Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer

doi:10.4251/wjgo.v8.i1.83

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World Journal of Gastrointestinal Oncology

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1948-5204

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastrointest Oncol. Jan 15, 2016; 8(1): 83-98
Published online Jan 15, 2016. doi: 10.4251/wjgo.v8.i1.83

Table 5 Pathogenic germline mutations of juvenile polyposis syndrome

Mutation	Effect	Ref.
SMAD4
c.1244-1247delAGAC	Hotspot mutation serious course of JPS with numerous cases of polyps, tumors located in the stomach and intestines	Howe et al[106]
BMPR1A
c.230+452_333+441dup 1995	Frameshift mutation producing a truncated protein (p.D112NfsX2)	Yamaguchi et al[107]

JPS: Juvenile polyposis syndrome.

Citation: Tezcan G, Tunca B, Ak S, Cecener G, Egeli U. Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer. World J Gastrointest Oncol 2016; 8(1): 83-98
URL: https://www.wjgnet.com/1948-5204/full/v8/i1/83.htm
DOI: https://dx.doi.org/10.4251/wjgo.v8.i1.83