Publications by authors named "G Zirpoli"
Genome-wide association studies have identified approximately 200 genetic risk loci for breast cancer, but the causal variants and target genes are mostly unknown. We sought to fine-map all known breast cancer risk loci using genome-wide association study data from 172,737 female breast cancer cases and 242,009 controls of African, Asian and European ancestry. We identified 332 independent association signals for breast cancer risk, including 131 signals not reported previously, and for 50 of them, we narrowed the credible causal variants down to a single variant.
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- Pathogenic variants (PVs) in certain genes like BRCA1 and BRCA2 increase breast cancer risk, but it's unclear how risk varies based on the type and location of these variants.
- This study analyzed breast cancer risks associated with different PV types and locations using data from 12 US studies and clinical cohorts involving over 64,000 women.
- Results showed that women with specific exon PTVs had higher breast cancer risks, lower rates of ER-negative breast cancer, and were diagnosed at younger ages compared to those with other variants, with these patterns observed across multiple cohorts.
Article Synopsis
- Clinical genetic testing helps find cancer risks by identifying gene changes, but some of these changes are confusing because we don't know what they mean (called VUS).
- Researchers studied a huge number of breast cancer patients and healthy people to understand these confusing gene changes better.
- They found that their method of analyzing data closely matches what other experts say about which gene changes are harmless or harmful, giving more information about 785 unclear changes.
Pre-treatment amino acids and risk of paclitaxel-induced peripheral neuropathy in SWOG S0221.
Cancer Chemother Pharmacol
August 2024
Article Synopsis
- - The study examined the relationship between pre-treatment blood levels of amino acids and the occurrence and severity of chemotherapy-induced peripheral neuropathy (CIPN) in breast cancer patients treated with paclitaxel.
- - While histidine levels were found not to be linked to the incidence of CIPN, some associations were noted between higher concentrations of glutamate, phenylalanine, tyrosine, and valine with increased CIPN severity, although these were not significant after further adjustments.
- - Overall, the findings suggest that amino acid concentrations are not strong predictors of CIPN severity, indicating a need for future research to explore other potential biomarkers.
Perceived Experiences of racism in Relation to Genome-Wide DNA Methylation and Epigenetic Aging in the Black Women's Health Study.
J Racial Ethn Health Disparities
February 2024
Background: African American women have a disproportionate burden of disease compared to US non-Hispanic white women. Exposure to psychosocial stressors may contribute to these health disparities. Racial discrimination, a major stressor for African American women, could affect health through epigenetic mechanisms.
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