Dataset Information

Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

ABSTRACT:

Purpose

To identify sequence variants of the ataxia telangiectasia mutated (ATM) gene and establish their prevalence rate among American Indian (AI) as compared with non-AI cancer patients.

Materials and methods

DNA was isolated from blood samples collected from 100 AI and 100 non-AI cancer patients undergoing radiation therapy, and a blinded assessment of the ATM sequence was conducted. Quantitative PCR assessment of copy number for each exon was also performed. The main outcome measure was the prevalence of ATM variants in the two patient populations.

Results

No statistically significant differences for total prevalence of ATM variants among AI and non-AI patients were found. Of the 25 variants identified, 5 variants had a prevalence of >2%, of which 4 occurred at a rate of >5% in one or both groups. The prevalence of these four variants could meaningfully be compared between the two groups. The only statistically significant difference among the groups was the c.4138C > T variant which is predicted not to affect protein function, seen in 8% of AI versus 0% of non-AI patients (P = 0.007). No exonic copy number changes were found in these patients.

Conclusion

This study is the first to determine the prevalence of ATM variants in AIs.

SUBMITTER: Petereit DG

PROVIDER: S-EPMC3874556 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Publications

Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Petereit Daniel G DG Hahn L Jennifer LJ Kanekar Shalini S Boylan Amy A Bentzen Søren M SM Ritter Mark M Moser Amy R AR

Frontiers in oncology 20131230

<h4>Purpose</h4>To identify sequence variants of the ataxia telangiectasia mutated (ATM) gene and establish their prevalence rate among American Indian (AI) as compared with non-AI cancer patients.<h4>Materials and methods</h4>DNA was isolated from blood samples collected from 100 AI and 100 non-AI cancer patients undergoing radiation therapy, and a blinded assessment of the ATM sequence was conducted. Quantitative PCR assessment of copy number for each exon was also performed. The main outcome ...[more]

PMID: 24416720

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Project description:BackgroundBreast cancer is the most common cancer in the United States and the second leading cause of death for American Indian women. American Indian women have lower rates of breast cancer screening than other racial groups, and disparities in breast cancer mortality and survival rates persist among them. To address this critical need, a culturally appropriate, accessible, and personalized intervention is necessary to promote breast cancer screening among American Indian women. This study used mobile health principles to develop a mobile web app-based mammogram intervention (wMammogram) for American Indian women in a remote, rural community in the Northern Plains.ObjectiveThis study aimed to assess the feasibility and efficacy of the wMammogram intervention, which was designed to motivate American Indian women to undergo breast cancer screening, as compared with the control group, who received an educational brochure.MethodsUsing community-based participatory research (CBPR) principles and a multipronged recruitment strategy in a randomized controlled trial design, we developed the wMammogram intervention. This study involved 122 American Indian women aged between 40 and 70 years, who were randomly assigned to either the intervention group (n=62) or the control group (n=60). Those in the intervention group received personalized and culturally appropriate messages through a mobile web app, while those in the control group received an educational brochure. We measured outcomes such as mammogram receipt, intention to receive breast cancer screening after the intervention, and participants' satisfaction with and acceptance of the intervention.ResultsA significantly higher proportion of women who received the wMammogram intervention (26/62, 42%; P=.009) completed mammograms by the 6-month follow-up than the control group (12/60, 20%). The wMammogram intervention group, compared with the control group, reported significantly higher ratings on perceived effectiveness of the intervention (t120=-5.22; P<.001), increase in knowledge (t120=-4.75; P<.001), and satisfaction with the intervention (t120=-3.61; P<.001). Moreover, compared with the brochure group, the intervention group expressed greater intention to receive a mammogram in the future when it is due (62/62, 100% vs 51/60, 85%) and were more willing to recommend the intervention they received to their friends (61/62, 98.4% vs 54/60, 90%) with statistically significant differences.ConclusionsThis study shows the feasibility and efficacy of the wMammogram intervention to promote breast cancer screening for American Indian women in a remote, rural community-based setting. Findings suggest that, with advancements in technology and the ubiquity of mobile devices, mobile web apps could serve as a valuable health intervention tool that builds upon low-cost technology and enhances accessibility and sustainability of preventive care to help reduce breast health disparities experienced in hard-to-reach American Indian populations.Trial registrationClinicalTrials.gov NCT05530603; https://clinicaltrials.gov/ct2/show/NCT05530603.

Dataset Information

Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Purpose

Materials and methods

Results

Conclusion

Publications

Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Similar Datasets

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