RT Journal Article SR Electronic T1 Male breast cancer in Cowden syndrome patients with germlinePTEN mutations JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 159 OP 164 DO 10.1136/jmg.38.3.159 VO 38 IS 3 A1 James D Fackenthal A1 Deborah J Marsh A1 Anne-Louise Richardson A1 Shelly A Cummings A1 Charis Eng A1 Bruce G Robinson A1 Olufunmilayo I Olopade YR 2001 UL http://jmg.bmj.com/content/38/3/159.abstract AB Cowden syndrome (CS) (OMIM 158350) is a multiple hamartoma syndrome associated with germline mutations in thePTEN tumour suppressor gene. While CS is characterised most commonly by non-cancerous lesions (mucocutaneous trichilemmomas, acral and palmoplantar keratoses, and papillomatous papules), it is also associated with an increased susceptibility to breast cancer (in females) and thyroid cancer, as well as non-cancerous conditions of the breast and thyroid. Here we report two cases of male breast cancer occurring in patients with classical CS phenotypes and germline PTEN mutations. The first subject was diagnosed with CS indicated primarily by mucocutaneous papillomatosis, facial trichilemmomas, and macrocephaly with frontal bossing at the age of 31 years. He developed breast cancer at 41 years and subsequently died of the disease. A PTENmutation, c.802delG, was identified in this subject, yet none of his family members showed evidence of a CS phenotype, suggesting that thisPTEN mutation may be a de novo occurrence. The second subject had a CS phenotype including multiple trichilemmomas and thyroid adenoma, developed male breast cancer at 43 years, and died of the disease at 57 years. He was a carrier of aPTEN mutation c.347-351delACAAT that cosegregated with the CS phenotype in affected family members. These two cases of male breast cancer associated with germlinePTEN mutations and the CS phenotype suggest that CS may be associated with an increased risk of early onset male as well as female breast cancer.