Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

The role of telomeres in human disease

M Armanios - Annual review of genomics and human genetics, 2022 - annualreviews.org
Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades,
it has informed understanding of common disease mechanisms with broad implications for …

Sha** human telomeres: from shelterin and CST complexes to telomeric chromatin organization

CJ Lim, TR Cech - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The regulation of telomere length in mammals is crucial for chromosome end-cap** and
thus for maintaining genome stability and cellular lifespan. This process requires …

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

OS Burren, RS Dhindsa, SVV Deevi, S Wen, A Nag… - Nature Genetics, 2024 - nature.com
Telomeres protect chromosome ends from damage and their length is linked with human
disease and aging. We developed a joint telomere length metric, combining quantitative …

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 …

Melanocytic nevi and melanoma: unraveling a complex relationship

WE Damsky, M Bosenberg - Oncogene, 2017 - nature.com
Approximately 33% of melanomas are derived directly from benign, melanocytic nevi.
Despite this, the vast majority of melanocytic nevi, which typically form as a result of BRAF …

Telomere-driven diseases and telomere-targeting therapies

P Martínez, MA Blasco - The Journal of cell biology, 2017 - pmc.ncbi.nlm.nih.gov
Telomeres, the protective ends of linear chromosomes, shorten throughout an individual's
lifetime. Telomere shortening is proposed to be a primary molecular cause of aging. Short …

Update in genetic susceptibility in melanoma

M Potrony, C Badenas, P Aguilera… - Annals of …, 2015 - pmc.ncbi.nlm.nih.gov
Melanoma is the most deadly of the common skin cancers and its incidence is rapidly
increasing. Approximately 10% of cases occur in a familial context. To date, cyclin …

Hereditary cancer syndromes: a comprehensive review with a visual tool

M Garutti, L Foffano, R Mazzeo, A Michelotti, L Da Ros… - Genes, 2023 - mdpi.com
Hereditary cancer syndromes account for nearly 10% of cancers even though they are often
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …

Germline mutations predisposing to melanoma

A Toussi, N Mans, J Welborn… - Journal of cutaneous …, 2020 - Wiley Online Library
Nearly 15% of melanomas occur in patients with a family history and a subset of these
patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations …