• Mutation; HGNC; HGNC:904; AXIN2; Simple; p.Thr672_Arg675del (c.2013_2024del); ClinVar=VCV000182018; Zygosity=Heterozygous; Note=Germline (PubMed=18384130).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Arg (c.1798_1799delGTinsAG); ClinVar=VCV000375940; Zygosity=Unspecified (PubMed=19799798; PubMed=29492214).
  
• Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Ser45Phe (c.134C>T); ClinVar=VCV000017588; Zygosity=Heterozygous (PubMed=18384130).
  

PubMed=11121133; DOI=10.1046/j.1523-1747.2000.00199.x
Pedro M. Lacal, Cristina M. Failla, Elena Pagani, Teresa Odorisio, Cataldo Schietroma, Sabrina Falcinelli, Giovanna Zambruno, Stefania D'Atri;
Human melanoma cells secrete and respond to placenta growth factor and vascular endothelial growth factor.
J. Invest. Dermatol. 115:1000-1007(2000)

PubMed=11851879; DOI=10.1046/j.0022-202x.2001.01611.x
Ester Alvino, Giancarlo Marra, Elena Pagani, Sabrina Falcinelli, Rita Pepponi, Claudia Perrera, Ritva Haider, Daniele Castiglia, Giulio Ferranti, Enzo Bonmassar, Josef Jiricny ...Show all 13 authors... , Giovanna Zambruno, Stefania D'Atri; Show fewer authors
High-frequency microsatellite instability is associated with defective DNA mismatch repair in human melanoma.
J. Invest. Dermatol. 118:79-86(2002)

PubMed=12696065; DOI=10.1002/gcc.10193
Daniele Castiglia, Elena Pagani, Ester Alvino, Patrizia Vernole, Giancarlo Marra, Elda Cannavo, Josef Jiricny, Giovanna Zambruno, Stefania D'Atri;
Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma.
Genes Chromosomes Cancer 37:165-175(2003)

PubMed=18384130; DOI=10.1002/gcc.20567
Daniele Castiglia, Silvia Bernardini, Ester Alvino, Elena Pagani, Naomi De Luca, Sabrina Falcinelli, Alberto Pacchiarotti, Enzo Bonmassar, Giovanna Zambruno, Stefania D'Atri;
Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma.
Genes Chromosomes Cancer 47:614-624(2008)

PubMed=19799798; DOI=10.1186/1471-2407-9-352; PMCID=PMC2763007
Milena Casula, Antonio Muggiano, Antonio Cossu, Mario Budroni, Corrado Caraco, Paolo Antonio Ascierto, Elena Pagani, Ignazio Stanganelli, Sergio Canzanella, Maria Cristina Sini, Grazia Palomba, Giuseppe Palmieri;
Italian Melanoma Intergroup (IMI)
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
BMC Cancer 9:352.1-352.11(2009)

PubMed=21424129; DOI=10.3892/or.2011.1220
Antonella Manca, Maria Cristina Sini, Francesco Izzo, Paolo Antonio Ascierto, Fabiana Tatangelo, Gerardo Botti, Giusy Gentilcore, Marilena Capone, Nicola Mozzillo, Carla Rozzo, Antonio Cossu ...Show all 13 authors... , Francesco Tanda, Giuseppe Palmieri; Show fewer authors
Induction of arginosuccinate synthetase (ASS) expression affects the antiproliferative activity of arginine deiminase (ADI) in melanoma cells.
Oncol. Rep. 25:1495-1502(2011)

PubMed=29492214; DOI=10.18632/oncotarget.23989; PMCID=PMC5823576
Maria Cristina Sini, Valentina Doneddu, Panagiotis Paliogiannis, Milena Casula, Maria Colombino, Antonella Manca, Gerardo Botti, Paolo Antonio Ascierto, Amelia Lissia, Antonio Cossu, Giuseppe Palmieri;
Genetic alterations in main candidate genes during melanoma progression.
Oncotarget 9:8531-8541(2018)