scholarly journals Bi-allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer

2017 ◽  
Vol 242 (2) ◽  
pp. 165-177 ◽  
Author(s):  
Robert W Mutter ◽  
Nadeem Riaz ◽  
Charlotte KY Ng ◽  
Rob Delsite ◽  
Salvatore Piscuoglio ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Homologous Recombination ◽  
Dna Repair Genes ◽  
Repair Genes

Truncating variants in DNA-repair genes and their effect on AAO of hereditary breast cancer

2018 ◽  
Author(s):  
I Sepahi ◽  
U Faust ◽  
M Sturm ◽  
K Bosse ◽  
M Kehrer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Hereditary Breast Cancer ◽  
Dna Repair Genes ◽  
Repair Genes

Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. Radiologic technologists

2008 ◽  
Vol 122 (1) ◽  
pp. 177-182 ◽  
Author(s):  
Parveen Bhatti ◽  
Jeffery P. Struewing ◽  
Bruce H. Alexander ◽  
Michael Hauptmann ◽  
Laura Bowen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Ionizing Radiation ◽  
Radiation Exposure ◽  
Dna Repair Genes ◽  
Radiologic Technologists ◽  
Ionizing Radiation Exposure ◽  
Repair Genes

Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 5568-5568
Author(s):  
Elisa Marie Ledet ◽  
Ellen Jaeger ◽  
Whitley Hatton ◽  
Marcus W. Moses ◽  
Alexandra Sokolova ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Prostate Cancer ◽  
Dna Repair ◽  
African American ◽  
Family History ◽  
Metastatic Prostate Cancer ◽  
Germline Mutations ◽  
Dna Repair Genes ◽  
Brca Mutations ◽  
Repair Genes

5568 Background: The relevance of germline mutations in metastatic prostate cancer is well established; however, comparison of germline genetics in African American (AA) versus Caucasian (CA) men with metastatic prostate cancer (PCa) is limited. Methods: Germline data from self-identified AA and CA metastatic PCa patients (pts) were collected from 5 academic cancer centers. Various commercial cancer-specific germline testing panels were used to evaluate 12-86 genes. Pathogenic (P) or likely pathogenic (LP) mutations, and variants of unknown significance (VUS), were reported according to ACMG guidelines. Self-reported family history (FH) was annotated for 99% of pts. Statistical analyses included Chi-squared and Fischer’s exact tests. Results: A total of 821 metastatic PCa pts were assessed: 152 AAs and 669 CAs. For P/LP alterations, AAs had a frequency of 11.2% (17/152) as compared to a frequency of 14.6% (98/669) in CAs (p = 0.302). AA pts were more likely to have a VUS than CA pts, 61% vs 43% respectively (OR = 2.09, 95%CI [1.45, 2.99], p < 0.001). BRCA mutations were similar between races, but AA were more likely to have a BRCA1 P/LP alteration (OR = 6.00, 95% CI [1.33, 27.09], p = 0.025). AA pts were less likely to have a P/LP alteration in a non-BRCA gene (OR = 0.34, 95% CI [0.15, 0.80], p = 0.013). Among DNA repair genes, there were no significant difference between AA and CA pts (p = 0.574); however, there was a trend toward AA pts having fewer P/LP alteration in a non-BRCA DNA repair genes (OR = 0.26, 95% CI [0.06, 1.08], p = 0.071). In pts with >1 first degree relative (FDR) with ovarian cancer, P/LP germline alterations were more likely in CAs (OR = 2.33, 95% CI [1.05, 5.17], p = 0.043); but there were no significant differences in AAs (p = 0.098). Those with >2 FDRs with PCa were more likely to have a P/LP change in CAs (OR = 2.32, 95% CI [1.04, 5.15], p = 0.043), but there were no difference in AAs (p = 0.700). In pts with ≥2 FDRs with breast cancer, P/LP germline alterations were more likely in both AAs (OR = 9.36, 95% CI [1.72, 50.84], p = 0.019) and CAs (OR = 3.92, 95% CI [1.79, 8.59], p = 0.001). Conclusions: We did not observe a difference in the overall frequency of germline P/LP alterations between AA and CA men with metastatic PCa but VUSs were more common in AA men. These AA men have an overall frequency of BRCA mutations similar to CA men; however, BRCA1 mutations were more prevalent in these AAs. Non-BRCA P/LP mutations are significantly less frequent in AA pts. A positive family history of >2 FDRs with breast cancer was associated with P/LP alterations in both AA and CA pts.

scholarly journals Polymorphisms in DNA repair genes, recreational physical activity and breast cancer risk

2013 ◽  
Vol 134 (3) ◽  
pp. 654-663 ◽  
Author(s):  
Lauren E. McCullough ◽  
Regina M. Santella ◽  
Rebecca J. Cleveland ◽  
Robert C. Millikan ◽  
Andrew F. Olshan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Physical Activity ◽  
Dna Repair ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Dna Repair Genes ◽  
Recreational Physical Activity ◽  
Repair Genes

scholarly journals The role of microRNA-binding site polymorphisms in DNA repair genes as risk factors for bladder cancer and breast cancer and their impact on radiotherapy outcomes

2011 ◽  
Vol 33 (3) ◽  
pp. 581-586 ◽  
Author(s):  
Mark T.W. Teo ◽  
Debora Landi ◽  
Claire F. Taylor ◽  
Faye Elliott ◽  
Laurence Vaslin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Bladder Cancer ◽  
Dna Repair ◽  
Binding Site ◽  
Dna Repair Genes ◽  
Repair Genes
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