• 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
Lacal P.M., Failla C.M., Pagani E., Odorisio T., Schietroma C., Falcinelli S., Zambruno G., D'Atri S.
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
Alvino E., Marra G., Pagani E., Falcinelli S., Pepponi R., Perrera C., Haider R., Castiglia D., Ferranti G., Bonmassar E., Jiricny J., Zambruno G., D'Atri S.
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
Castiglia D., Pagani E., Alvino E., Vernole P., Marra G., Cannavo E., Jiricny J., Zambruno G., D'Atri S.
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
Castiglia D., Bernardini S., Alvino E., Pagani E., De Luca N., Falcinelli S., Pacchiarotti A., Bonmassar E., Zambruno G., D'Atri S.
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
Casula M., Muggiano A., Cossu A., Budroni M., Caraco C., Ascierto P.A., Pagani E., Stanganelli I., Canzanella S., Sini M.C., Palomba G., Palmieri G.
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
Manca A., Sini M.C., Izzo F., Ascierto P.A., Tatangelo F., Botti G., Gentilcore G., Capone M., Mozzillo N., Rozzo C., Cossu A., Tanda F., Palmieri G.
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
Sini M.C., Doneddu V., Paliogiannis P., Casula M., Colombino M., Manca A., Botti G., Ascierto P.A., Lissia A., Cossu A., Palmieri G.
Genetic alterations in main candidate genes during melanoma progression.
Oncotarget 9:8531-8541(2018)