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Items: 1 to 20 of 87

1.

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148.

Fang J, Jia J, Makowski M, Xu M, Wang Z, Zhang T, Hoskins JW, Choi J, Han Y, Zhang M, Thomas J, Kovacs M, Collins I, Dzyadyk M, Thompson A, O'Neill M, Das S, Lan Q, Koster R; PanScan Consortium; TRICL Consortium; GenoMEL Consortium, Stolzenberg-Solomon RS, Kraft P, Wolpin BM, Jansen PWTC, Olson S, McGlynn KA, Kanetsky PA, Chatterjee N, Barrett JH, Dunning AM, Taylor JC, Newton-Bishop JA, Bishop DT, Andresson T, Petersen GM, Amos CI, Iles MM, Nathanson KL, Landi MT, Vermeulen M, Brown KM, Amundadottir LT.

Nat Commun. 2017 May 2;8:15034. doi: 10.1038/ncomms15034.

2.

Identification, genetic testing, and management of hereditary melanoma.

Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P.

Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5.

3.

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry.

Bruno W, Martinuzzi C, Andreotti V, Pastorino L, Spagnolo F, Dalmasso B, Cabiddu F, Gualco M, Ballestrero A, Bianchi-Scarrà G, Queirolo P, Grillo F, Mastracci L, Ghiorzo P; Italian Melanoma Intergroup (IMI).

Oncotarget. 2017 Jan 31;8(5):8069-8082. doi: 10.18632/oncotarget.14094.

4.

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma.

Amaro A, Parodi F, Diedrich K, Angelini G, Götz C, Viaggi S, Maric I, Coviello D, Pistillo MP, Morabito A, Mandalà M, Ghiorzo P, Visconti P, Gualco M, Anselmi L, Puzone R, Lanza F, Mosci C, Raggi F, Bosco MC, Varesio L, Zeschnigk M, Spano L, Queirolo P, Pfeffer U.

JAMA Ophthalmol. 2016 Oct 1;134(10):1125-1133. doi: 10.1001/jamaophthalmol.2016.2691.

PMID:
27532663
5.

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM.

Hum Genet. 2016 Nov;135(11):1241-1249. Epub 2016 Jul 23.

PMID:
27449771
6.

Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project.

Tagliabue E, Gandini S, García-Borrón JC, Maisonneuve P, Newton-Bishop J, Polsky D, Lazovich D, Kumar R, Ghiorzo P, Ferrucci L, Gruis NA, Puig S, Kanetsky PA, Motokawa T, Ribas G, Landi MT, Fargnoli MC, Wong TH, Stratigos A, Helsing P, Guida G, Autier P, Han J, Little J, Sera F, Raimondi S; M-SKIP Study group.

J Invest Dermatol. 2016 Sep;136(9):1914-7. doi: 10.1016/j.jid.2016.05.099. Epub 2016 May 29. No abstract available.

PMID:
27251790
7.

The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients.

Stoehr CG, Walter B, Denzinger S, Ghiorzo P, Sturm RA, Hinze R, Moch H, Junker K, Hartmann A, Stoehr R.

Pathobiology. 2016;83(4):165-9. doi: 10.1159/000443311. Epub 2016 Mar 22.

PMID:
26999813
8.

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families.

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

J Invest Dermatol. 2016 May;136(5):1066-9. doi: 10.1016/j.jid.2016.01.009. Epub 2016 Jan 28. No abstract available.

9.

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
10.

Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B.

Nature. 2016 Mar 3;531(7592):126. doi: 10.1038/nature16158. Epub 2015 Dec 2. No abstract available.

PMID:
26633630
11.

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.

Andreotti V, Bisio A, Bressac-de Paillerets B, Harland M, Cabaret O, Newton-Bishop J, Pastorino L, Bruno W, Bertorelli R, De Sanctis V, Provenzani A, Menin C, Fronza G, Queirolo P, Spitale RC, Bianchi-Scarrà G, Inga A, Ghiorzo P.

Pigment Cell Melanoma Res. 2016 Mar;29(2):210-21. doi: 10.1111/pcmr.12444. Epub 2015 Dec 17.

PMID:
26581427
12.

The 5'-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding.

Bisio A, Latorre E, Andreotti V, Bressac-de Paillerets B, Harland M, Scarra GB, Ghiorzo P, Spitale RC, Provenzani A, Inga A.

Oncotarget. 2015 Nov 24;6(37):39980-94. doi: 10.18632/oncotarget.5387.

13.

A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer.

Martinuzzi C, Pastorino L, Andreotti V, Garuti A, Minuto M, Fiocca R, Bianchi-Scarrà G, Ghiorzo P, Grillo F, Mastracci L.

Endocrine. 2016 Sep;53(3):672-80. doi: 10.1007/s12020-015-0720-9. Epub 2015 Aug 22.

PMID:
26296380
14.

Signs and genetics of rare cancer syndromes with gastroenterological features.

Bruno W, Fornarini G, Ghiorzo P.

World J Gastroenterol. 2015 Aug 14;21(30):8985-93. doi: 10.3748/wjg.v21.i30.8985. Review.

15.

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dębniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JAN, Demenais F, Amos CI, MacGregor S, Iles MM.

Nat Genet. 2015 Sep;47(9):987-995. doi: 10.1038/ng.3373. Epub 2015 Aug 3.

16.

MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.

Tagliabue E, Fargnoli MC, Gandini S, Maisonneuve P, Liu F, Kayser M, Nijsten T, Han J, Kumar R, Gruis NA, Ferrucci L, Branicki W, Dwyer T, Blizzard L, Helsing P, Autier P, García-Borrón JC, Kanetsky PA, Landi MT, Little J, Newton-Bishop J, Sera F, Raimondi S; M-SKIP Study Group.

Br J Cancer. 2015 Jul 14;113(2):354-63. doi: 10.1038/bjc.2015.231. Epub 2015 Jun 23.

17.

BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies.

Spagnolo F, Ghiorzo P, Orgiano L, Pastorino L, Picasso V, Tornari E, Ottaviano V, Queirolo P.

Onco Targets Ther. 2015 Jan 16;8:157-68. doi: 10.2147/OTT.S39096. eCollection 2015. Review.

18.

Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma.

Spagnolo F, Ghiorzo P, Queirolo P.

Oncotarget. 2014 Nov 15;5(21):10206-21. Review.

19.

The effect on melanoma risk of genes previously associated with telomere length.

Iles MM, Bishop DT, Taylor JC, Hayward NK, Brossard M, Cust AE, Dunning AM, Lee JE, Moses EK, Akslen LA; AMFS Investigators, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dębniak T, Elder DE, Friedman E, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Harland M, Helsing P, Hočevar M, Höiom V; IBD investigators, Ingvar C, Kanetsky PA, Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Martin NG, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA; QMEGA and QTWIN Investigators, Radford-Smith GL, Randerson-Moor J; SDH Study Group, van der Stoep N, van Doorn R, Whiteman DC, MacGregor S, Pooley KA, Ward SV, Mann GJ, Amos CI, Pharoah PD, Demenais F, Law MH, Newton Bishop JA, Barrett JH; GenoMEL Consortium.

J Natl Cancer Inst. 2014 Sep 17;106(10). pii: dju267. doi: 10.1093/jnci/dju267. Print 2014 Oct.

20.

Genetic predisposition to pancreatic cancer.

Ghiorzo P.

World J Gastroenterol. 2014 Aug 21;20(31):10778-89. doi: 10.3748/wjg.v20.i31.10778. Review.

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