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. 2017 May 2;8(18):29751-29759.
doi: 10.18632/oncotarget.12777.

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family

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Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family

Simona De Summa et al. Oncotarget. .

Abstract

Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.From the analysis of the pedigree, we were able to identify a "protective" haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model.

Keywords: MGMT; albinism; family study; multiple primary melanoma; susceptibility.

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Figures

Figure 1
Figure 1. Pedigree including the mutational results
Figure 2
Figure 2
A. Dendrogram of the phylogenetic analysis from which the principal node was extracted to show B. the alignment of the protein sequences of the most similar species.
Figure 3
Figure 3. Tridimensional visualization of MGMT p.Ile174Val (I174V)

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