Compared with the general population, women who have inherited a germline mutation in the BRCA1 gene have a greatly increased risk of developing breast cancer. However, there is also substantial interindividual variability in the occurrence of breast cancer among BRCA1 mutation carriers. We hypothesize that other genes, particularly those involved in endocrine signaling, may modify the BRCA1-associated age-specific breast cancer risk. We studied the effect of the CAG repeat-length polymorphism found in exon 1 of the androgen-receptor (AR) gene (AR-CAG). AR alleles containing longer CAG repeat lengths are associated with a decreased ability to activate androgen-responsive genes. Using a sample of women who inherited germline BRCA1 mutations, we compared AR-CAG repeat length in 165 women with and 139 women without breast cancer. We found that women were at significantly increased risk of breast cancer if they carried at least one AR allele with >/=28 CAG repeats. Women who carried an AR-CAG allele of >/=28, >/=29, or >/=30 repeats were given a diagnosis 0.8, 1.8, or 6.3 years earlier than women who did not carry at least one such allele. All 11 women in our sample who carried at least one AR-CAG allele with >/=29 repeats had breast cancer. Our results support the hypothesis that age at breast cancer diagnosis is earlier among BRCA1 mutation carriers who carry very long AR-CAG repeats. These results suggest that pathways involving androgen signaling may affect the risk of BRCA1-associated breast cancer.
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http://dx.doi.org/10.1086/302366 | DOI Listing |
East Mediterr Health J
December 2024
Department of Radiology, King Abdulaziz University, Jeddah, Saudi Arabia.
Pharm Dev Technol
January 2025
Department of Pharmacy, School of Chemistry and Chemical Engineering, Liaoning Normal University, Dalian 116029, China.
In this paper, the pH-sensitive targeting functional material NGR-poly(2-ethyl-2-oxazoline)-cholesteryl methyl carbonate (NGR-PEtOz-CHMC, NPC) modified quercetin (QUE) liposomes (NPC-QUE-L) was constructed. The structure of NPC was confirmed by infrared spectroscopy (IR) and nuclear magnetic resonance hydrogen spectrum (H-NMR). Pharmacokinetic results showed that the accumulation of QUE in plasma of the NPC-QUE-L group was 1.
View Article and Find Full Text PDFJ Med Econ
January 2025
UNESCO-TWAS, The World Academy of Sciences, Trieste, Italy.
Aim: Dynamic cancer control is a current health system priority, yet methods for achieving it are lacking. This study aims to review the application of system dynamics modeling (SDM) on cancer control and evaluate the research quality.
Methods: Articles were searched in PubMed, Web of Science, and Scopus from the inception of the study to November 15th, 2023.
Int J Surg
January 2025
Computer Science and Technology, Harbin Institute of Technology (Shenzhen), Shenzhen, China.
Detection of biomarkers of breast cancer incurs additional costs and tissue burden. We propose a deep learning-based algorithm (BBMIL) to predict classical biomarkers, immunotherapy-associated gene signatures, and prognosis-associated subtypes directly from hematoxylin and eosin stained histopathology images. BBMIL showed the best performance among comparative algorithms on the prediction of classical biomarkers, immunotherapy related gene signatures, and subtypes.
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