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 …

TERT—regulation and roles in cancer formation

M Dratwa, B Wysoczańska, P Łacina, T Kubik… - Frontiers in …, 2020 - frontiersin.org
Telomerase reverse transcriptase (TERT) is a catalytic subunit of telomerase. Telomerase
complex plays a key role in cancer formation by telomere dependent or independent …

DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits

M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

AG Bick, JS Weinstock, SK Nandakumar, CP Fulco… - Nature, 2020 - nature.com
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

The landscape of tolerated genetic variation in humans and primates

H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

[HTML][HTML] Epidemiology of ovarian cancer: a review

BM Reid, JB Permuth, TA Sellers - Cancer biology & medicine, 2017 - ncbi.nlm.nih.gov
Ovarian cancer (OC) is the seventh most commonly diagnosed cancer among women in the
world and the tenth most common in China. Epithelial OC is the most predominant …

[HTML][HTML] Genomic basis for RNA alterations in cancer

PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …

Role of telomeres and telomerase in aging and cancer

JW Shay - Cancer discovery, 2016 - AACR
Telomeres progressively shorten throughout life. A hallmark of advanced malignancies is
the ability for continuous cell divisions that almost universally correlates with the stabilization …

Telomeres and telomere length: a general overview

N Srinivas, S Rachakonda, R Kumar - Cancers, 2020 - mdpi.com
Telomeres are highly conserved tandem nucleotide repeats that include proximal double-
stranded and distal single-stranded regions that in complex with shelterin proteins afford …

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar… - Nature …, 2017 - nature.com
To identify common alleles associated with different histotypes of epithelial ovarian cancer
(EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC …