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POT1 loss-of-function variants predispose to familial melanoma
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. HereExpand
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Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls
Background Melanoma risk is related to sun exposure; we have investigated risk variation by tumour site and latitude. Methods We performed a pooled analysis of 15 case–control studies (5700 melanomaExpand
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Diagnosis and treatment of melanoma. European consensus-based interdisciplinary guideline - Update 2016.
Cutaneous melanoma (CM) is potentially the most dangerous form of skin tumour and causes 90% of skin cancer mortality. A unique collaboration of multi-disciplinary experts from the EuropeanExpand
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Serum 25-hydroxyvitamin D3 levels are associated with breslow thickness at presentation and survival from melanoma.
PURPOSE A cohort study was carried out to test the hypothesis that higher vitamin D levels reduce the risk of relapse from melanoma. METHODS A pilot retrospective study of 271 patients withExpand
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Frequent p16-independent inactivation of p14ARF in human melanoma.
BACKGROUND The tumor suppressors p14(ARF) (ARF) and p16(INK4A) (p16) are encoded by overlapping reading frames at the CDKN2A/INK4A locus on chromosome 9p21. In human melanoma, the accumulatedExpand
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Tumour thickness as a predictor of occult lymph node metastases in patients with stage I and II melanoma undergoing sentinel lymph node biopsy
Sentinel lymph node biopsy (SLNB) is a minimally invasive procedure used accurately to stage nodal basins at risk of occult metastases. There are no data as yet to show a survival benefit from SLNBExpand
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Relationship between sun exposure and melanoma risk for tumours in different body sites in a large case-control study in a temperate climate.
AIM A melanoma case-control study was conducted to elucidate the complex relationship between sun exposure and risk. METHODS Nine hundred and sixty population-ascertained cases, 513 population andExpand
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Melanoma and vitamin D
Vitamin D is a fat‐soluble steroid hormone, which is essential to health and for which epidemiological studies suggest a role in autoimmune disease, infections, cardiovascular disease and cancer. ItExpand
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A road map for efficient and reliable human genome epidemiology
Networks of investigators have begun sharing best practices, tools and methods for analysis of associations between genetic variation and common diseases. A Network of Investigator Networks has beenExpand
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Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
BACKGROUND The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivatingExpand
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