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Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Paola Ghiorzo, Sara Gargiulo, Lorenza Pastorino, Sabina Nasti, Roberto Cusano, William Bruno, Sara Gliori, Mario R Sertoli, Anna Burroni, Vincenzo Savarino, Francesca Gensini, Roberta Sestini, Paola Queirolo, Alisa M Goldstein, Giovanna Bianchi Scarrà. Hum Mol Genet 2006
Times Cited: 36






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List of co-cited articles
210 articles co-cited >1



Times Cited
  Times     Co-cited
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High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Alisa M Goldstein, May Chan, Mark Harland, Elizabeth M Gillanders, Nicholas K Hayward, Marie-Francoise Avril, Esther Azizi, Giovanna Bianchi-Scarra, D Timothy Bishop, Brigitte Bressac-de Paillerets,[...]. Cancer Res 2006
279
21
58

Clinical genetic testing for familial melanoma in Italy: a cooperative study.
William Bruno, Paola Ghiorzo, Linda Battistuzzi, Paolo A Ascierto, Monica Barile, Sara Gargiulo, Francesca Gensini, Sara Gliori, Michele Guida, Maurizio Lombardo,[...]. J Am Acad Dermatol 2009
34
11
32

Prevalence of 9p21 deletions in UK melanoma families.
Sushila H Mistry, Claire Taylor, Juliette A Randerson-Moor, Mark Harland, Faye Turner, Jennifer H Barrett, Linda Whitaker, Robert B Jenkins, Margaret A Knowles, Julia A Newton Bishop,[...]. Genes Chromosomes Cancer 2005
33
9
27

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.
Michela Mantelli, Lorenza Pastorino, Paola Ghiorzo, Monica Barile, William Bruno, Sara Gargiulo, Maria Pia Sormani, Sara Gliori, Stefania Vecchio, Paola Ciotti,[...]. Melanoma Res 2004
21
9
42

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
Paola Ghiorzo, Giuseppe Fornarini, Stefania Sciallero, Linda Battistuzzi, Fiorenza Belli, Loris Bernard, Luigina Bonelli, Giacomo Borgonovo, William Bruno, Franco De Cian,[...]. J Med Genet 2012
49
9
25

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
P Ghiorzo, L Pastorino, P Queirolo, W Bruno, M G Tibiletti, S Nasti, V Andreotti, B Bressac-de Paillerets, G Bianchi Scarrà. Pigment Cell Melanoma Res 2013
65
9
25

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.
M Harland, S Mistry, D T Bishop, J A Bishop. Hum Mol Genet 2001
83
8
22

INK4/ARF germline alterations in pancreatic cancer patients.
P Ghiorzo, L Pastorino, L Bonelli, R Cusano, A Nicora, S Zupo, P Queirolo, M Sertoli, V Pugliese, G Bianchi-Scarrà. Ann Oncol 2004
33
8
24

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Alisa M Goldstein, May Chan, Mark Harland, Nicholas K Hayward, Florence Demenais, D Timothy Bishop, Esther Azizi, Wilma Bergman, Giovanna Bianchi-Scarra, William Bruno,[...]. J Med Genet 2007
259
7
19

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.
N Soufir, M F Avril, A Chompret, F Demenais, J Bombled, A Spatz, D Stoppa-Lyonnet, J Bénard, B Bressac-de Paillerets. Hum Mol Genet 1998
308
7
19

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
G Della Torre, B Pasini, S Frigerio, R Donghi, D Rovini, D Delia, G Peters, T J Huot, G Bianchi-Scarra, F Lantieri,[...]. Br J Cancer 2001
49
7
19

Characterization of ligurian melanoma families and risk of occurrence of other neoplasia.
P Ghiorzo, P Ciotti, M Mantelli, A Heouaine, P Queirolo, M L Rainero, C Ferrari, P L Santi, R De Marchi, A Farris,[...]. Int J Cancer 1999
68
7
19

Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
Alisa M Goldstein, Valerie Chaudru, Paola Ghiorzo, Celia Badenas, Josep Malvehy, Lorenza Pastorino, Karine Laud, Benjamin Hulley, Marie-Francoise Avril, Joan A Puig-Butille,[...]. Int J Cancer 2007
40
7
19

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
L Pastorino, L Bonelli, P Ghiorzo, P Queirolo, L Battistuzzi, E Balleari, S Nasti, S Gargiulo, S Gliori, P Savoia,[...]. Pigment Cell Melanoma Res 2008
40
7
19

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.
L Liu, D Dilworth, L Gao, J Monzon, A Summers, N Lassam, D Hogg. Nat Genet 1999
195
6
16

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.
K Laud, C Marian, M F Avril, M Barrois, A Chompret, A M Goldstein, M A Tucker, P A Clark, G Peters, V Chaudru,[...]. J Med Genet 2006
40
6
16

Geographical variation in the penetrance of CDKN2A mutations for melanoma.
D Timothy Bishop, Florence Demenais, Alisa M Goldstein, Wilma Bergman, Julia Newton Bishop, Brigitte Bressac-de Paillerets, Agnès Chompret, Paola Ghiorzo, Nelleke Gruis, Johan Hansson,[...]. J Natl Cancer Inst 2002
337
6
16

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
L Zuo, J Weger, Q Yang, A M Goldstein, M A Tucker, G J Walker, N Hayward, N C Dracopoli. Nat Genet 1996
612
6
16

A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family.
J A Randerson-Moor, M Harland, S Williams, D Cuthbert-Heavens, E Sheridan, J Aveyard, K Sibley, L Whitaker, M Knowles, J N Bishop,[...]. Hum Mol Genet 2001
209
6
16

Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.
Henry T Lynch, Randall E Brand, David Hogg, Carolyn A Deters, Ramon M Fusaro, Jane F Lynch, Ling Liu, Joseph Knezetic, Norman J Lassam, Michael Goggins,[...]. Cancer 2002
156
6
16

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.
Alessandra Bisio, Sabina Nasti, Jennifer J Jordan, Sara Gargiulo, Lorenza Pastorino, Alessandro Provenzani, Alessandro Quattrone, Paola Queirolo, Giovanna Bianchi-Scarrà, Paola Ghiorzo,[...]. Hum Mol Genet 2010
39
6
16

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Satoru Yokoyama, Susan L Woods, Glen M Boyle, Lauren G Aoude, Stuart MacGregor, Victoria Zismann, Michael Gartside, Anne E Cust, Rizwan Haq, Mark Harland,[...]. Nature 2011
280
6
16

MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.
Paola Ghiorzo, Luigina Bonelli, Lorenza Pastorino, William Bruno, Monica Barile, Virginia Andreotti, Sabina Nasti, Linda Battistuzzi, Marco Grosso, Giovanna Bianchi-Scarrà,[...]. Exp Dermatol 2012
30
6
20

TERT promoter mutations in familial and sporadic melanoma.
Susanne Horn, Adina Figl, P Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki,[...]. Science 2013
1163
6
16

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
William Bruno, Lorenza Pastorino, Paola Ghiorzo, Virginia Andreotti, Claudia Martinuzzi, Chiara Menin, Lisa Elefanti, Camilla Stagni, Antonella Vecchiato, Monica Rodolfo,[...]. J Am Acad Dermatol 2016
24
6
25

CDKN2A mutations in multiple primary melanomas.
J Monzon, L Liu, H Brill, A M Goldstein, M A Tucker, L From, J McLaughlin, D Hogg, N J Lassam. N Engl J Med 1998
196
5
13

Genetics of melanoma predisposition.
Nicholas K Hayward. Oncogene 2003
210
5
13

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
P Ciotti, J P Struewing, M Mantelli, A Chompret, M F Avril, P L Santi, M A Tucker, G Bianchi-Scarrà, B Bressac-de Paillerets, A M Goldstein. Am J Hum Genet 2000
65
5
13

Role of the CDKN2A locus in patients with multiple primary melanomas.
Susana Puig, Josep Malvehy, Cèlia Badenas, Anna Ruiz, Dolores Jimenez, Francisco Cuellar, Antoni Azon, Urbá Gonzàlez, Teresa Castel, Antoni Campoy,[...]. J Clin Oncol 2005
106
5
13

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.
N Soufir, J J Lacapere, G Bertrand, E Matichard, R Meziani, D Mirebeau, V Descamps, B Gérard, A Archimbaud, L Ollivaud,[...]. Br J Cancer 2004
29
5
17

A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family.
Stian Knappskog, Jürgen Geisler, Thomas Arnesen, Johan R Lillehaug, Per E Lønning. Genes Chromosomes Cancer 2006
19
5
26

High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
Michela Mantelli, Monica Barile, Paola Ciotti, Paola Ghiorzo, Francesca Lantieri, Lorenza Pastorino, Caterina Catricalà, Gabriella Della Torre, Ugo Folco, Paola Grammatico,[...]. Am J Med Genet 2002
61
5
13

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).
H F Vasen, N A Gruis, R R Frants, P A van Der Velden, E T Hille, W Bergman. Int J Cancer 2000
272
5
13

High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.
A Borg, T Sandberg, K Nilsson, O Johannsson, M Klinker, A Måsbäck, J Westerdahl, H Olsson, C Ingvar. J Natl Cancer Inst 2000
249
5
13

Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations.
A M Goldstein, M C Fraser, J P Struewing, C J Hussussian, K Ranade, D P Zametkin, L S Fontaine, S M Organic, N C Dracopoli, W H Clark. N Engl J Med 1995
487
5
13

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.
Eric Pasmant, Ingrid Laurendeau, Delphine Héron, Michel Vidaud, Dominique Vidaud, Ivan Bièche. Cancer Res 2007
469
5
13

CDKN2A germline mutations in familial pancreatic cancer.
Detlef K Bartsch, Mercedes Sina-Frey, Sven Lang, Anja Wild, Berthold Gerdes, Peter Barth, Ralf Kress, Robert Grützmann, Mario Colombo-Benkmann, Andreas Ziegler,[...]. Ann Surg 2002
120
5
13

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.
M Bahuau, D Vidaud, R B Jenkins, I Bièche, D W Kimmel, B Assouline, J S Smith, B Alderete, J M Cayuela, J P Harpey,[...]. Cancer Res 1998
119
5
13

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.
F Lesueur, M de Lichy, M Barrois, G Durand, J Bombled, M-F Avril, A Chompret, F Boitier, G M Lenoir, B Bressac-de Paillerets,[...]. Br J Cancer 2008
24
5
20

Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy.
Paola Ghiorzo, Sara Gargiulo, Sabina Nasti, Lorenza Pastorino, Linda Battistuzzi, William Bruno, Luigina Bonelli, Paola Taveggia, Vittorio Pugliese, Giacomo Borgonovo,[...]. J Clin Oncol 2007
19
5
26

Selection criteria for genetic assessment of patients with familial melanoma.
Sancy A Leachman, John Carucci, Wendy Kohlmann, Kimberly C Banks, Maryam M Asgari, Wilma Bergman, Giovanna Bianchi-Scarrà, Teresa Brentnall, Brigitte Bressac-de Paillerets, William Bruno,[...]. J Am Acad Dermatol 2009
109
5
13

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations.
N F Box, D L Duffy, W Chen, M Stark, N G Martin, R A Sturm, N K Hayward. Am J Hum Genet 2001
220
4
11

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
Emanuel Yakobson, Shlomit Eisenberg, Ruth Isacson, David Halle, Efrat Levy-Lahad, Raphael Catane, Mark Safro, Vladimir Sobolev, Thomas Huot, Gordon Peters,[...]. Eur J Hum Genet 2003
23
4
17

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
S Auroy, M F Avril, A Chompret, D Pham, A M Goldstein, G Bianchi-Scarrà, T Frebourg, P Joly, A Spatz, C Rubino,[...]. Genes Chromosomes Cancer 2001
51
4
11

Genetic susceptibility in familial melanoma from northeastern Italy.
M T Landi, A M Goldstein, S Tsang, D Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats,[...]. J Med Genet 2004
36
4
11

A mutation hotspot at the p14ARF splice site.
Mark Harland, Claire F Taylor, Philip A Chambers, Kairen Kukalizch, Juliette A Randerson-Moor, Nelleke A Gruis, Femke A de Snoo, Jeanet A C ter Huurne, Alisa M Goldstein, Margaret A Tucker,[...]. Oncogene 2005
53
4
11

Germline mutation of ARF in a melanoma kindred.
Chelsee Hewitt, Chu Lee Wu, Gareth Evans, A Howell, Robert G Elles, Richard Jordan, Philip Sloan, Andrew P Read, Nalin Thakker. Hum Mol Genet 2002
108
4
11

Intronic sequence variants of the CDKN2A gene in melanoma pedigrees.
Mark Harland, Claire F Taylor, Sylvia Bass, Michael Churchman, Juliette A Randerson-Moor, Elizabeth A Holland, Graham J Mann, D Timothy Bishop, Julia A Newton Bishop. Genes Chromosomes Cancer 2005
27
4
14

A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.
Anders Molven, Magne B Grimstvedt, Solrun J Steine, Mark Harland, Marie-Françoise Avril, Nicholas K Hayward, Lars A Akslen. Genes Chromosomes Cancer 2005
71
4
11

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Alisa M Goldstein. Hum Mutat 2004
82
4
11


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.

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