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Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors
<div><h3>Abstract</h3><div><h4>BACKGROUND: </h4><p>An increased breast cancer incidence and poor survival have been reported for women with neurofibromatosis 1 (NF1). To explain the poor survival, we aimed to link the ...
The role of polygenic risk and susceptibility genes in breast cancer over the course of life
Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women in the FinnGen ...
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma
Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen ...
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species ...
Vulvar malignant pleomorphic adenoma in a patient with lichen sclerosus
<p>Lichen sclerosus (LS) is a chronic inflammatory skin disease presenting mainly on the anogenital area. The relationship between female genital LS and squamous cell carcinoma (SCC) has been established, with a lifetime ...