P139: Multi-gene panel testing within the context of limited family structure in single cases of breast cancer

Methods: Comparison of HCC and matched normal tissue gene expression was performed with the UALCAN and GEPIA online graphical user interfaces.Correlation between SLCO gene expression and patient survival was evaluated with OncoLnc.SLCO genetic alterations in HCC were also explored using cBioPortal.Results: Expression of SLC22A1 is significantly down-regulated in the clinic-pathological characteristics (cancer stages, tumor grade and nodal metastasis status) examined in HCC patients compared to normal counterparts.Clinically, low expression of SLC22A1 is correlated with shorter overall survival in HCC patients, with a log-rank p-value of 0.00007.Top of Form Analysis of the TCGA Liver Hepatocellular Carcinoma dataset (TCGA's Pan-Cancer Atlas) revealed a low amplification and deep deletion frequency in HCC (0.54% vs 1.61%).Conclusion: SLC22A1 are highly expressed in the liver and play key roles in many liver diseases.In HCC patients, downregulation of SLC22A1 expression has been observed.SLC22A1 expression levels may also serve as prognostic predictive markers in HCC patients.

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Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102983
Primary Topic
BRCA gene mutations in cancer
Type
article
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article

P139: Multi-gene panel testing within the context of limited family structure in single cases of breast cancer

Maylie Gonzales, Emily Chien, Rachel Collier, Sourat Darabi et al.
1 links
Genetics in Medicine Open
BRCA gene mutations in cancer
article

P139: Multi-gene panel testing within the context of limited family structure in single cases of breast cancer

Maylie Gonzales, Emily Chien, Rachel Collier, Sourat Darabi, Michael J. Demeure, Jonathan H. Lin, C. Torres
article en

Abstract

Methods: Comparison of HCC and matched normal tissue gene expression was performed with the UALCAN and GEPIA online graphical user interfaces.Correlation between SLCO gene expression and patient survival was evaluated with OncoLnc.SLCO genetic alterations in HCC were also explored using cBioPortal.Results: Expression of SLC22A1 is significantly down-regulated in the clinic-pathological characteristics (cancer stages, tumor grade and nodal metastasis status) examined in HCC patients compared to normal counterparts.Clinically, low expression of SLC22A1 is correlated with shorter overall survival in HCC patients, with a log-rank p-value of 0.00007.Top of Form Analysis of the TCGA Liver Hepatocellular Carcinoma dataset (TCGA's Pan-Cancer Atlas) revealed a low amplification and deep deletion frequency in HCC (0.54% vs 1.61%).Conclusion: SLC22A1 are highly expressed in the liver and play key roles in many liver diseases.In HCC patients, downregulation of SLC22A1 expression has been observed.SLC22A1 expression levels may also serve as prognostic predictive markers in HCC patients.

Genetics in Medicine OpenVol. 3
Hoag Memorial Hospital Presbyterian (US)
Good health and well-being
Openalex Percentile: Top 94%
BRCA gene mutations in cancer
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P139: Multi-gene panel testing within the context of limited family structure in single cases of breast cancer — Maylie Gonzales, Emily Chien, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS