Hereditary Neoplastic Syndromes

Noralane M. Lindor, Carl J. Lindor, Mark H. Greene

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The recent clinical availability of germ-line mutation testing for susceptibility genes related to the hereditary forms of common tumors such as breast, ovary, colorectum, and melanoma has served as a powerful catalyst for diverse research activities. Laboratory research, which has been propelled forward by access to carefully annotated biological samples obtained from cancer-prone families, is now challenged by an increasingly complex regulatory environment related to the ethical use of such specimens. Practitioners are being confronted by a host of new clinical issues, including those related to predictive risk assessment, genetic counseling, and germ-line mutation testing for clinical decision-making; the duty to warn at-risk relatives versus their high-risk patient's right to privacy and confidentiality; and, most importantly, the need for evidence-based, safe, and effective management recommendations for high-risk individuals. This chapter touches briefly upon some of these issues then provides a thumbnail description of selected hereditary cancer syndromes. It considers only some disorders for which a Mendelian mode of inheritance has been established and for which at least one germ-line susceptibility gene has been identified.

Original languageEnglish (US)
Title of host publicationCancer Epidemiology and Prevention
PublisherOxford University Press
ISBN (Electronic)9780199865062
ISBN (Print)0195149610, 9780195149616
DOIs
StatePublished - Sep 1 2009

Keywords

  • Cancer risk
  • Disease inheritance
  • Family history
  • Germ-line mutation
  • Susceptibility genes

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Lindor, N. M., Lindor, C. J., & Greene, M. H. (2009). Hereditary Neoplastic Syndromes. In Cancer Epidemiology and Prevention Oxford University Press. https://doi.org/10.1093/acprof:oso/9780195149616.003.0028