Association analysis identifies 65 new breast cancer risk loci
A genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry finds that heritability of Breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome- wide average.
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer
This study demonstrates the histotype-specific nature of immune infiltration and provides definitive evidence for a dose-response relationship between CD8+ TILs and HGSOC survival and suggests that understanding factors that drive infiltration will be the key to unraveling outcome heterogeneity in this cancer.
DNA methylation outliers in normal breast tissue identify field defects that are enriched in cancer
The DNA methylome of 569 breast tissue samples is analysed and it is demonstrated that normal tissue adjacent to breast cancer is characterized by tens to thousands of epigenetic alterations, and their genomic distribution is non-random.
Regulation of the human endogenous retroviral Syncytin‐1 and cell–cell fusion by the nuclear hormone receptors PPARγ/RXRα in placentogenesis
PPARγ/RXRα signaling in human CT and cell fusions is characterized identifying Syncytin‐1 as a new target gene, which could contribute to pathological human pregnancies.
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
A polygenic risk score (PRS) for TN breast cancer based on known breast cancer risk variants showed a 4-fold difference in risk between the highest and lowest PRS quintiles, suggesting that genetic variation may be used for TN Breast cancer risk prediction.
Impaired cell fusion and differentiation in placentae from patients with intrauterine growth restriction correlate with reduced levels of HERV envelope genes
Fusogenic and non-fusogenic envelope genes are dysregulated in IUGR placentae and may contribute to the etiology of growth restriction in utero.
Maternal extracellular vesicles and platelets promote preeclampsia via inflammasome activation in trophoblasts.
It is strongly suggested that EVs cause placental sterile inflammation and PE through activation of maternal platelets and purinergic inflammasome activation in trophoblast cells, uncovering a novel thromboinflammatory mechanism at the maternal-embryonic interface.
Adhesive blood microsampling systems for steroid measurement via LC–MS/MS in the rat
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
The first genome wide-significant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10−11) is reported, consistent with the hypothesis that endometricrial cancer risk is driven by E2.