Date of Award


Document Type

Campus Access Thesis


Genetic Counseling

First Advisor

Karen A Brooks


OBJECTIVES: APC-associated polyposis is caused by mutations in the APC gene and includes familial adenomatous polyposis (FAP), an autosomal dominant cancer predisposition syndrome which has a lifetime risk of colon cancer of almost 100%. Identifying a genetic mutation can provide important health information to families. Family communication about genetic testing has been studied before in other hereditary cancer syndromes and genetic conditions. These studies have identified facilitating factors and impediments to family communication. The objectives of this study were to assess patterns and barriers to communication of genetic information in an extended family with a rare APC mutation, R405X. METHODS: Thirteen of twenty-six individuals with a positive APC mutation test, or obligate carries of the R405X mutation completed a 37-item survey on the communication-sharing of genetic risk information within a family and the use of genetic testing. Six of ten individuals participated in an optional follow-up telephone interview. RESULTS: The majority of participants reported having at least one family member diagnosed with polyposis or colon cancer (n = 12) and knew of this relative's diagnosis prior to their own diagnosis (n = 5). One of the participants reported being adopted. Nearly all participants report having genetic counseling (n = 11). Eight themes emerged in this study (1) Have testing, (2) seriousness of the condition/likelihood of developing cancer, (3) known in family, (4) genetic counseling, (5) communication (6) understanding/knowledge gained, (7) invincibility/resistance, (8) misconceptions/ misunderstanding/limitations. CONCLUSIONS: Patients are communicating more with their first-degree relatives than with their more distant relatives. Health care professionals should review strategies of communication of genetic risk information to at-risk family members with their patients.