Analysis and interpretation of the impact of missense variants in cancer
Large scale genome sequencing allowed the identification of a massive number of genetic
variations, whose impact on human health is still unknown. In this review we analyze, by an …
variations, whose impact on human health is still unknown. In this review we analyze, by an …
Early-onset ovarian cancer< 30 years: what do we know about its genetic predisposition?
K Horackova, M Janatova, P Kleiblova, Z Kleibl… - International Journal of …, 2023 - mdpi.com
Ovarian cancer (OC) is one of the leading causes of cancer-related deaths in women. Most
patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult …
patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult …
More than bad luck: cancer and aging are linked to replication-driven changes to the epigenome
CJ Minteer, K Thrush, J Gonzalez, P Niimi… - Science …, 2023 - science.org
Aging is a leading risk factor for cancer. While it is proposed that age-related accumulation
of somatic mutations drives this relationship, it is likely not the full story. We show that aging …
of somatic mutations drives this relationship, it is likely not the full story. We show that aging …
Comparative genomics provides etiologic and biological insight into melanoma subtypes
Melanoma is a cancer of melanocytes, with multiple subtypes based on body site location.
Cutaneous melanoma is associated with skin exposed to ultraviolet radiation; uveal …
Cutaneous melanoma is associated with skin exposed to ultraviolet radiation; uveal …
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic
pathologies with or without tumour activity is essential for improving treatment of drug …
pathologies with or without tumour activity is essential for improving treatment of drug …
Evaluating the impact of age on immune checkpoint therapy biomarkers
Both tumors and aging alter the immune landscape of tissues. These interactions may play
an important role in tumor progression among elderly patients and may suggest …
an important role in tumor progression among elderly patients and may suggest …
FADS2 function at the major cancer hotspot 11q13 locus alters fatty acid metabolism in cancer
KSD Kothapalli, HG Park, NSL Kothapalli… - Progress in Lipid …, 2023 - Elsevier
Dysregulation of fatty acid metabolism and de novo lipogenesis is a key driver of several
cancer types through highly unsaturated fatty acid (HUFA) signaling precursors such as …
cancer types through highly unsaturated fatty acid (HUFA) signaling precursors such as …
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Epidemiological studies suggest that individuals with neurodevelopmental disorders (NDDs)
are more prone to develop certain types of cancer. Notably, however, the case statistics can …
are more prone to develop certain types of cancer. Notably, however, the case statistics can …
Germline sequencing improves tumor-only sequencing interpretation in a precision genomic study of patients with pediatric solid tumor
PURPOSE Molecular tumor profiling is becoming a routine part of clinical cancer care,
typically involving tumor-only panel testing without matched germline. We hypothesized that …
typically involving tumor-only panel testing without matched germline. We hypothesized that …
Somatic mutational profiles and germline polygenic risk scores in human cancer
Background The mutational profile of cancer reflects the activity of the mutagenic processes
which have been operative throughout the lineage of the cancer cell. These processes leave …
which have been operative throughout the lineage of the cancer cell. These processes leave …