ICARE Newsletter Winter 2014

Recent Evidence to Suggest That Individuals with Germline Mutations in the PTEN gene (Which Leads to Cowden Syndrome) May Have Higher Renal Cancer Risks

Cowden Syndrome is an inherited condition that leads to higher risks for breast and thyroid cancer, and possibly other cancers.1 There have been a few recent studies that suggest that this condition also puts individuals at a higher risk for kidney cancer. Specifically, Tan et al2 reported a lifetime risk of 30.6% (95% CI: 17.8-49.4) for kidney cancer. More recently, two additional studies also suggested higher risks of kidney cancer,3,4 although not as high as reported in the Tan study. Based on this data, authors of these studies have suggested individuals with Cowden Syndrome might consider yearly renal ultrasounds around the age of 40 (or alternatively, 10 years earlier than the earliest diagnosis in the family).

1. Pilarski R. J Genet Couns. 2009 Feb;18(1):13-27. PMID: 18972196.2. Bubien V et al. J Med Genet. 2013 Apr;50(4):255-63. PMID: 23335809.3. Tan MH et al. Clin Cancer Res. 2012 Jan 15;18(2):400-7. PMID: 2225225 4. Nieuwenhuis MH et al. Fam Cancer.2013 Aug 11. PMID: 23934601.

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