Genetic Predisposition Syndromes and Their Management

David M. Euhus, Linda Robinson

Research output: Contribution to journalReview articlepeer-review

Abstract

Apart from BRCA1, BRCA2, and TP53, more than a dozen breast cancer susceptibility genes have been identified. Recognizing affected individuals depends on evaluation of cancer family history and recognition of certain phenotypic markers on physical examination. Genetic testing provides a powerful tool for individualized risk stratification. Mutation carriers have several options for managing risk, including lifestyle alterations, enhanced surveillance, chemoprevention, and prophylactic surgery. Genetic counseling and testing should be considered in the initial evaluation of patients with newly diagnosed breast cancer because this information contributes to surgical decisions, radiation therapy options, and systemic therapy choices.

Original languageEnglish (US)
Pages (from-to)341-362
Number of pages22
JournalSurgical Clinics of North America
Volume93
Issue number2
DOIs
StatePublished - Apr 2013
Externally publishedYes

Keywords

  • Breast neoplasms
  • Cancer predisposition syndromes
  • Gene mutation
  • Genetic counseling
  • Risk assessment
  • Risk management

ASJC Scopus subject areas

  • Surgery

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