PMID- 28146043
DCOM- 20180312
LR  - 20180618
IS  - 1473-5636 (Electronic)
IS  - 0960-8931 (Linking)
VI  - 27
IP  - 3
DP  - 2017 Jun
TI  - Characterization of melanoma susceptibility genes in high-risk patients from
      Central Italy.
PG  - 258-267
LID - 10.1097/CMR.0000000000000323 [doi]
AB  - Genetic susceptibility to cutaneous melanoma has been investigated in Italian
      high-risk melanoma patients from different geographical regions. CDKN2A, CDK4,
      and MC1R genes have been screened in most studies, MITF and POT1 were screened in
      only one study, and none analyzed the TERT promoter. We carried out a mutational 
      analysis of CDKN2A, CDK4 exon 2, POT1 p.S270N, MITF exon 10, MC1R, and the TERT
      promoter in 106 high-risk patients with familial melanoma (FM) and sporadic
      multiple primary melanoma (spMPM) from Central Italy and evaluated mutations
      according to the clinicopathological characteristics of patients and lesions. In 
      FM, CDKN2A mutations were detected in 8.3% of the families, including one
      undescribed exon 1beta mutation (p.T31M), and their prevalence increased with the
      number of affected relatives within the family. MC1R variants were identified in 
      65% of the patients and the TERT rs2853669 promoter polymorphism was identified
      in 58% of the patients. A novel synonymous mutation detected in MITF exon 10
      (c.861A>G, p.E287E), although predicted as a splice site mutation by
      computational tools, could not functionally be confirmed to alter splicing. For
      spMPM, 3% carried CDKN2A mutations, 79% carried MC1R variants, and 47% carried
      the TERT rs2853669 promoter polymorphism. MC1R variants were associated with fair
      skin type and light hair color both in FM and in spMPM, and with a reduction of
      age at diagnosis in FM patients. Mutations in CDK4 exon 2 and the POT1 p.S270N
      mutation were not detected. A low frequency of CDKN2A mutations and a high
      prevalence of MC1R variants characterize high-risk melanoma patients from Central
FAU - Pellegrini, Cristina
AU  - Pellegrini C
AD  - Departments of aDermatology bOncology, University of L'Aquila, L'Aquila, Italy
      cDepartment of Dermatology, Catholic University of the Sacred Heart, Rome, Italy 
      dDepartment of Dermatology, Hopital Erasme, Universite Libre de Bruxelles,
      Brussels, Belgium eDivision of Cancer Epidemiology and Genetics, National Cancer 
      Institute, NIH, Bethesda, Maryland, USA.
FAU - Maturo, Maria Giovanna
AU  - Maturo MG
FAU - Martorelli, Claudia
AU  - Martorelli C
FAU - Suppa, Mariano
AU  - Suppa M
FAU - Antonini, Ambra
AU  - Antonini A
FAU - Kostaki, Dimitra
AU  - Kostaki D
FAU - Verna, Lucilla
AU  - Verna L
FAU - Landi, Maria Teresa
AU  - Landi MT
FAU - Peris, Ketty
AU  - Peris K
FAU - Fargnoli, Maria Concetta
AU  - Fargnoli MC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Melanoma Res
JT  - Melanoma research
JID - 9109623
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Biomarkers, Tumor/*genetics
MH  - Female
MH  - Follow-Up Studies
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Italy/epidemiology
MH  - Male
MH  - Melanoma/*genetics/pathology
MH  - Middle Aged
MH  - *Mutation
MH  - Prognosis
MH  - Skin Neoplasms/*genetics/pathology
MH  - Young Adult
EDAT- 2017/02/02 06:00
MHDA- 2018/03/13 06:00
CRDT- 2017/02/02 06:00
PHST- 2017/02/02 06:00 [pubmed]
PHST- 2018/03/13 06:00 [medline]
PHST- 2017/02/02 06:00 [entrez]
AID - 10.1097/CMR.0000000000000323 [doi]
PST - ppublish
SO  - Melanoma Res. 2017 Jun;27(3):258-267. doi: 10.1097/CMR.0000000000000323.