NDLI: Histone Demethylase Gene PHF2 Is Mutated in Gastric and Colorectal Cancers

Content Provider	SpringerLink
Author	Lee, Joo Hwa Yoo, Nam Jin Kim, Min Sung Lee, Sug Hyung
Copyright Year	2016
Abstract	Alterations of genes involved in histone modification are common in cancers. A histone demethylase-encoding gene PHF2 is considered a putative tumor suppressor gene (TSG). PHF2 is essential for p53-mediated TSG functions such as chemotherapy-mediated cancer cell killing. However, inactivating mutations of PHF2 that could inactivate its functions are not reported in cancers. In a genome database, we observed that the PHF2 gene possessed mononucleotide repeats, which could be mutated in cancers with high microsatellite instability (MSI-H). For this, we analyzed 124 colorectal cancers (CRCs) and 79 gastric (GCs) cancers for the mutations and their intratumoral heterogeneity (ITH). Twenty-two of 79 CRCs (27.8 %) and 7 of 34 GCs (20.6 %) harboring MSI-H exhibited frameshift mutations. However, we found no such mutations in microsatellite stable/low MSI (MSS/MSI-L) cancers. Also, we studied ITH for the detected frameshift mutations in 16 cases of CRCs and detected ITH in two (12.5 %) cases. Our data reveal that TSG gene PHF2 harbors mutational ITH as well as the frameshift mutations in CRC and GC with MSI-H. Based on this, it is suggested that frameshift mutations of PHF2 may play a role in tumorigenesis through its TSG inactivation in CRC and GC.
Starting Page	471
Ending Page	476
Page Count	6
File Format	PDF
ISSN	12194956
Journal	Pathology & Oncology Research
Volume Number	23
Issue Number	3
e-ISSN	15322807
Language	English
Publisher	Springer Netherlands
Publisher Date	2016-10-15
Publisher Place	Dordrecht
Access Restriction	Subscribed
Subject Keyword	PHF2 Tumor suppressor gene Frameshift mutation Cancer Microsatellite instability Intratumoral heterogeneity Cancer Research Oncology Pathology Immunology Biomedicine
Content Type	Text
Resource Type	Article
Subject	Oncology Pathology and Forensic Medicine Cancer Research

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