Update in genetic susceptibility in melanoma.

PubWeight™: 0.77‹?›

🔗 View Article (PMC 4583600)

Published in Ann Transl Med on September 01, 2015

Authors

Miriam Potrony1, Celia Badenas1, Paula Aguilera1, Joan Anton Puig-Butille1, Cristina Carrera1, Josep Malvehy1, Susana Puig1

Author Affiliations

1: 1 Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain ; 2 Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain ; 3 Molecular Biology and Genetics Department, Melanoma Unit, Hospital Clínic de Barcelona, Barcelona, Spain.

Associated clinical trials:

A Prospective Non Interventional Study on Targeted Therapy for Patients With Unresectable or Metastatic BRAFV600E Mutant Melanoma (TavieSkin) | NCT04911998

Articles cited by this

(truncated to the top 100)

Cancer statistics, 2014. CA Cancer J Clin (2014) 72.81

Final version of 2009 AJCC melanoma staging and classification. J Clin Oncol (2009) 23.08

How shelterin protects mammalian telomeres. Annu Rev Genet (2008) 11.20

Obesity, cigarette smoking, and telomere length in women. Lancet (2005) 8.59

TERT promoter mutations in familial and sporadic melanoma. Science (2013) 7.82

Frequent mutation of BAP1 in metastasizing uveal melanomas. Science (2010) 7.47

Germline p16 mutations in familial melanoma. Nat Genet (1994) 5.59

Global perspectives of contemporary epidemiological trends of cutaneous malignant melanoma. Br J Dermatol (2004) 5.49

Reduced melanoma after regular sunscreen use: randomized trial follow-up. J Clin Oncol (2010) 5.15

MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med (2006) 4.60

Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure. Eur J Cancer (2005) 4.55

Telomeres: protecting chromosomes against genome instability. Nat Rev Mol Cell Biol (2010) 4.23

Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet (2011) 3.91

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53

Meta-analysis of risk factors for cutaneous melanoma: I. Common and atypical naevi. Eur J Cancer (2005) 3.02

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature (2011) 2.96

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet (1996) 2.96

Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science (1992) 2.89

A prospective study of telomere length and the risk of skin cancer. J Invest Dermatol (2008) 2.75

Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst (2002) 2.70

Meta-analysis of risk factors for cutaneous melanoma: III. Family history, actinic damage and phenotypic factors. Eur J Cancer (2005) 2.63

Clinicopathological features of and risk factors for multiple primary melanomas. JAMA (2005) 2.62

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet (2011) 2.61

The effect on melanoma risk of genes previously associated with telomere length. J Natl Cancer Inst (2014) 2.60

High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst (2000) 2.41

POT1 loss-of-function variants predispose to familial melanoma. Nat Genet (2014) 2.40

High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res (2006) 2.40

MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer (2008) 2.37

BAP1 and cancer. Nat Rev Cancer (2013) 2.23

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet (2006) 2.17

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet (2014) 2.08

Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns (2011) 1.92

Cancer in 15- to 29-year-olds by primary site. Oncologist (2006) 1.92

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer (2000) 1.90

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum Mol Genet (2000) 1.85

BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med (2012) 1.76

Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS One (2012) 1.76

Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet (2013) 1.69

Melanoma genetics and the development of rational therapeutics. J Clin Invest (2005) 1.50

Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation. Gastroenterology (2010) 1.49

Role of glutathione S-transferases in melanoma susceptibility: association with GSTP1 rs1695 polymorphism. Br J Dermatol (2012) 1.47

Clinical genetic testing for familial melanoma in Italy: a cooperative study. J Am Acad Dermatol (2009) 1.45

Impact of sunscreens on preventing UVR-induced effects in nevi: in vivo study comparing protection using a physical barrier vs sunscreen. JAMA Dermatol (2013) 1.43

Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res (2008) 1.32

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res (2012) 1.31

Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol (2009) 1.30

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma. Mol Cancer Res (2013) 1.30

Dermatologist detection and skin self-examination are associated with thinner melanomas: results from a survey of the Italian Multidisciplinary Group on Melanoma. Arch Dermatol (2003) 1.27

Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden. Int J Cancer (2011) 1.25

CDKN2A/p16 genetic test reporting improves early detection intentions and practices in high-risk melanoma families. Cancer Epidemiol Biomarkers Prev (2008) 1.22

Role of the CDKN2A locus in patients with multiple primary melanomas. J Clin Oncol (2005) 1.22

Measuring the societal burden of cancer: the cost of lost productivity due to premature cancer-related mortality in Europe. Int J Cancer (2014) 1.20

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. J Natl Cancer Inst (2014) 1.19

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. Genes Chromosomes Cancer (2013) 1.18

A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet (2013) 1.17

Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clin Genet (2014) 1.15

MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. Eur J Cancer (2010) 1.10

Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma. J Am Acad Dermatol (2011) 1.09

Population-based analysis of prognostic factors and survival in familial melanoma. J Clin Oncol (2005) 1.04

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet (2013) 1.04

Melanocortin 1 receptor variants: functional role and pigmentary associations. Photochem Photobiol (2011) 1.04

Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma. Arch Dermatol (2000) 1.03

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. Pigment Cell Melanoma Res (2012) 1.03

Hereditary uveal melanoma: a report of a germline mutation in BAP1. Genes Chromosomes Cancer (2013) 1.03

Pigmentation-related genes and their implication in malignant melanoma susceptibility. Exp Dermatol (2009) 1.02

Biological consequences of cyclobutane pyrimidine dimers. J Photochem Photobiol B (2001) 1.02

Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy. BMC Cancer (2009) 1.02

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet (2014) 1.01

High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. J Med Genet (2014) 1.01

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. J Med Genet (2012) 1.00

Clinical germline genetic testing for melanoma. Lancet Oncol (2004) 1.00

Melanoma genetic counseling and test reporting improve screening adherence among unaffected carriers 2 years later. Cancer Epidemiol Biomarkers Prev (2013) 0.99

Cellular senescence and DNA repair. Exp Cell Res (2006) 0.99

Melanoma genetics: an update on risk-associated genes. Hematol Oncol Clin North Am (2009) 0.98

Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers. J Natl Cancer Inst (2012) 0.96

Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. BMC Cancer (2013) 0.95

Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing. Genet Med (2014) 0.95

Genetics of familial melanoma: 20 years after CDKN2A. Pigment Cell Melanoma Res (2015) 0.95

Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. J Invest Dermatol (2013) 0.95

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers. PLoS One (2013) 0.95

Germline melanoma susceptibility and prognostic genes: a review of the literature. J Am Acad Dermatol (2012) 0.93

Melanomas detected in a follow-up program compared with melanomas referred to a melanoma unit. Arch Dermatol (2011) 0.91

Lessons from the skin--cutaneous features of familial cancer. Lancet Oncol (2008) 0.91

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling. J Am Acad Dermatol (2014) 0.90

High constant incidence rates of second cutaneous melanomas. Int J Cancer (2005) 0.90

The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. Clin Med Insights Oncol (2014) 0.89

Ultraviolet radiation of melanocytic nevi: a dermoscopic study. Arch Dermatol (1998) 0.88

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. Br J Dermatol (2011) 0.88

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. Genes Chromosomes Cancer (2001) 0.87

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma. Fam Cancer (2014) 0.86

UV-irradiated melanocytic nevi simulating melanoma in situ. Am J Dermatopathol (1995) 0.86

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. PLoS One (2015) 0.85

Genetic counseling in melanoma. Dermatol Ther (2012) 0.85

CDKN2A mutations in melanoma families from Uruguay. Br J Dermatol (2009) 0.84

BAP1 germline mutation in two first grade family members with uveal melanoma. Br J Ophthalmol (2013) 0.84

Critical effects of intense sun exposure on the expression of epiluminescence microscopy features of acquired melanocytic nevi. Arch Dermatol (1997) 0.80

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. Cancer Epidemiol (2011) 0.80

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family. Pigment Cell Melanoma Res (2012) 0.79

Germline CDKN2A/p16 mutations are rare in multiple primary and familial malignant melanoma in German patients. J Dermatol Sci (2007) 0.79

HLA class II polymorphisms in Spanish melanoma patients: homozygosity for HLA-DQA1 locus can be a potential melanoma risk factor. Br J Dermatol (2006) 0.78