So far, two genes associated with familial melanoma have been identified, accounting for a
minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of …

We have previously demonstrated that haplotypes of three single nucleotide polymorphisms
(SNPs) within the first intron of the OCA2 gene are extremely strongly associated with …

Deleterious germline variants in CDKN2A account for around 40% of familial melanoma
cases 1 , and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been …

Background MicroRNAs (miRNAs) are 18–23 nucleotide non-coding RNAs that regulate
gene expression in a sequence specific manner. Little is known about the repertoire and …

We sequenced eight melanoma exomes to identify new somatic mutations in metastatic
melanoma. Focusing on the mitogen-activated protein (MAP) kinase kinase kinase (MAP3K) …

To identify microRNAs potentially involved in melanomagenesis, we compared microRNA
expression profiles between melanoma cell lines and cultured melanocytes. The most …

Background: The shelterin complex protects chromosomal ends by regulating how the
telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of …

Mutations of the MEN1 gene, encoding the tumor suppressor menin, predispose individuals
to the cancer syndrome multiple endocrine neoplasia type 1, characterized by the …

The overall 5-year survival for melanoma is 91%. However, if distant metastasis occurs (stage
IV), cure rates are <15%. Hence, melanoma detection in earlier stages (stages I–III) …

To identify ‘melanoma-specific’microRNAs (miRNAs) we used an unbiased microRNA
profiling approach to comprehensively study cutaneous melanoma in relation to other solid …