ArticleBMC cancer2009
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
Article in BMC cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 51 citations in OpenAlex.
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- ERBB1/2/3 Expression, Prognosis, and Immune Infiltration in Cutaneous Melanoma.Frontiers in genetics · 2021Article
- A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.International journal of molecular sciences · 2020Article
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- Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.Journal of translational medicine · 2019Article
- Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.BMC cancer · 2019Article
- Article
- Vitamin D status and risk for malignant cutaneous melanoma: recent advances.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2017Review
- Prognostic impact of KRAS, NRAS, BRAF, and PIK3CA mutations in primary colorectal carcinomas: a population-based study.Journal of translational medicine · 2016Article
- Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?Cancer biology & therapy · 2016Article
- Update in genetic susceptibility in melanoma.Annals of translational medicine · 2015Review
- Epidemiological and genetic factors underlying melanoma development in Italy.Melanoma management · 2015Review
- MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project.International journal of cancer · 2015Article
- Activating PIK3CA mutations coexist with BRAF or NRAS mutations in a limited fraction of melanomas.Journal of translational medicine · 2015Article
- Heterogeneous distribution of BRAF/NRAS mutations among Italian patients with advanced melanoma.Journal of translational medicine · 2013Article
- The absence of the ERBB4 hotspot mutations in melanomas in patients from southern China.Chinese journal of cancer · 2013Article
- Primary dermal melanoma in a patient with a history of multiple malignancies: a case report with molecular characterization.Case reports in dermatology · 2013Article
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral genetic alterations have been demonstrated to contribute to the development and progression of melanoma. In this study, we further investigated the impact of key-regulator genes in susceptibility and pathogenesis of such a disease.
methodsA large series (N = 846) of sporadic and familial cases originating from South Italy was screened for germline mutations in p16(CDKN2A), BRCA2, and MC1R genes by DHPLC analysis and automated DNA sequencing. Paired primary melanomas and lymph node metastases from same patients (N = 35) as well as melanoma cell lines (N = 18) were analyzed for somatic mutations in NRAS, BRAF, and p16(CDKN2A) genes.
resultsFor melanoma susceptibility, investigations at germline level indicated that p16(CDKN2A) was exclusively mutated in 16/545 (2.9%) non-Sardinian patients, whereas BRCA2 germline mutations were observed in 4/91 (4.4%) patients from North Sardinia only. Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia. Regarding genetic events involved in melanoma pathogenesis at somatic level, mutually-exclusive mutations of NRAS and BRAF genes were observed at quite same rate (about two thirds) in cultured and in vivo melanomas (either primary or metastatic lesions). Conversely, p16(CDKN2A) gene alterations were observed at increased rates moving from primary to metastatic melanomas and melanoma cell lines. Activation of the ERK gene product was demonstrated to be consistently induced by a combination of molecular alterations (NRAS/BRAF mutations and p16(CDKN2A) silencing).
conclusionOur findings further clarified that: a) mutation prevalence in melanoma susceptibility genes may vary within each specific geographical area; b) multiple molecular events are accumulating during melanomagenesis.
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