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Erschienen in: Journal of Genetic Counseling 1/2011

01.02.2011 | Professional Issues

Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review

verfasst von: Scott M. Weissman, Cecelia Bellcross, Christina Chimera Bittner, Mary E. Freivogel, Joy Larsen Haidle, Pardeep Kaurah, Anna Leininger, Selvi Palaniappan, Kelle Steenblock, Thuy M. Vu, Molly S. Daniels

Erschienen in: Journal of Genetic Counseling | Ausgabe 1/2011

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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.
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Zurück zum Zitat Ollila, S., Fitzpatrick, R., Sarantaus, L., Kariola, R., Ambus, I., Velsher, L., et al. (2006). The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. International Journal of Oncology, 28(1), 149–153.PubMed Ollila, S., Fitzpatrick, R., Sarantaus, L., Kariola, R., Ambus, I., Velsher, L., et al. (2006). The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. International Journal of Oncology, 28(1), 149–153.PubMed
Zurück zum Zitat Orta, L., Klimstra, D. S., Qin, J., Mecca, P., Tang, L. H., Busam, K. J., et al. (2009). Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient’s age or other clinical characteristics. The American Journal of Surgical Pathology, 33(6), 934–944.PubMed Orta, L., Klimstra, D. S., Qin, J., Mecca, P., Tang, L. H., Busam, K. J., et al. (2009). Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient’s age or other clinical characteristics. The American Journal of Surgical Pathology, 33(6), 934–944.PubMed
Zurück zum Zitat Pal, T., Permuth-Way, J., Kumar, A., & Sellers, T. A. (2008). Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clinical Cancer Research, 14(21), 6847–6854.PubMed Pal, T., Permuth-Way, J., Kumar, A., & Sellers, T. A. (2008). Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clinical Cancer Research, 14(21), 6847–6854.PubMed
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Metadaten
Titel
Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review
verfasst von
Scott M. Weissman
Cecelia Bellcross
Christina Chimera Bittner
Mary E. Freivogel
Joy Larsen Haidle
Pardeep Kaurah
Anna Leininger
Selvi Palaniappan
Kelle Steenblock
Thuy M. Vu
Molly S. Daniels
Publikationsdatum
01.02.2011
Verlag
Springer US
Erschienen in
Journal of Genetic Counseling / Ausgabe 1/2011
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-010-9325-x

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