作者
Zoran Erlic, Lisa Rybicki, Mariola Peczkowska, Henriette Golcher, Peter H Kann, Michael Brauckhoff, Karsten Müssig, Michaela Muresan, Andreas Schäffler, Nicole Reisch, Matthias Schott, Martin Fassnacht, Giuseppe Opocher, Silke Klose, Christian Fottner, Flavio Forrer, Ursula Plöckinger, Stephan Petersenn, Dimitry Zabolotny, Oleg Kollukch, Svetlana Yaremchuk, Andrzej Januszewicz, Martin K Walz, Charis Eng, Hartmut PH Neumann, European-American Pheochromocytoma Study Group
发表日期
2009/10/15
来源
Clinical Cancer Research
卷号
15
期号
20
页码范围
6378-6385
出版商
American Association for Cancer Research
简介
Purpose: Six pheochromocytoma susceptibility genes causing distinct syndromes have been identified; approximately one of three of all pheochromocytoma patients carry a predisposing germline mutation. When four major genes (VHL, RET, SDHB, SDHD) are analyzed in a clinical laboratory, costs are ∼$3,400 per patient. The aim of the study is to systematically obtain a robust algorithm to identify who should be genetically tested, and to determine the order in which genes should be tested.
Experimental Design: DNA from 989 apparently nonsyndromic patients were scanned for germline mutations in the genes VHL, RET, SDHB, SDHC, and SDHD. Clinical parameters were analyzed as potential predictors for finding mutations by multiple logistic regression, validated by bootstrapping. Cost reduction was calculated between prioritized gene testing compared with that for all genes …
学术搜索中的文章
Z Erlic, L Rybicki, M Peczkowska, H Golcher, PH Kann… - Clinical Cancer Research, 2009