The role of MC1R gene variants and phenotypical features in predicting high nevus count.

Variants in the Melanocortin 1 Receptor (MC1R) gene have been associated with an increased risk of melanoma, but the role in nevus count is unclear. We investigated if specific MC1R gene variants or the number of MC1R gene variants and phenotypical features were associated with nevus count. A total of 494 participants of the 'Leiden skin cancer study' were included and the MC1R gene coding sequence was analysed by single-strand conformation polymorphism analysis followed by sequencing of unknown variants.

High Growth Rate of Pancreatic Ductal Adenocarcinoma in Mutation Carriers.

- mutation carriers have a 20% to 25% risk of developing pancreatic ductal adenocarcinoma (PDAC). Better understanding of the natural course of PDAC might allow the surveillance protocol to be improved. The aims of the study were to evaluate the role of cystic precursor lesions in the development of PDAC and to assess the growth rate.

Unscheduled Visits of Patients with Familial Melanoma to a Pigmented Lesion Clinic: Evaluation of Patients' Characteristics and Suspicious Lesions.

Approximately 10% of all melanomas occur in subjects with a family history of melanoma. This retrospective follow-up study investigated the characteristics of patients with familial melanoma who made unscheduled visits to our pigmented lesions clinic, and the diagnosis of excised lesions. A total of 110 (9%) out of 1,267 patients made at least one unscheduled visit between May 2011 and February 2016.

Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families.

GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi.

Background: Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations.

Methods: We investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions.

Risks of unregulated use of alpha-melanocyte-stimulating hormone analogues: a review.

Recently, the unregulated use of untested synthetic alpha-melanocyte-stimulating hormone (α-MSH) analogues, commonly known as melanotan I and II, appears to have increased. These analogues are primarily used for their tan-stimulating effects. Dermatologists see many patients in their clinic who tan.

[Recognition and follow-up of the atypical naevus: benign marker or precursor of melanoma?].

Dysplastic (atypical) naevi have long been subject to discussion with regard to their nature; even their existence has been doubted. Recently, the atypical naevus has been formally identified by molecular genetic characteristics as an intermediate lesion between banal naevi and melanoma. However, the atypical naevus, as long as it is stable and asymptomatic, is regarded as a benign lesion that does not warrant excision.

Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers.

Purpose: Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis. Hereditary factors play a role in the development of PDAC in 3% to 5% of all patients. Surveillance of high-risk groups, may facilitate detection of PDAC at an early stage.

Total Body Photography as an Aid to Skin Self-examination: A Patient's Perspective.

Skin self-examination can help patients who are at high risk for developing melanoma to become more involved in their own surveillance and treatment. This study examined the use of total body photography as an aid to skin self-examination from the patients' perspective. A total of 179 individuals at high risk for developing melanoma who had undergone total body photography (60.

Development and validation of a melanoma risk score based on pooled data from 16 case-control studies.

Background: We report the development of a cutaneous melanoma risk algorithm based upon seven factors; hair color, skin type, family history, freckling, nevus count, number of large nevi, and history of sunburn, intended to form the basis of a self-assessment Web tool for the general public.

Methods: Predicted odds of melanoma were estimated by analyzing a pooled dataset from 16 case-control studies using logistic random coefficients models. Risk categories were defined based on the distribution of the predicted odds in the controls from these studies.

Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.

The p16-Leiden germline variant in the CDKN2A gene is associated with a high risk of melanoma and pancreatic cancer. The aims of this study were to assess the risk of developing other cancers and to determine whether tobacco use would alter cancer risk in carriers of such a variant. We therefore prospectively evaluated individuals with a p16-Leiden germline variant, participating in a pancreatic surveillance programme, for the occurrence of cancer (n=150).

Cutaneous melanoma: medical specialists' opinions on follow-up and sentinel lymph node biopsy.

Background: The purpose, frequency and content of follow-up (FU) visits have been widely debated for all common malignancies, including melanoma. The aim was to gain insight into Dutch medical specialists' opinions on melanoma FU and to assess their views on sentinel lymph node biopsy (SLNB).

Methods: All members of the Dutch Society of Surgical Oncology and the Dutch Society of Dermatology and Venereology were invited to complete a web-based questionnaire, consisting of 25 questions addressing the following topics: 1) respondent characteristics, 2) knowledge of national melanoma guideline, 3) opinions on melanoma FU, and 4) view on the significance of SLNB.

Acquired melanocytic nevi in childhood and familial melanoma.

Importance: In the surveillance of familial melanoma, the identification of children at greater risk of developing melanoma later in life would serve as a helpful tool.

Objective: To determine whether acquired melanocytic nevi in childhood are an indicator of risk of melanoma in children from families with familial melanoma.

Design, Setting, And Participants: A 20-year follow-up study of a cohort of children from families with familial melanoma.

Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation.

Background: Lifetime melanoma risk of mutation carriers from families with a germline mutation in the CDKN2A gene is estimated to be 67%. The necessity to include family members in a melanoma surveillance program is widely endorsed, but there is no consensus on which family members should be invited.

Methods: In a retrospective follow-up study, we investigated the yield of surveillance of first- and second-degree relatives of melanoma and pancreatic cancer patients from 21 families with the "p16-Leiden" CDKN2A mutation.

[Revision of the national guideline 'Melanoma'].

Melanoma is in the top ten of the most common types of cancer in the Netherlands. Incidence is increasing steadily by about 4% every year. The relative 5-year survival rate for patients with a melanoma with Breslow thickness < 1mm is about 98%.

A variant in FTO shows association with melanoma risk not due to BMI.

We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 × 10(-12), per-allele odds ratio for allele A = 1.

Genome-wide analysis of gene and protein expression of dysplastic naevus cells.

Cutaneous melanoma, a type of skin tumor originating from melanocytes, often develops from premalignant naevoid lesions via a gradual transformation process driven by an accumulation of (epi)genetic lesions. These dysplastic naevi display altered morphology and often proliferation of melanocytes. Additionally, melanocytes in dysplastic naevi show structural mitochondrial and melanosomal alterations and have elevated reactive oxygen species (ROS) levels.