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Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications

20 Years
Open (Enrolling)
Hereditary Nonpolyposis Colorectal Cancer

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Trial Information

Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications

HNPCC is an autosomal dominant disease that is clinically characterized by the development
of colorectal cancer (CRC) at an early age (mean age 44 years old). Four genes have been
known to be related to this hereditary disease. It shows an excess of synchronous and
metachronous tumors as well as a preponderance of right-sided tumors (70%). Another feature
has been seen among the families of the HNPCC patients is the occurrence of adenocarcinomas
at other sites (particularly at the endometrial, ovary, stomach, pancreas, ureter, renal
pelvis, and skin). Difficulties arise in distinguishing environmental factors and genetic
predisposition for familial clustering of CRC. The discovery of HNPCC germline mutations has
been momentous in that it enables a clear distinction between carriers and noncarriers for
those who were previously assigned a 50% risk of germline mutation. The informed consent
provided by patients is important for the process of familial study and the search for
germline mutations, these will further provide information for education and counseling.
HNPCC has been reported to be responsible for about 1% to 13% of all CRC. The frequency of
HNPCC varies by geographical areas. The true incidence of HNPCC in Taiwan area is unclear.
From year 1995 to 2000, 50 out of 4500(1.1%) patients were HNPCC according to the Amsterdam
I criteria. MMR gene databases are crucial to understand the relationship between genotype
and phenotype. Kindred sharing the same mutations but living in different places will
provide the information to assess the contribution of environmental factors to colorectal
carcinogenesis. The related clinical and basic researches are thus important for
understanding the mutation spectrum of MMR genes, interaction between oncogenes, tumor
suppressor genes, and roles of genetic polymorphisms in modifying MMR genes in Taiwan.

Inclusion Criteria:

- Select all affected individuals. If the affected is unavailable, select the spouse
and adult children (20+) of these unavailable affected individuals.

- Select unaffected individuals in the following priority order:

1. study both parents of the affected individuals;

2. if parents are not available, study up to two siblings of each missing parent
(if both parents are deceased, study four siblings - two from each parent);

3. study up to five unaffected siblings (age 20 or older) of the affected
individual; if more than five siblings are available for study, select the
siblings from oldest to youngest;

4. study up to three children (age 20 or older) of the affected individual; again,
select the three oldest children if more than three are available;

5. if the two affected individuals in the multiplex family are not siblings, (first
cousins, for example, then study common grandparents - if common grandparents
are not available, study siblings of these grandparents) when children of the
affected individual's are studied, the child's unaffected parent will also be
selected for study.

Exclusion Criteria:

- N/A

Type of Study:


Study Design:

Observational Model: Family-Based, Time Perspective: Prospective

Principal Investigator

Chao Hsiung, PhD.

Investigator Role:

Study Director

Investigator Affiliation:

Division of Biostatistics and Bioinformatics, National Health Research Institites


Taiwan: Department of Health

Study ID:




Start Date:

May 2002

Completion Date:

Related Keywords:

  • Hereditary Nonpolyposis Colorectal Cancer
  • Colorectal Neoplasms
  • Colorectal Neoplasms, Hereditary Nonpolyposis