OA: Genetic basis of Cowden syndrome and its implications for clinical practice and risk management (+PTEN/OC)

Genetic basis of Cowden syndrome and its implications for clinical practice and risk management

Appl Clin Genet. 2016; 9: 83–92.

Published online 2016 Jul 13. doi:  10.2147/TACG.S41947

PMCID: PMC4948690

Huntsman Cancer Institute Family Cancer Assessment Clinic Salt Lake City, UT, USA

Ambry Genetics Medical Affairs Aliso Viejo, CA USA

Correspondence: Amanda Gammon, Room 1148 2000 Circle of Hope Dr, Huntsman Cancer Institute, Family Cancer Assessment Clinic, Salt Lake City, UT 84112, USA

 Two cases of ovarian tumors (one dysgerminoma and one cystadenoma) have been reported in women with CS.30 Unlike the much more common hereditary breast and ovarian cancer syndrome, the risk of ovarian cancer does not appear to be significantly elevated in CS.

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 PTEN in Ovarian Cancer 
(MyGeneCounsel -
National Cancer Institute-designated Comprehensive Cancer Center in Tennessee)


Table 1. Frequency of Somatic Gene Mutations in Epithelial Ovarian Cancer (EOC).

	EOC Overall	Type I				Type II
Gene Mutation		Low Grade Serous	Clear Cell	Endometrioid	Mucinous	High Grade Serous
PTEN	20% (Kurman and Shih 2011)	<1% mutation (TCGA 2011)	20% (Landen, Birrer, and Sood 2008)	<1–5% (Kuo et al. 2009; Willner et al. 2007​)	20–31% (Kurman and Shih 2011; Willner et al. 2007)	Rare