公开(公告)号：US20140010802A1

公开(公告)日：2014-01-09

申请号：US13969986

申请日：2013-08-19

Applicant: University of Hawaii, Office of Technology Transfer and Economic Development ,  Institute for Cancer Research d/b/a The Research Institute of Fox Chase Cancer Center ("Fox Chase C

Inventor： Joseph R. Testa ,  Michele Carbone ,  Mitchell Cheung ,  Jianming Pei

IPC: C12Q1/68

CPC classification number: C12Q1/6886 ,  C12Q2600/156

Abstract: Systems, methods, and computer readable media for diagnosing or characterizing a genetic predisposition to develop cancer, including cancers of the BAP1 cancer syndrome, are provided. Nucleic acids comprising a germline nucleic acid sequence encoding the BRCA1 associated protein 1 (BAP1) are sequenced or probed to determine if the nucleic acid sequence includes alterations that predispose a subject to develop cancer.

Abstract translation: 提供用于诊断或表征发展癌症的遗传易感性的系统，方法和计算机可读介质，包括BAP1癌症综合征的癌症。 包含编码BRCA1相关蛋白1（BAP1）的种系核酸序列的核酸被测序或探测，以确定核酸序列是否包括倾向于使受试者发展为癌症的改变。