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

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

Abstract 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) hav...

Full description

Bibliographic Details
Main Authors: Vittoria Disciglio, Andrea Devecchi, Orazio Palumbo, Massimo Carella, Donata Penso, Massimo Milione, Giorgio Valle, Marco Alessandro Pierotti, Marco Vitellaro, Lucio Bertario, Silvana Canevari, Stefano Signoroni, Loris De Cecco
Format: Article
Language:English
Published: BMC 2016-06-01
Series:Chinese Journal of Cancer
Subjects:
Androgen insensitivity syndrome
Androgen receptor
Colorectal cancer
Single nucleotide polymorphism array
Testosterone
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s40880-016-0115-1

Internet

http://link.springer.com/article/10.1186/s40880-016-0115-1

Similar Items