Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics
HE Speedy, R Beekman, V Chapaprieta… - Nature …, 2019 - nature.com
Genome-wide association studies have provided evidence for inherited genetic
predisposition to chronic lymphocytic leukemia (CLL). To gain insight into the mechanisms …
predisposition to chronic lymphocytic leukemia (CLL). To gain insight into the mechanisms …
Typical enhancers, super-enhancers, and cancers
MA Koutsi, M Pouliou, L Champezou, G Vatsellas… - Cancers, 2022 - mdpi.com
Simple Summary The cancer genome has been exhaustively studied upon the advent of
Next-Generation Sequencing technologies. Coding and non-coding sequences have been …
Next-Generation Sequencing technologies. Coding and non-coding sequences have been …
Machine learning of three-dimensional protein structures to predict the functional impacts of genome variation
K Shukla, K Idanwekhai, M Naradikian… - Journal of Chemical …, 2024 - ACS Publications
Research in the human genome sciences generates a substantial amount of genetic data for
hundreds of thousands of individuals, which concomitantly increases the number of variants …
hundreds of thousands of individuals, which concomitantly increases the number of variants …
Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG
Genome-wide association studies have identified 270 loci conferring risk for prostate cancer
(PCa), yet the underlying biology and clinical impact remain to be investigated. Here we …
(PCa), yet the underlying biology and clinical impact remain to be investigated. Here we …
Single-cell epigenomics reveals mechanisms of cancer progression
LM LaFave, RE Savage… - Annual Review of Cancer …, 2022 - annualreviews.org
Cancer initiation is driven by the cooperation between genetic and epigenetic aberrations
that disrupt gene regulatory programs critical to maintaining specialized cellular functions …
that disrupt gene regulatory programs critical to maintaining specialized cellular functions …
Going to extremes: determinants of extraordinary response and survival in patients with cancer
FAM Saner, A Herschtal, BH Nelson, A deFazio… - Nature Reviews …, 2019 - nature.com
Research into factors affecting treatment response or survival in patients with cancer
frequently involves cohorts that span the most common range of clinical outcomes, as such …
frequently involves cohorts that span the most common range of clinical outcomes, as such …
Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci
K Labreche, B Kinnersley, G Berzero… - Acta …, 2018 - Springer
Recent genome-wide association studies of glioma have led to the discovery of single
nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous …
nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous …
[PDF][PDF] Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas
N Välimäki, V Jokinen, T Cajuso, H Kuisma… - The American Journal of …, 2023 - cell.com
Uterine leiomyomas (ULs) are benign smooth muscle tumors that are common in
premenopausal women. Somatic alterations in MED12, HMGA2, FH, genes encoding …
premenopausal women. Somatic alterations in MED12, HMGA2, FH, genes encoding …
A genome‐wide association study of endoxifen serum concentrations and adjuvant tamoxifen efficacy in early‐stage breast cancer patients
AB Sanchez‐Spitman, S Böhringer… - Clinical …, 2024 - Wiley Online Library
Tamoxifen is part of the standard of care of endocrine therapy for adjuvant treatment of
breast cancer. However, survival outcomes with tamoxifen are highly variable. The …
breast cancer. However, survival outcomes with tamoxifen are highly variable. The …
Evaluating polygenic risk scores in assessing risk of nine solid and hematologic cancers in European descendants
J Choi, G Jia, W Wen, J Long… - International journal of …, 2020 - Wiley Online Library
Genome‐wide association studies (GWAS) have identified many genetic risk variants for
cancers. The utility of these variants in assessing risk of esophageal, gastric and …
cancers. The utility of these variants in assessing risk of esophageal, gastric and …