Hereditary Nonpolyposis Colorectal Cancer / 이화의대지
The Ewha Medical Journal
; : 29-34, 2017.
Article
in Korean
| WPRIM (Western Pacific)
| ID: wpr-95359
Responsible library:
WPRO
ABSTRACT
Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common hereditary colorectal cancer syndrome and accounts for about 5% of colorectal cancer. It is inherited as autosomal dominant type and is caused by germline mutations in mismatch repair genes such as MLH1, MSH2, MSH6, and PMS2. Patients with HNPCC are characterized by a high level of microsatellite instability. They commonly develop colorectal cancer at young age and increase risk of extra-colic malignancies, especially endometrial cancer. They also show better oncologic outcomes compared to sporadic colorectal cancer. Several tools are used in diagnosis of HNPCC, including history taking, microsatellite instability test, immunohistochemistry for mismatch repair protein, and gene test. Affected patients and their families should get genetic counseling and regular surveillance for cancers, which can improve their survival rate.
Full text:
Available
Health context:
SDG3 - Health and Well-Being
/
SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
Health problem:
Target 3.4: Reduce premature mortality due to noncommunicable diseases
/
Colon and Rectum Cancers
/
Endocrine System Diseases
Database:
WPRIM (Western Pacific)
Main subject:
Immunohistochemistry
/
Colorectal Neoplasms
/
Colorectal Neoplasms, Hereditary Nonpolyposis
/
Genetic Testing
/
Survival Rate
/
Endometrial Neoplasms
/
Germ-Line Mutation
/
Diagnosis
/
Microsatellite Instability
/
DNA Mismatch Repair
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
Language:
Korean
Journal:
The Ewha Medical Journal
Year:
2017
Document type:
Article