Genetic testing for cancer predisposition

Annu Rev Med. 2001;52:371-400. doi: 10.1146/


Clinical cancer genetics is becoming an integral part of the care of cancer patients. This review describes the clinical aspects, genetics, and clinical genetic management of most of the major hereditary cancer susceptibility syndromes. Multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and familial adenomatous polyposis are examples of syndromes for which genetic testing to identify at-risk family members is considered the standard of care. Genetic testing for these syndromes is sensitive and affordable, and it will change medical management. Cancer genetic counseling and testing is probably beneficial in other syndromes, such as the hereditary breast cancer syndromes, hereditary nonpolyposis colorectal cancer syndrome, Peutz-Jeghers syndrome, and juvenile polyposis. There are also hereditary cancer syndromes for which testing is not yet available and/or is unlikely to change medical management, including Li-Fraumeni syndrome and hereditary malignant melanoma. Thorough medical care requires the identification of families likely to have a hereditary cancer susceptibility syndrome for referral to cancer genetics professionals.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics
  • Causality
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / etiology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / economics
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics
  • Humans
  • Incidence
  • Li-Fraumeni Syndrome / diagnosis
  • Li-Fraumeni Syndrome / genetics
  • Melanoma / diagnosis
  • Melanoma / genetics
  • Multiple Endocrine Neoplasia / diagnosis
  • Multiple Endocrine Neoplasia / genetics
  • Neoplasms / diagnosis*
  • Neoplasms / epidemiology
  • Neoplasms / genetics*
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / epidemiology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics
  • Pedigree
  • Peutz-Jeghers Syndrome / diagnosis
  • Peutz-Jeghers Syndrome / genetics
  • Sensitivity and Specificity
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics