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List of works by Nelleke A Gruis

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

scientific article published on 3 April 2008

A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds

scientific article

A mutation hotspot at the p14ARF splice site

scientific article published in June 2005

A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes

scientific article published on January 2009

A road map for efficient and reliable human genome epidemiology

scientific article published on January 2006

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

scientific article

Aberrant DNA methylation in cutaneous malignancies.

scientific article

Absence of Germline Epimutation of the CDKN2A Gene in Familial Melanoma

article

Acquired melanocytic nevi in childhood and familial melanoma.

scientific article published in January 2014

Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS.

scientific article published on June 2005

Affected members of melanoma‐prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF

scientific article published on 01 May 1997

An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study

scientific article

Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

article

Association of HERV-K and LINE-1 hypomethylation with reduced disease-free survival in melanoma patients

scientific article published on 30 October 2020

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

scientific article

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

scientific article published on 01 December 1995

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines

scientific article published on 01 March 1995

CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.

scientific article published on June 1995

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients

scientific article published in August 2001

Class III β-tubulin, a novel biomarker in the human melanocyte lineage.

scientific article published in April 2013

Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A.

scientific article published on 12 May 2011

Common sequence variants on 20q11.22 confer melanoma susceptibility

scientific article published on 18 May 2008

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

scientific article published on 04 March 2014

Cutaneous squamous cell carcinoma and p53 codon 72 polymorphism: a need for screening?

scientific article

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

scientific article

Effectiveness and causes for failure of surveillance of CDKN2A-mutated melanoma families.

scientific article

Epigenetic inactivation of RASSF1a in uveal melanoma.

scientific article published on February 2007

Epigenetic regulation identifies RASEF as a tumor-suppressor gene in uveal melanoma.

scientific article

Episodic Src activation in uveal melanoma revealed by kinase activity profiling.

scientific article

Excess Cancer Mortality in Six Dutch Pedigrees with the Familial Atypical Multiple Mole-Melanoma Syndrome from 1830 to 1994 ⬇️

scientific article published on May 1, 1998

Expression of Wnt5a and its downstream effector β-catenin in uveal melanoma

scientific article published on 01 December 2007

Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development

scientific article published in September 2003

Familial melanoma: a complex disorder leading to controversy on DNA testing.

scientific article published on January 2003

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

scientific article published on 11 August 2006

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

scientific article

Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development.

scientific article

Gene-specific fluorescence in-situ hybridization analysis on tissue microarray to refine the region of chromosome 20q amplification in melanoma

article

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

article

Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression

scientific article published on May 1995

Genetic testing in familial melanoma: uptake and implications.

scientific article published in August 2008

Genetics of Seven Dutch Familial Atypcial Multiple Mole-Menaloma Syndrome Families: A Review of Linkage Results Including Chromosomes 1 and 9

article

Genetics of familial atypical multiple mole-melanoma (FAMMM) syndrome in The Netherlands: how far have we come?

scientific article published on July 1, 1998

Genetics: what advice for patients who present with a family history of melanoma?

scientific article published on December 2007

Genome-wide analysis of constitutional DNA methylation in familial melanoma

scientific article published on 06 March 2020

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

scientific article published on 28 November 2012

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

scientific journal article

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

Genome-wide promoter methylation analysis identifies epigenetic silencing of MAPK13 in primary cutaneous melanoma

scientific article published on 17 April 2013

Geographical variation in the penetrance of CDKN2A mutations for melanoma

scientific article

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

article

Germline TERT promoter mutations are rare in familial melanoma ⬇️

scientific article published on 3 October 2015

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

scientific article

Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations

scientific article published in January 1998

Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

article

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Histologic features of melanoma associated with CDKN2A genotype.

scientific article

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds

scientific article published on 01 July 1995

Homozygous germline mutation of CDKN2A/p16 and glucose-6-phosphate dehydrogenase deficiency in a multiple melanoma case

scientific article published in April 2003

In-vitro melanoma models: invasive growth is determined by dermal matrix and basement membrane.

scientific article

Increased C-MYC copy numbers on the background of CDKN2A loss is associated with improved survival in nodular melanoma

scientific article published on 15 September 2006

Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families

scientific article published on 01 November 2008

Increased p21-activated kinase-1 expression is associated with invasive potential in uveal melanoma

scientific article published on 01 August 2006

Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study

scientific article

Interplay between TERT promoter mutations and methylation culminates in chromatin accessibility and TERT expression

scientific article published on 08 April 2020

Localization of a novel melanoma susceptibility locus to 1p22

scientific article

Localization of the 9p Melanoma Susceptibility Locus (MLM) to a 2-cM Region between D9S736 and D9S171

article

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

scientific article

Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation

scientific article published in December 2010

Management of melanoma families

scientific article published on 16 April 2010

Melanocortin 1 Receptor (MC1R) Gene Variants are Associated with an Increased Risk for Cutaneous Melanoma Which is Largely Independent of Skin Type and Hair Color

article

Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features

scientific article published in November 2012

Melanocortin 1 receptor function: shifting gears from determining skin and nevus phenotype to fetal growth

scientific article

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

scientific article

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies ⬇️

scientific article published on August 3, 2012

Melanoma risk factors, perceived threat and intentional tanning: an international online survey

scientific article published on May 2010

Melanoma susceptibility genes

article

Multiple agminate Spitz naevi

scientific article

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

scientific article

POT1 loss-of-function variants predispose to familial melanoma

scientific article

Perceptions of genetic research and testing among members of families with an increased risk of malignant melanoma

scientific article published on 21 June 2012

Phenotypic Variation in Familial Melanoma

scientific article published on 01 April 2007

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

Predictors of sun protection behaviors and severe sunburn in an international online study

scientific article published on 19 July 2010

Primary melanoma tumors from CDKN2A mutation carriers do not belong to a distinct molecular subclass

scientific article published on 7 July 2014

Prognostic Significance of Promoter Hypermethylation and Diminished Gene Expression of SYNPO2 in Melanoma ⬇️

scientific article

Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013-2018)

scientific article published on 01 April 2019

Promoter CpG island hypermethylation in dysplastic nevus and melanoma: CLDN11 as an epigenetic biomarker for malignancy

scientific article published on 7 July 2014

Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma.

scientific article

Proteomic analysis of uveal melanoma reveals novel potential markers involved in tumor progression

scientific article published on March 2006

Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma.

scientific article published on January 2008

Risk of cutaneous malignant melanoma in patients with nonfamilial atypical nevi from a pigmented lesions clinic

scientific article published on 01 May 1999

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion ofp16 (p16-Leiden)

scientific article published on 01 September 2000

Skin equivalent: an attractive model to evaluate early melanoma metastasis

scientific article published on 01 April 2000

Skin examination behavior: the role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination

scientific article published on October 2012

Somatic BRAF and NRAS mutations in familial melanomas with known germline CDKN2A status: a GenoMEL study.

scientific article published on 14 June 2013

Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls

scientific article published on 08 April 2009

Surveillance of Second-Degree Relatives from Melanoma Families with a CDKN2A Germline Mutation

scientific article published on 29 July 2013

The Dutch FAMMM family material: Clinical and genetic data ⬇️

scientific article published on January 1, 1992

The Emergence of Networks in Human Genome Epidemiology

article

The effect on melanoma risk of genes previously associated with telomere length

scientific article

The emergence of networks in human genome epidemiology: challenges and opportunities

scholarly article published 18 December 2009

The melanocortin-1-receptor gene is the major freckle gene

article

p16(INK4A)-independence of Epstein-Barr virus-induced cell proliferation and virus latency

scientific article published in June 2004

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