Publications by authors named "E Cavaciuti"
The Ataxia-Telangiectasia Mutated gene is implicated in DNA double-strand break repair. Controversies in clinical radiosensitivity remain known for monoallelic carriers of the pathogenic variant (PV). An evaluation of the single-nucleotide polymorphism (SNP) rs1801516 (G-A) showed different results regarding late subcutaneous fibrosis after breast radiation therapy (RT).
View Article and Find Full Text PDFBackground: Diagnostic ionizing radiation is a risk factor for breast cancer (BC). BC risk increases with increased dose to the chest and decreases with increased age at exposure, with possible effect modification related to familial or genetic predisposition. While chest X-rays increase the BC risk of BRCA1/2 mutation carriers compared to non-carriers, little is known for women with a hereditary predisposition to BC but who tested negative for a BRCA1 or BRCA2 (BRCA1/2) mutation.
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- The first International Workshop on the ATM gene and cancer took place on December 4-5, 2019, in Paris, focusing on the gene's role in various cancers due to the presence of germline ATM pathogenic variants.
- Experts from different fields discussed the lack of consensus on management guidelines for these variant carriers because of insufficient age-, sex-, and site-specific risk estimates.
- The meeting emphasized the need for large-scale studies to enhance cancer risk management and therapeutic strategies for ATM variant carriers beyond Ataxia-Telangiectasia.
Article Synopsis
- Researchers linked over 180 SNPs to breast cancer risk through extensive genome studies, particularly affecting women without BRCA1/2 mutations.
- The study analyzed genetic data from 1281 breast cancer cases, their sisters, and a control group to identify significant genes and pathways related to breast cancer risk.
- Although the newly developed polygenic risk scores (PRS) showed better predictive performance than traditional methods, they were still not highly predictive for the general population, emphasizing the importance of family history in risk assessments.
Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. Because of cost-effectiveness, multigene panel testing is often performed even if the clinical utility of testing most of the genes remains questionable. The purpose of our study was to assess the contribution of rare, deleterious-predicted variants in DNA repair genes in familial breast cancer (BC) in a well-characterized and homogeneous population.
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