Lessons from the skin--cutaneous features of familial cancer.
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.
Winship
Ingrid M
IM
Department of Medicine, University of Melbourne, Royal Melbourne Hospital, VIC, Australia. Ingrid.Winship@mh.org.au
Dudding
Tracy E
TE
D011125:Adenomatous Polyposis Coli / Q000473:pathology; D001478:Basal Cell Nevus Syndrome / Q000473:pathology; D002292:Carcinoma, Renal Cell / Q000473:pathology; D003110:Colonic Neoplasms / Q000235:genetics / Q000473:pathology*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000473:pathology; D018450:Disease Progression; D004701:Endocrine Gland Neoplasms / Q000235:genetics / Q000473:pathology*; D015972:Gene Expression Regulation, Neoplastic; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000473:pathology; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D018231:Leiomyomatosis / Q000473:pathology; D009377:Multiple Endocrine Neoplasia / Q000473:pathology; D018813:Multiple Endocrine Neoplasia Type 2a / Q000473:pathology; D018814:Multiple Endocrine Neoplasia Type 2b / Q000473:pathology; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000473:pathology; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000473:pathology; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000473:pathology