Publications by authors named "Anne-Sophie Vesper"
Article Synopsis
- The study aims to analyze various MR imaging factors and other variables that affect the presence of residual glandular tissue in women with a genetic predisposition after undergoing risk-reducing mastectomy.
- A cohort of 81 high-risk women, primarily BRCA mutation carriers, had their breast imaging data and various covariates examined over an average follow-up period of about 63 months.
- Key findings reveal that factors such as breast density, skin flap thickness, surgical technique, preoperative breast volume, and surgeon experience significantly influence the amount of residual glandular tissue left post-surgery, impacting future breast cancer risk assessment.
Endometriosis is a hormone-related, chronic inflammation in women of childbearing age. The aetiology and pathogenesis of endometriosis are not yet fully understood. For other illnesses classed as lifestyle diseases, the link between nutrition and pathogenesis has already been researched and proven.
View Article and Find Full Text PDFThe multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions.
View Article and Find Full Text PDFComparably little is known about breast cancer (BC) risks in women from families tested negative for BRCA1/2 mutations despite an indicative family history, as opposed to BRCA1/2 mutation carriers. We determined the age-dependent risks of first and contralateral breast cancer (FBC, CBC) both in noncarriers and carriers of BRCA1/2 mutations, who participated in an intensified breast imaging surveillance program. The study was conducted between January 1, 2005, and September 30, 2017, at 12 university centers of the German Consortium for Hereditary Breast and Ovarian Cancer.
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