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 …

Genome-wide association studies of cancer: current insights and future perspectives

A Sud, B Kinnersley, RS Houlston - Nature Reviews Cancer, 2017 - nature.com
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …

Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts

SR Rashkin, RE Graff, L Kachuri, KK Thai… - Nature …, 2020 - nature.com
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate
carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we …

[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 …

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 …

[PDF][PDF] The somatic genomic landscape of chromophobe renal cell carcinoma

CF Davis, CJ Ricketts, M Wang, L Yang, AD Cherniack… - Cancer cell, 2014 - cell.com
We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell
carcinomas (ChRCCs) on the basis of multidimensional and comprehensive …

[HTML][HTML] TERT promoter mutations in thyroid cancer

R Liu, M Xing - Endocrine-related cancer, 2016 - erc.bioscientifica.com
The 2013 discovery of Telomerase reverse transcriptase (TERT) promoter mutations chr5,
1,295,228 C> T (C228T) and 1,295,250 C> T (C250T) in thyroid cancer represents an …

Epidemiology of basal cell carcinoma: scholarly review

JAC Verkouteren, KHR Ramdas… - British Journal of …, 2017 - academic.oup.com
Basal cell carcinoma (BCC) is the most common cancer in white‐skinned individuals with
increasing incidence rates worldwide. Patients with BCC place a large burden on healthcare …

Realizing the promise of cancer predisposition genes

N Rahman - Nature, 2014 - nature.com
Genes in which germline mutations confer highly or moderately increased risks of cancer
are called cancer predisposition genes. More than 100 of these genes have been identified …

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Y Wang, JD McKay, T Rafnar, Z Wang, MN Timofeeva… - Nature …, 2014 - nature.com
We conducted imputation to the 1000 Genomes Project of four genome-wide association
studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 …