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Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.
Int J Cancer
February 2025
Department of Gynaecology, Hannover Medical School, Hannover, Germany.
While cervical cancer is associated with a persistent human papillomavirus (HPV) infection, the progression to cancer is influenced by genomic risk factors that have remained largely obscure. Pathogenic variants in genes of the homology-directed repair (HDR) or mismatch repair (MMR) are known to predispose to diverse tumour entities including breast and ovarian cancer (HDR) or colon and endometrial cancer (MMR). We here investigate the spectrum of HDR and MMR germline variants in cervical cancer, with particular focus on the HPV status and histological subgroups.
View Article and Find Full Text PDFIntegrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
Am J Hum Genet
June 2024
Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Electronic address:
To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10).
View Article and Find Full Text PDFATF3 characterizes aggressive drug-tolerant persister cells in HGSOC.
Cell Death Dis
April 2024
Robert Bosch Hospital, Auerbachstr. 110, 70376, Stuttgart, Germany.
High-grade serous ovarian cancer (HGSOC) represents the most common and lethal subtype of ovarian cancer. Despite initial response to platinum-based standard therapy, patients commonly suffer from relapse that likely originates from drug-tolerant persister (DTP) cells. We generated isogenic clones of treatment-naïve and cisplatin-tolerant persister HGSOC cells.
View Article and Find Full Text PDFProtein intake and cancer: an umbrella review of systematic reviews for the evidence-based guideline of the German Nutrition Society.
Eur J Nutr
August 2024
Molecular Epidemiology Research Group, Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association, Robert-Rössle-Straße 10, 13125, Berlin, Germany.
Purpose: It has been proposed that a higher habitual protein intake may increase cancer risk, possibly via upregulated insulin-like growth factor signalling. Since a systematic evaluation of human studies on protein intake and cancer risk based on a standardised assessment of systematic reviews (SRs) is lacking, we carried out an umbrella review of SRs on protein intake in relation to risks of different types of cancer.
Methods: Following a pre-specified protocol (PROSPERO: CRD42018082395), we retrieved SRs on protein intake and cancer risk published before January 22th 2024, and assessed the methodological quality and outcome-specific certainty of the evidence using a modified version of AMSTAR 2 and NutriGrade, respectively.
Selective peripheral tissue response to high testosterone levels in an infertile woman without virilization signs.
Endocrinol Diabetes Metab Case Rep
April 2024
Kaplan Medical Center, Diabetes, Endocrinology and Metabolic Disease Institute, Hebrew University of Jerusalem, Medical School, Rehovot, Israel.
Summary: Total testosterone, which is peripherally converted to its biologically active form dihydrotestosterone (DHT), is the first-line hormone investigation in hyperandrogenic states and infertility in premenopausal women. Polycystic ovary syndrome (PCOS), the most common cause of hyperandrogenism and infertility in young women, is often associated with mild elevations of total testosterone. Whereas very high levels of total testosterone (>2-3 SD of normal reference), are most often associated with hyperandrogenic signs, menstrual irregularity, rapid onset of virilization, and demand a prompt investigation.
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