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BIOMARKERS FOR FANCONI ANEMIA

机译:范可尼贫血的生物标记

摘要

A method for adjusting therapy given to a patient having cancer by diagnosing Fanconi Anemia (FA), and/or predicting bone marrow failure (BMF) or predicting cancer susceptibility in the patient by determining a level of at least one biomarker. In one embodiment the biomarker is at least one of 3-hydroxyisovalerate, acetate, isopropanol, glycerol-3-phosphocholine, choline, histamine, glutamate, alanine, glycine, isoleucine, lysine, phenylalanine, threonine, tyrosine, vitamin A, vitamin D, cholesterol, ketone bodies, acetone, and/or acetoacetate/acetoacetaldehyde. The biomarker level is assessed in a biological sample obtained from the patient, and an altered level of the biomarker, increased or decreased, compared to a family member not having FA or to a healthy control subject, is indicative of FA and/or predictive of BMF and cancer susceptibility. The information is used to adjust the patient's therapy based on the diagnosis of FA and/or prediction of BMF and cancer susceptibility in the patient.
机译:一种通过诊断范可尼贫血(FA)和/或预测骨髓衰竭(BMF)或预测患者癌症易感性来调整给予癌症患者治疗的方法,方法是确定至少一种生物标记物的水平。在一个实施方案中,生物标志物是3-羟基异戊酸酯,乙酸酯,异丙醇,甘油-3-磷酸胆碱,胆碱,组胺,谷氨酸,丙氨酸,甘氨酸,异亮氨酸,赖氨酸,苯丙氨酸,苏氨酸,酪氨酸,维生素A,维生素D中的至少一种,胆固醇,酮体,丙酮和/或乙酰乙酸酯/乙酰乙醛。在从患者获得的生物样品中评估生物标志物的水平,与没有FA的家庭成员或健康对照对象相比,增加或降低的生物标志物水平变化指示FA和/或预测BMF和癌症易感性。该信息用于根据FA的诊断和/或BMF的预测以及患者的癌症易感性来调整患者的治疗方法。

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