Genetic/familial high-risk assessment: Breast and ovarian - Clinical practice guidelines in oncology™

Mary B. Daly, Jennifer E. Axilbund, Saundra Buys, Beth Crawford, Carolyn D. Farrell, Susan Friedman, Judy E. Garber, Salil Goorha, Stephen B. Gruber, Heather Hampel, Virginia Kaklamani, Wendy Kohlmann, Allison Kurian, Jennifer Litton, P. Kelly Marcom, Robert Nussbaum, Kenneth Offit, Tuya Pal, Boris Pasche, Robert PilarskiGwen Reiser, Kristen Mahoney Shannon, Jeffrey R. Smith, Elizabeth Swisher, Jeffrey N. Weitzel

Research output: Contribution to journalReview articlepeer-review

197 Scopus citations


All cancers develop as a result of mutations in certain genes, such as those involved in the regulation of cell growth and/or DNA repair, but not all mutations are inherited. However, family studies have long documented an increased risk for several forms of cancer among first and second-degree relatives . Hereditary cancers are often characterized by mutations associated with a high probability of cancer development, vertical transmission through either mother or father, and an association with other types of tumors. They often have an early age of onset and exhibit an autosomal dominant inheritance pattern. Familial cancers share only some features of hereditary cancers. Although other cancers are associated with these hereditary syndromes, these guidelines mainly focus on management of breast and ovarian cancer risk in these individuals.

Original languageEnglish (US)
Pages (from-to)562-594
Number of pages33
JournalJNCCN Journal of the National Comprehensive Cancer Network
Issue number5
StatePublished - May 2010
Externally publishedYes


  • BRCA1
  • BRCA2
  • Breast/ovarian cancer syndrome
  • Cowden syndrome
  • Gene
  • Genetic counseling
  • Genetic risk assessment
  • Hereditary
  • Li-Fraumeni syndrome
  • NCCN Clinical Practice Guidelines

ASJC Scopus subject areas

  • Oncology


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