Olaparib use in patients with metastatic breast cancer harboring somatic BRCA1/2 mutations or mutations in non-BRCA1/2, DNA damage repair genes

2021 ◽  
Author(s):  
Elaine M Walsh ◽  
Neha Mangini ◽  
John Fetting ◽  
Deborah Armstrong ◽  
Isaac S Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Damage ◽  
Metastatic Breast Cancer ◽  
Dna Damage Repair ◽  
Metastatic Breast ◽  
Damage Repair ◽  
Repair Genes

scholarly journals Changes in DNA Damage Repair Gene Expression and Cell Cycle Gene Expression Do Not Explain Radioresistance in Tamoxifen-Resistant Breast Cancer

2020 ◽  
Vol 28 (1) ◽  
pp. 33-40 ◽  
Author(s):  
Annemarie E. M. Post ◽  
Johan Bussink ◽  
Fred C. G. J. Sweep ◽  
Paul N. Span
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Cell Cycle ◽  
Dna Damage ◽  
Dna Damage Repair ◽  
Cross Resistance ◽  
Damage Repair ◽  
Breast Cancer Cohort ◽  
Tamoxifen Resistant ◽  
Repair Genes

Tamoxifen-induced radioresistance, reported in vitro, might pose a problem for patients who receive neoadjuvant tamoxifen treatment and subsequently receive radiotherapy after surgery. Previous studies suggested that DNA damage repair or cell cycle genes are involved, and could therefore be targeted to preclude the occurrence of cross-resistance. We aimed to characterize the observed cross-resistance by investigating gene expression of DNA damage repair genes and cell cycle genes in estrogen receptor-positive MCF-7 breast cancer cells that were cultured to tamoxifen resistance. RNA sequencing was performed, and expression of genes characteristic for several DNA damage repair pathways was investigated, as well as expression of genes involved in different phases of the cell cycle. The association of differentially expressed genes with outcome after radiotherapy was assessed in silico in a large breast cancer cohort. None of the DNA damage repair pathways showed differential gene expression in tamoxifen-resistant cells compared to wild-type cells. Two DNA damage repair genes were more than two times upregulated (NEIL1 and EME2), and three DNA damage repair genes were more than two times downregulated (PCNA, BRIP1, and BARD1). However, these were not associated with outcome after radiotherapy in the TCGA breast cancer cohort. Genes involved in G1, G1/S, G2, and G2/M phases were lower expressed in tamoxifen-resistant cells compared to wild-type cells. Individual genes that were more than two times upregulated (MAPK13) or downregulated (E2F2, CKS2, GINS2, PCNA, MCM5, and EIF5A2) were not associated with response to radiotherapy in the patient cohort investigated. We assessed the expression of DNA damage repair genes and cell cycle genes in tamoxifen-resistant breast cancer cells. Though several genes in both pathways were differentially expressed, these could not explain the cross-resistance for irradiation in these cells, since no association to response to radiotherapy in the TCGA breast cancer cohort was found.

scholarly journals P57.04 Mutations of DNA Damage Repair Genes in Lung Adenocarcinoma and Their Association with Actionable Alterations

2021 ◽  
Vol 16 (3) ◽  
pp. S534-S535
Author(s):  
Z. Yu ◽  
S. Dang ◽  
J. Zhang ◽  
J. Duan ◽  
S. Chen ◽  
...  
Keyword(s):  
Dna Damage ◽  
Lung Adenocarcinoma ◽  
Dna Damage Repair ◽  
Damage Repair ◽  
Repair Genes

Abstract 2521: Race specific differences in DNA damage repair dysregulation in breast cancer and association with outcome

2021 ◽  
Author(s):  
Aloran Mazumder ◽  
Athena Jimenez ◽  
Rachel Ellsworth ◽  
Stephen Freedland ◽  
Sophia George ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Damage ◽  
Dna Damage Repair ◽  
Damage Repair

scholarly journals DISTRIBUTION OF DNA DAMAGE REPAIR GENE POLYMORPHISM hOGG1, XRCC1 and p53 AMONG SICKLE CELL DISEASE PATIENTS IN INDIA

2015 ◽  
Vol 7 ◽  
pp. e2015046 ◽  
Author(s):  
Sudhansu Sekhar Nishank
Keyword(s):  
Oxidative Stress ◽  
Dna Damage ◽  
Sickle Cell Disease ◽  
Gene Polymorphisms ◽  
Clinical Effect ◽  
Dna Damage Repair ◽  
Cell Disease ◽  
Repair Gene ◽  
Damage Repair ◽  
Repair Genes

Background– Defect in DNA damage repair genes due to oxidative stress predispose the humans to malignancies. There are many cases of association of malignancies with sickle cell disease patients (SCD) throughout the world, the molecular cause of which has never been investigated. DNA damage repair genes such as  hOGG1, XRCC1 and p53 play significant role in repair of DNA damage during oxidative stress but the distribution and clinical effect of these genes are not known till date in SCD patients who are associated with oxidative stress related clinical complications.        Objective – The aim of the study was to characterize the distribution and clinical effect of DNA damage gene polymorphisms p53 (codon 72 Arg> Pro), hOGG1 (codon 326 Ser>Cyst) and XRCC1 (codons 194 Arg>Trp, codon 280 Arg> His, codon 399 Arg> Gln) among SCD patients of  central India. Methods- A case control study of  250 SCD patients and 250 normal individuals were investigated by PCR-RFLP techniques.     Result- The prevalence of mutant alleles of hOGG1 gene, XRCC1 codon 280 Arg>His  were found to be significantly high among SCD patients as compared to controls. However, SCD patients did not show clinical association with any of these DNA repair gene polymorphisms.  Conclusion- This indicates that hOGG1, p53  and XRCC1 gene polymorphisms  may not have any clinical impact among SCD patients in India.

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