EPHB2 Variants in Familial Colorectal Cancer
Author Information
Author(s): Zogopoulos George, Jorgensen Claus, Bacani Julinor, Montpetit Alexandre, Lepage Pierre, Ferretti Vincent, Chad Lauren, Selvarajah Subani, Zanke Brent, Hudson Thomas J., Pawson Tony, Gallinger Steven
Primary Institution: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
Hypothesis
Germline EPHB2 mutations may account for a fraction of the genetic alterations underlying hereditary colorectal cancer.
Conclusion
Rare EPHB2 variants may contribute to a small fraction of hereditary colorectal cancer.
Supporting Evidence
- Three novel nonsynonymous missense alterations were detected in the EPHB2 gene.
- The G787R variant causes impaired receptor kinase activity and is therefore pathogenic.
- The A438T variant retains its receptor function and likely represents a neutral polymorphism.
- Loss of heterozygosity was observed in tumor tissue from the G787R variant case.
Takeaway
Some people with a family history of colon cancer might have rare changes in a gene called EPHB2 that could affect their cancer risk.
Methodology
The study screened for germline EPHB2 sequence variants in 116 familial colorectal cancer cases using DNA sequencing.
Limitations
The study focused on a specific population and may not represent all familial colorectal cancer cases.
Participant Demographics
116 familial colorectal cancer cases, average age at diagnosis 54 years, 59 females and 57 males.
Digital Object Identifier (DOI)
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