Validity of polygenic risk scores: are we measuring what we think we are?

ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …

Behind the scene: exploiting MC1R in skin cancer risk and prevention

M Manganelli, S Guida, A Ferretta, G Pellacani… - Genes, 2021 - mdpi.com
Melanoma and non-melanoma skin cancers (NMSCs) are the most frequent cancers of the
skin in white populations. An increased risk in the development of skin cancers has been …

Disease risk scores for skin cancers

P Fontanillas, B Alipanahi, NA Furlotte… - Nature …, 2021 - nature.com
We trained and validated risk prediction models for the three major types of skin cancer—
basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma—on a cross …

A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma

M Seviiri, MH Law, JS Ong, P Gharahkhani… - Nature …, 2022 - nature.com
Basal cell carcinoma and squamous cell carcinoma are the most common skin cancers, and
have genetic overlap with melanoma, pigmentation traits, autoimmune diseases, and blood …

Risk prediction models for melanoma: a systematic review on the heterogeneity in model development and validation

I Kaiser, AB Pfahlberg, W Uter, MV Heppt… - International Journal of …, 2020 - mdpi.com
The rising incidence of cutaneous melanoma over the past few decades has prompted
substantial efforts to develop risk prediction models identifying people at high risk of …

[HTML][HTML] Multi-trait genetic analysis identifies autoimmune loci associated with cutaneous melanoma

UE Liyanage, S MacGregor, DT Bishop, J Shi… - Journal of Investigative …, 2022 - Elsevier
Genome-wide association studies (GWAS) have identified a number of risk loci for
cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic …

Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity

R Laskar, A Ferreiro‐Iglesias, DT Bishop… - British Journal of …, 2021 - academic.oup.com
Background Melanoma aetiology has been proposed to have two pathways, which are
determined by naevi and type of sun exposure and related to the anatomical site where …

Skin cancer screening: the importance of identifying high-risk subgroups and the need for US-based population research

MM Asgari, LA Crane - JAMA, 2023 - jamanetwork.com
The US Preventive Services Task Force (USPSTF) initially released its skin cancer
screening recommendations in 1996 and concluded that there was not enough evidence to …

A combined multi-cohort approach reveals novel and known genome-wide selection signatures for wool traits in Merino and Merino-derived sheep breeds

S Megdiche, S Mastrangelo, M Ben Hamouda… - Frontiers in …, 2019 - frontiersin.org
Merino sheep represents a valuable genetic resource worldwide. In this study, we
investigated selection signatures in Merino (and Merino-derived) sheep breeds using …

Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk

T Olafsdottir, SN Stacey, G Sveinbjornsson… - Cancer Research, 2021 - AACR
The success of genome-wide association studies (GWAS) in identifying common, low-
penetrance variant-cancer associations for the past decade is undisputed. However …