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Genetic Testing by Cancer Site: Uterus

Daniels, Molly S. MS, CGC

doi: 10.1097/PPO.0b013e3182610cc2
Genetic Testing by Cancer Site

Abstract: This review article discusses hereditary cancer predisposition syndromes with uterine manifestations. Lynch syndrome accounts for 2% to 3% of endometrial cancers. The identification of endometrial cancer patients at risk for Lynch syndrome is discussed, as are the characteristics of Lynch syndrome–associated endometrial cancer and the screening and prevention options for women at risk for Lynch syndrome–associated endometrial cancer. Endometrial cancer associated with PTEN hamartoma tumor syndrome (also known as Cowden syndrome) is also discussed. HLRCC (hereditary leiomyomatosis and renal cell carcinoma), which has an associated high risk of symptomatic uterine leiomyomas, is reviewed.

From the Clinical Cancer Genetics Program, Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX.

The author has disclosed that she has no significant relationships with, or financial interest in, any commercial companies pertaining to this article.

Reprints: Molly S. Daniels, MS, CGC, Clinical Cancer Genetics Program, Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, PO Box 301439, Unit 1362, Houston, TX 77230. E-mail: msdaniel@mdanderson.org.

© 2012 Lippincott Williams & Wilkins, Inc.