Protocol Number: 95-HG-0165

Title:

Outcomes of Education and Counseling for HNPCC / Lynch Syndrome Testing

Number:

95-HG-0165

Summary:

The initial phase of the protocol offered genetics education, counseling and the option of genetic testing for HNPCC / Lynch syndrome. Genetic counseling and testing are no longer being offered, however, we continue to work with families initially recruited through the protocol to explore family communication about genetic risk and cancer screening.

Members of participating families are invited to participate in a telephone survey intended to gather information on communication practices about genetic risks for cancer and cancer screening. Non-biological family members (e.g. spouses, significant others, adopted and step-siblings/parents) may also be recruited for the telephone interview. In addition, family members who did not receive genetic services within the protocol are invited, through participating family members, to complete a single, brief paper/pencil questionnaire and consider participating in the telephone interview.

The primary outcome measures will be the assessment of cancer risk perception, cancer screening practices, views regarding genetic services, and family communication about HNPCC / Lynch syndrome by family members.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

Patients 18 years of age or older.

1. Subjects presenting with a family history consistent with the Amsterdam criteria for HNPCC. 1) At least two relatives with histologically verified colorectal cancer; one of them should be a first degree relative of the other two. 2) At least two successive generations should be affected, and 3) In one of the relatives colorectal cancer should be diagnosed under 50 years of age, or;

2. Subjects diagnosed with colorectal cancer under 41 years of age (MSI status considered when tumor/polyp sample available) or;

3. Subjects with HNPCC associated cancer/polyps under the age of 41 which demonstrates a positive MSI phenotype, or;

4. Subjects with multiple primary HNPCC associated cancers regardless of family history, or;

5. Subjects with colorectal or other HNPCC associated tumor/polyp demonstrating a positive MSI phenotype and at least one second degree (or closer) and one third degree (or closer) relative with a HNPCC associated cancer; one of the affected family members (proband included) must have either right sided colon cancer, multiple primary HNPCC associated cancers or had the diagnosis of cancer prior to age 51 years, or;

6. Subjects who have a family member with a documented mutation in one of the HNPCC genes.

Special Instructions:

This protocol offers gene testing for HNPCC, one form of hereditary colon cancer, however, we are equally interested in individuals who may NOT choose testing.

Participation includes 2 (maximum) trips to NIH (expenses paid) and 2 telephone questionnaires.

Keywords:

Colon Cancer

Family History

High Risk

Behavioral and Attitudinal Changes

Family Responses

Lynch Syndrome

Recruitment Keyword(s):

Endometrial Cancer

Ovarian Cancer

Stomach Cancer

Colorectal Cancer

Condition(s):

Colonic Neoplasm

Colonic Polyps

Hereditary Neoplastic Syndrome

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Interest in genetic testing for colon cancer susceptibility: cognitive and emotional correlates

Psychological issues in genetic testing for breast cancer susceptibility

Identification of an HNPCC family

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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