Lessons from the skin--cutaneous features of familial cancer

Lancet Oncol. 2008 May;9(5):462-72. doi: 10.1016/S1470-2045(08)70126-8.


As the molecular basis of disease continues to be elucidated, familial cancer syndromes, which consist of a range of neoplastic and non-neoplastic features, are emerging. The usual pathway of referral to a genetics clinic or familial cancer centre is via an oncologist, when high-risk features that suggest a possible hereditary basis for the presenting cancer are recognised. Traditionally, these high-risk features include more than two family members with similar cancers over two or more generations, a young age of onset, and more than one synchronous or metachronous tumour. These features are effective in ascertaining a substantial proportion of families with hereditary breast and ovarian cancer due to a BRCA mutation, or the more common bowel-cancer predisposition syndromes, such as hereditary non-polyposis colon cancer and familial adenomatous polyposis. However, there are a range of familial cancer syndromes that are not easily detected and that can remain undiagnosed when history and examination are not extended to include non-malignant features. The identification of cutaneous signs associated with rare familial-cancer syndromes provides individuals and their families with the opportunity to undertake early surveillance for malignant and non-malignant complications that might in time be shown to improve outcomes.

Publication types

  • Review

MeSH terms

  • Adenomatous Polyposis Coli / pathology
  • Basal Cell Nevus Syndrome / pathology
  • Carcinoma, Renal Cell / pathology
  • Colonic Neoplasms / genetics
  • Colonic Neoplasms / pathology*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Disease Progression
  • Endocrine Gland Neoplasms / genetics
  • Endocrine Gland Neoplasms / pathology*
  • Gene Expression Regulation, Neoplastic
  • Genetic Testing
  • Hamartoma Syndrome, Multiple / pathology
  • Humans
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Leiomyomatosis / pathology
  • Multiple Endocrine Neoplasia / pathology
  • Multiple Endocrine Neoplasia Type 2a / pathology
  • Multiple Endocrine Neoplasia Type 2b / pathology
  • Mutation
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology*
  • Neurofibromatosis 1 / pathology
  • Neurofibromatosis 2 / pathology
  • Pedigree
  • Peutz-Jeghers Syndrome / pathology
  • Skin / pathology*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Tuberous Sclerosis / pathology