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一个前列腺癌多发家族的基因分析

Genetic Analysis of a Family with Multiple Incidences of Prostate Cancer.

作者信息

Feng Ninghan, Liu Fengping, Xu Xinyu, Wang Yang, Sheng Qingsong, Zhu Kuichun

机构信息

Department of Urology, Affiliated Wuxi No. 2 Hospital, Nanjing Medical University, Wuxi, China.

Wuxi School of Medicine, Jiangnan University, Wuxi, China.

出版信息

Case Rep Oncol. 2022 Feb 7;15(1):86-90. doi: 10.1159/000521122. eCollection 2022 Jan-Apr.

Abstract

A family with multiple members diagnosed with prostate cancer was identified, and genetic variants were analyzed. Three brothers were diagnosed with prostate cancer. Germline variants in , , , and were found through next-generation DNA sequencing using a hereditary cancer panel. The G275D variant was present in patients, but absent in the healthy member. An variant was found in 1 patient. Several mutations were predicted to be deleterious by a set of computation programs. Multiple gene mutations might contribute to the overall predisposition to prostate cancer in the family. Even in cases with potentially deleterious variants in or , there could be diverse clinical manifestations.

摘要

一个有多名成员被诊断患有前列腺癌的家庭被识别出来,并对基因变异进行了分析。三兄弟被诊断患有前列腺癌。通过使用遗传性癌症检测板进行下一代DNA测序,在 、 、 和 中发现了种系变异。 G275D变异存在于患者中,但在健康成员中不存在。在1名患者中发现了一个 变异。一组计算程序预测有几个突变是有害的。多个基因突变可能导致该家族患前列腺癌的总体易感性。即使在 或 存在潜在有害变异的情况下,也可能有多种临床表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a11b/8921962/cb25103a7697/cro-0015-0086-g01.jpg

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