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An apc - mutation, the with familial in the case of cancer of the jews ashkenazi - is accompanied by

机译:apc-突变,在患有犹太人ashkenazi癌症的情况下具有家族性-伴随有

摘要

During routine screening of a patient with a family history of colorectal cancer for truncating APC mutations, a novel missence mutation was identified. Upon further evaluation, it was found that 6 % of Ashkenazi Jews carry this mutation, and that it was present in ∩20 % of Ashkenazis with a family history of CRC. Probes, methods, and kits for identifying individuals affected with this missense mutation are provided.
机译:在常规筛查具有大肠癌家族史的患者截短的APC突变时,发现了一种新型的遗漏突变。经过进一步评估,发现有6%的Ashkenazi犹太人携带此突变,并且在有CRC家族史的Ashkenazis中约有20%的人存在。提供了用于鉴定受此错义突变影响的个体的探针,方法和试剂盒。

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