肿瘤组织中APC*E1317Q突变的详细分子遗传学表明它可能没有病理意义。

Diagnostic Molecular Pathology Pub Date : 2013-09-01 DOI:10.1097/PDM.0b013e3182830889

Peter Zauber, Stephen P Marotta, Marlene Sabbath-Solitare

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引用次数: 2

摘要

APC*E1317Q是APC基因的一种低外显子变异，被认为与结直肠腺瘤和癌的发展有风险。文献中对APC*E1317Q在肿瘤组织中的分子细节描述甚少。我们提供了3例APC*E1317Q患者的分子遗传学信息。对于1名患者，我们显示了与特定APC等位基因的联系。我们进一步发现，APC*E1317Q突变携带者的肿瘤中APC基因杂合性的缺失可能涉及突变的等位基因，而不仅仅是野生型等位基因，这表明APC*E1317Q错义突变在结直肠癌的发展中可能没有病理意义。

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Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant.

APC*E1317Q is a low-penetrance variant of the APC gene suggested as a risk for the development of colorectal adenomas and carcinomas. There is very little in the literature describing the molecular details of APC*E1317Q in tumor tissue. We provide information about the molecular genetics of 3 patients with APC*E1317Q. For 1 patient, we show linkage to a specific APC allele. We further show that loss of heterozygosity of the APC gene in tumors from carriers of the APC*E1317Q mutation may involve the mutated allele, not just the wild-type allele, suggesting the APC*E1317Q missense mutation may not be pathologically significant in the development of colorectal tumors.

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来源期刊

Diagnostic Molecular Pathology 医学-病理学

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Diagnostic Molecular Pathology focuses on providing clinical and academic pathologists with coverage of the latest molecular technologies, timely reviews of established techniques, and papers on the applications of these methods to all aspects of surgical pathology and laboratory medicine. It publishes original, peer-reviewed contributions on molecular probes for diagnosis, such as tumor suppressor genes, oncogenes, the polymerase chain reaction (PCR), and in situ hybridization. Articles demonstrate how these highly sensitive techniques can be applied for more accurate diagnosis.