sci. 2008 Feb;49(2):163-5. Epub 2007 Sep 24. No abstract available.

PMID:
17890059
12.

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

McWilliams RR, Wieben ED, Rabe KG, Pedersen KS, Wu Y, Sicotte H, Petersen GM.

Eur J Hum Genet. 2011 Apr;19(4):472-8. doi: 10.1038/ejhg.2010.198. Epub 2010 Dec 8.

13.

A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds.

Lang JM, Shennan M, Njauw JC, Luo S, Bishop JN, Harland M, Hayward NK, Tucker MA, Goldstein AM, Landi MT, Puig S, Gruis NA, Bergman W, Bianchi-Scarra G, Ghiorzo P, Hogg D, Tsao H.

J Invest Dermatol. 2011 Feb;131(2):480-6. doi: 10.1038/jid.2010.331. Epub 2010 Nov 18.

14.

Prevalence of 9p21 deletions in UK melanoma families.

Mistry SH, Taylor C, Randerson-Moor JA, Harland M, Turner F, Barrett JH, Whitaker L, Jenkins RB, Knowles MA, Bishop JA, Bishop DT.

Genes Chromosomes Cancer. 2005 Nov;44(3):292-300.

PMID:
16032697
15.

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 19;9:86. doi: 10.1186/1471-2350-9-86.

16.

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

Bruno W, Pastorino L, Ghiorzo P, Andreotti V, Martinuzzi C, Menin C, Elefanti L, Stagni C, Vecchiato A, Rodolfo M, Maurichi A, Manoukian S, De Giorgi V, Savarese I, Gensini F, Borgognoni L, Testori A, Spadola G, Mandalà M, Imberti G, Savoia P, Astrua C, Ronco AM, Farnetti A, Tibiletti MG, Lombardo M, Palmieri G, Ayala F, Ascierto P, Ghigliotti G, Muggianu M, Spagnolo F, Picasso V, Tanda ET, Queirolo P, Bianchi-Scarrà G.

J Am Acad Dermatol. 2016 Feb;74(2):325-32. doi: 10.1016/j.jaad.2015.09.053.

PMID:
26775776
17.

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. doi: 10.1001/jamadermatol.2015.4356.

PMID:
26650189
18.

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

Nikolaou V, Kang X, Stratigos A, Gogas H, Latorre MC, Gabree M, Plaka M, Njauw CN, Kypreou K, Mirmigi I, Stefanaki I, Tsao H.

Br J Dermatol. 2011 Dec;165(6):1219-22. doi: 10.1111/j.1365-2133.2011.10551.x. Epub 2011 Nov 2.

19.

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C, Brookes S, del Arroyo AG, Pham D, Bombled J, Barrois M, Mauffret O, Avril MF, Chompret A, Lenoir GM, Sarasin A; French Hereditary Melanoma Study Group, Peters G, Bressac-de Paillerets B.

Hum Mutat. 2009 Apr;30(4):564-74. doi: 10.1002/humu.20845.

PMID:
19260062
20.

Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes.

Soufir N, Bressac-de Paillerets B, Desjardins L, Lévy C, Bombled J, Gorin I, Schlienger P, Stoppa-Lyonnet D.

Br J Cancer. 2000 Feb;82(4):818-22.

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