Published online Feb 27, 2018. doi: 10.5496/wjmg.v8.i1.1
Peer-review started: September 22, 2017
First decision: October 30, 2017
Revised: November 21, 2017
Accepted: December 29, 2017
Article in press: December 29, 2017
Published online: February 27, 2018
A 55-year-old woman with 12 tubular and tubulovillous adenomas and signifiant family history of colon polyps and gastrointestinal neoplasms, including colorectal cancer (CRC).
Support for a familial polyposis/CRC familial syndrome based on genetic mutation of AXIN2.
Familial polyposis/CRC familial syndrome from another mutation.
AXIN2 gene variant on genetic testing.
Multiple polyps found on colonoscopy.
Twelve tubular and tubuloviloous adenomas.
Increased frequency of screening colonoscopies for the patient, her family members and possible genetic testing and counseling.
Two other families with significant polyposis/CRC findings with AXIN2 mutations.
Polyposis: 10 or more colonic polyps; Oligodontia: Congenital absence of 6 or more adult teeth.
It will be important to categorize all genetic abnormalities to better understand their clinical significance.