The journey from melanocytes to melanoma

PP Centeno, V Pavet, R Marais - Nature Reviews Cancer, 2023 - nature.com
Over the past decade, melanoma has led the field in new cancer treatments, with impressive
gains in on-treatment survival but more modest improvements in overall survival. Melanoma …

The genetics of human skin and hair pigmentation

WJ Pavan, RA Sturm - Annual review of genomics and human …, 2019 - annualreviews.org
Human skin and hair color are visible traits that can vary dramatically within and across
ethnic populations. The genetic makeup of these traits—including polymorphisms in the …

Objectives, design and main findings until 2020 from the Rotterdam Study

MA Ikram, G Brusselle, M Ghanbari… - European journal of …, 2020 - Springer
Abstract The Rotterdam Study is an ongoing prospective cohort study that started in 1990 in
the city of Rotterdam, The Netherlands. The study aims to unravel etiology, preclinical …

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

MT Landi, DT Bishop, S MacGregor, MJ Machiela… - Nature …, 2020 - nature.com
Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis
genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly …

Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans

Y Feng, N Xie, F Inoue, S Fan, J Saskin, C Zhang… - Nature Genetics, 2024 - nature.com
Skin color is highly variable in Africans, yet little is known about the underlying molecular
mechanism. Here we applied massively parallel reporter assays to screen 1,157 candidate …

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

K Adhikari, J Mendoza-Revilla, A Sohail… - Nature …, 2019 - nature.com
We report a genome-wide association scan in> 6,000 Latin Americans for pigmentation of
skin and eyes. We found eighteen signals of association at twelve genomic regions. These …

Multivariate genomic scan implicates novel loci and haem metabolism in human ageing

PRHJ Timmers, JF Wilson, PK Joshi… - Nature communications, 2020 - nature.com
Ageing phenotypes, such as years lived in good health (healthspan), total years lived
(lifespan), and survival until an exceptional old age (longevity), are of interest to us all but …

[HTML][HTML] Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age

M Kayser, W Branicki, W Parson, C Phillips - Forensic Science International …, 2023 - Elsevier
Abstract Forensic DNA Phenotyping (FDP) comprises the prediction of a person's externally
visible characteristics regarding appearance, biogeographic ancestry and age from DNA of …

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

M Simcoe, A Valdes, F Liu, NA Furlotte, DM Evans… - Science …, 2021 - science.org
Human eye color is highly heritable, but its genetic architecture is not yet fully understood.
We report the results of the largest genome-wide association study for eye color to date …

GWAS in cancer: progress and challenges

B Liang, H Ding, L Huang, H Luo, X Zhu - Molecular Genetics and …, 2020 - Springer
The genome-wide association study (GWAS) is an effective method to detect single-
nucleotide polymorphisms (SNPs) of multiple individual genes based on linkage …