作者
Daniel D Buchanan, Yen Y Tan, Michael D Walsh, Mark Clendenning, Alexander M Metcalf, Kaltin Ferguson, Sven T Arnold, Bryony A Thompson, Felicity A Lose, Michael T Parsons, Rhiannon J Walters, Sally-Ann Pearson, Margaret Cummings, Martin K Oehler, Penelope B Blomfield, Michael A Quinn, Judy A Kirk, Colin J Stewart, Andreas Obermair, Joanne P Young, Penelope M Webb, Amanda B Spurdle
发表日期
2014/1/10
期刊
Journal of Clinical Oncology
卷号
32
期号
2
页码范围
90-100
出版商
American Society of Clinical Oncology
简介
Purpose
Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme for identification of patients with germline mismatch repair (MMR) gene mutations.
Patients and Methods
Endometrial cancers from 702 patients recruited into the Australian National Endometrial Cancer Study (ANECS) were tested for MMR protein expression using immunohistochemistry (IHC) and for MLH1 gene promoter methylation in MLH1-deficient cases. MMR mutation testing was performed on germline DNA of patients with MMR-protein deficient tumors. Prediction of germline mutation status was compared for combinations of tumor characteristics, age at diagnosis, and various clinical criteria (Amsterdam, Bethesda, Society of Gynecologic Oncology, ANECS).
Results
Tumor MMR-protein deficiency was detected in 170 (24%) of 702 …
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DD Buchanan, YY Tan, MD Walsh, M Clendenning… - Journal of Clinical Oncology, 2014