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 …
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
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 …
skin in white populations. An increased risk in the development of skin cancers has been …
Disease risk scores for skin cancers
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 …
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
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 …
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 …
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
Genome-wide association studies (GWAS) have identified a number of risk loci for
cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic …
cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic …
Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity
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 …
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 …
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 …
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 …
penetrance variant-cancer associations for the past decade is undisputed. However …