Lamba A, Parekh P, Dvorak CT, Karlitz JJ. Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer. World J Med Genet 2018; 8(1): 1-4 [DOI: 10.5496/wjmg.v8.i1.1]
Corresponding Author of This Article
Parth Parekh, MD, Academic Fellow, Department of Gastroenterology, Carillion Clinic, 1906 Belleview Ave, Roanoke, VA 24016, United States. pjparekh@carilionclinic.org
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
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Lamba A, Parekh P, Dvorak CT, Karlitz JJ. Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer. World J Med Genet 2018; 8(1): 1-4 [DOI: 10.5496/wjmg.v8.i1.1]
World J Med Genet. Feb 27, 2018; 8(1): 1-4 Published online Feb 27, 2018. doi: 10.5496/wjmg.v8.i1.1
Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer
Amrit Lamba, Parth Parekh, Chris T Dvorak, Jordan J Karlitz
Amrit Lamba, Department of Internal Medicine, Tulane University, New Orleans, LA 70112, United States
Parth Parekh, Department of Gastroenterology, Carillion Clinic, Roanoke, VA 24016, United States
Chris T Dvorak, Department of Genetics, Tulane University, New Orleans, LA 70112, United States
Jordan J Karlitz, Department of Gastroenterology, Tulane University, New Orleans, LA 70112, United States
Author contributions: Lamba A drafted the manuscript; Lamba A, Parekh P and Karlitz JJ acquired the data; Lamba A, Parekh P, Dvorak CT and Karlitz JJ critically revised the manuscript; Karlitz JJ created the study concept and is the article guarantor.
Informed consent statement: The patient involved in this study gave her written informed consent authorizing use and disclosure of her protected health information.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Correspondence to: Parth Parekh, MD, Academic Fellow, Department of Gastroenterology, Carillion Clinic, 1906 Belleview Ave, Roanoke, VA 24016, United States. pjparekh@carilionclinic.org
Telephone: +1-845-5513357
Received: September 8, 2017 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 Processing time: 140 Days and 7 Hours
ARTICLE HIGHLIGHTS
Case characteristics
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).
Clinical diagnosis
Support for a familial polyposis/CRC familial syndrome based on genetic mutation of AXIN2.
Differential diagnosis
Familial polyposis/CRC familial syndrome from another mutation.
Laboratory diagnosis
AXIN2 gene variant on genetic testing.
Imaging diagnosis
Multiple polyps found on colonoscopy.
Pathological diagnosis
Twelve tubular and tubuloviloous adenomas.
Treatment
Increased frequency of screening colonoscopies for the patient, her family members and possible genetic testing and counseling.
Related reports
Two other families with significant polyposis/CRC findings with AXIN2 mutations.
Term explanation
Polyposis: 10 or more colonic polyps; Oligodontia: Congenital absence of 6 or more adult teeth.
Experiences and lessons
It will be important to categorize all genetic abnormalities to better understand their clinical significance.
