Genetic Testing to Improve Management of Patients Undergoing Breast Biopsy
试验速览
- 阶段
- 不适用
- 状态
- 暂停
- 发起方
- Mayo Clinic
- 入组人数
- 500
- 试验地点
- 2
- 主要终点
- Deoxyribonucleic acid (DNA) quantity
研究概览
简要总结
This study evaluates genetic testing to improve risk assessment and advance efforts to develop precision management for breast cancer by studying saliva samples for genotyping and evaluate associations with pathologic diagnoses and detailed pathologic and radiologic features.
详细描述
PRIMARY OBJECTIVES:
I. To collect saliva from 500 consenting women undergoing a clinically indicated breast biopsy, perform genotyping, and then assess the associations of polygenic risk score (PRS) (and related single nucleotide polymorphisms [SNPs]) to final diagnosis of ductal carcinoma in situ (DCIS), invasive breast cancer or benign breast disease (BBD); BBD severity; specific BBD lesions; and features of background benign lobules from which these lesions arise.
II. To relate PRS (and related SNPs) to radiologic features, including breast density and sentinel lesions, such as masses, densities, calcifications, and asymmetries.
III. To relate PRS (and related SNPs) to molecular markers in pathologic lesions and background tissues, including associations with breast cancer (BC) molecular subtypes (e.g., luminal, triple-negative (basal) and human epidermal growth factor receptor 2 [HER2] overexpressing) and biomarkers in BBD and lobules.
OUTLINE: This is an observational study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •* Women over the age of 18 years
- •Able to provide informed consent
- •Referred for a radiologically guided breast biopsy
排除标准
- •Women under the age of 18 years
- •Unable to provide informed consent
结局指标
主要结局
Deoxyribonucleic acid (DNA) quantity
时间窗: Up to study completion (approximately 5 years)
Will analyze DNA from saliva sample to assess quantity for a validated polygenic risk score (PRS) for breast cancer.
Number of subjects consented per month
时间窗: Baseline; Up to study completion (approximately 5 years)
Will be assessed by the percentage of eligible patients consented.
Deoxyribonucleic acid (DNA) quality
时间窗: Up to study completion (approximately 5 years)
Will analyze DNA from saliva sample to assess quality for a validated PRS for breast cancer.
Success in estimation of polygenic risk score (PRS)
时间窗: Up to study completion (approximately 5 years)
Medical records will be reviewed and compared with study findings to determine success of PRS estimation.
Ability to perform genotyping using collected sample
时间窗: Up to study completion (approximately 5 years)
Will perform genotyping on collected saliva sample using the Infinium Global Diversity Array test to generate a validated polygenic risk score (PRS) for breast cancer. Test results will be reviewed to assess whether the saliva sample contains enough (quantity) viable (quality) deoxyribonucleic acid (DNA) to provide accurate genotype results.
次要结局
未报告次要终点