Article
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Chinese journal of cancer - 7 Jun 2016
Disciglio Vittoria, Devecchi Andrea, Palumbo Orazio, Carella Massimo, Penso Donata, Milione Massimo, Valle Giorgio, Pierotti Marco Alessandro, Vitellaro Marco, Bertario Lucio, Canevari Silvana, Signoroni Stefano, De Cecco Loris
Abstract excerpt
BACKGROUND: Androgen insensitivity syndrome (AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor (AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer (CRC) have been described. CASE PRESENTATION: Here, we present a male patient with AIS who developed multiple early-onset CRCs and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.