Male breast cancer in Cowden syndrome patients with germline PTEN mutations
James D Fackenthala, Deborah J Marshb, Anne-Louise Richardsonb, Shelly A Cummingsa, Charis Engc, Bruce G Robinsonb, Olufunmilayo I Olopadea
a Center
for Clinical Cancer Genetics, Department of Medicine, University of
Chicago Medical Center, Chicago, IL 60637, USA, b Kolling
Institute of Medical Research, Royal North Shore Hospital, St Leonards,
Sydney NSW 2065, and Department of Medicine, University of Sydney, NSW
2006, Australia, c Clinical Cancer Genetics and Human
Cancer Genetics Program, Comprehensive Cancer Center, and Division of
Human Genetics, Department of Internal Medicine, The Ohio State
University, 690C Medical Research Facility, 420 West 12th Avenue,
Columbus, OH 43201 USA, and CRC Human Cancer Genetics Research Group,
University of Cambridge, UK
Correspondence to: Dr Olopade, folopade{at}medicine.bsd.uchicago.edu
Revised version received 19 December 2000;
Accepted for publication 4 January 2001
Cowden syndrome (CS) (OMIM 158350) is a multiple hamartoma
syndrome associated with germline mutations in the
PTEN 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 PTEN mutation, c.802delG, was identified in this subject, yet none of his
family members showed evidence of a CS phenotype, suggesting that this
PTEN 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 a
PTEN mutation c.347-351delACAAT that
cosegregated with the CS phenotype in affected family members. These
two cases of male breast cancer associated with germline
PTEN 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.
Keywords: PTEN; male breast cancer; Cowden syndrome
© 2001 by J Med Genet
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