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Items: 1 to 20 of 91

1.

Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.

Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril MF, Azizi E, Bergman W, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Grazziotin TC, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard A, Puig S, van der Stoep N, Wadt KAW, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA; GenoMEL Study Group.

J Invest Dermatol. 2017 Dec;137(12):2606-2612. doi: 10.1016/j.jid.2017.07.829. Epub 2017 Aug 19.

2.

Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations.

Bishop JA, Wachsmuth RC, Harland M, Bataille V, Pinney E, MacK P, Baglietto L, Cuzick J, Bishop DT.

J Invest Dermatol. 2000 Jan;114(1):28-33.

3.

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Demenais F, Mohamdi H, Chaudru V, Goldstein AM, Newton Bishop JA, Bishop DT, Kanetsky PA, Hayward NK, Gillanders E, Elder DE, Avril MF, Azizi E, van Belle P, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Carrera C, Hansson J, Harland M, Hogg D, Höiom V, Holland EA, Ingvar C, Landi MT, Lang JM, Mackie RM, Mann GJ, Ming ME, Njauw CJ, Olsson H, Palmer J, Pastorino L, Puig S, Randerson-Moor J, Stark M, Tsao H, Tucker MA, van der Velden P, Yang XR, Gruis N; Melanoma Genetics Consortium.

J Natl Cancer Inst. 2010 Oct 20;102(20):1568-83. doi: 10.1093/jnci/djq363. Epub 2010 Sep 28.

4.

Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.

Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA.

J Natl Cancer Inst. 2000 Jun 21;92(12):1006-10.

PMID:
10861313
5.

Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.

Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA, Goldstein AM.

Fam Cancer. 2010 Dec;9(4):625-33. doi: 10.1007/s10689-010-9356-3.

6.

Longitudinal assessment of the nevus phenotype in a melanoma kindred.

Florell SR, Meyer LJ, Boucher KM, Porter-Gill PA, Hart M, Erickson J, Cannon-Albright LA, Pershing LK, Harris RM, Samlowski WE, Zone JJ, Leachman SA.

J Invest Dermatol. 2004 Sep;123(3):576-82.

7.

Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.

Chaudru V, Chompret A, Bressac-de Paillerets B, Spatz A, Avril MF, Demenais F.

J Natl Cancer Inst. 2004 May 19;96(10):785-95.

PMID:
15150307
8.

Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype.

Nielsen K, Harbst K, Måsbäck A, Jönsson G, Borg A, Olsson H, Ingvar C.

Melanoma Res. 2010 Aug;20(4):266-72. doi: 10.1097/CMR.0b013e3283341339.

PMID:
20526219
9.

Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases.

Helgadottir H, Höiom V, Tuominen R, Nielsen K, Jönsson G, Olsson H, Hansson J.

J Natl Cancer Inst. 2016 Jun 10;108(11). doi: 10.1093/jnci/djw135. Print 2016 Nov.

PMID:
27287845
10.

Phenocopies in melanoma-prone families with germ-line CDKN2A mutations.

Helgadottir H, Olsson H, Tucker MA, Yang XR, Höiom V, Goldstein AM.

Genet Med. 2018 Sep;20(9):1087-1090. doi: 10.1038/gim.2017.216. Epub 2017 Dec 7.

11.

An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele.

Bertram CG, Gaut RM, Barrett JH, Pinney E, Whitaker L, Turner F, Bataille V, Dos Santos Silva I, J Swerdlow A, Bishop DT, Newton Bishop JA.

J Invest Dermatol. 2002 Oct;119(4):961-5.

12.

CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.

Dalmasso B, Pastorino L, Ciccarese G, Andreotti V, Grillo F, Mastracci L, Spagnolo F, Ballestrero A, Queirolo P, Bruno W, Ghiorzo P.

J Am Acad Dermatol. 2019 May;80(5):1263-1271. doi: 10.1016/j.jaad.2018.07.060. Epub 2018 Sep 28.

PMID:
30274933
13.

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricalà C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A.

J Med Genet. 2013 Apr;50(4):264-70. doi: 10.1136/jmedgenet-2012-101455. Epub 2013 Feb 5. Erratum in: J Med Genet. 2014 Mar;51(3):214.

14.

The genetics of hereditary melanoma and nevi. 1998 update.

Greene MH.

Cancer. 1999 Dec 1;86(11 Suppl):2464-77. Review.

PMID:
10630172
15.

Cancer risks and survival in patients with multiple primary melanomas: Association with family history of melanoma and germline CDKN2A mutation status.

Helgadottir H, Tuominen R, Olsson H, Hansson J, Höiom V.

J Am Acad Dermatol. 2017 Nov;77(5):893-901. doi: 10.1016/j.jaad.2017.05.050. Epub 2017 Aug 14.

PMID:
28818438
16.

Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families.

Goldstein AM, Martinez M, Tucker MA, Demenais F.

Cancer Epidemiol Biomarkers Prev. 2000 Sep;9(9):889-94.

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.

19.

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

Mangas C, Potrony M, Mainetti C, Bianchi E, Carrozza Merlani P, Mancarella Eberhardt A, Maspoli-Postizzi E, Marazza G, Marcollo-Pini A, Pelloni F, Sessa C, Simona B, Puig-Butillé JA, Badenas C, Puig S.

Br J Dermatol. 2016 Nov;175(5):1030-1037. doi: 10.1111/bjd.14897. Epub 2016 Aug 31.

PMID:
27473757
20.

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.

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