sábado, 23 de octubre de 2010

SpringerLink - Journal of Genetic Counseling, Online First™



J Genet Couns. 2010 Oct 8. [Epub ahead of print]
Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome-A Review.

Weissman SM, Bellcross C, Bittner CC, Freivogel ME, Haidle JL, Kaurah P, Leininger A, Palaniappan S, Steenblock K, Vu TM, Daniels MS.

Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.


Abstract

Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.

PMID: 20931355 [PubMed - as supplied by publisher]
SpringerLink - Journal of Genetic Counseling, Online First™

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