Abstract

Research in human genetics has permitted the localization of a number of genes that confer an increased risk of cancer. BRCA1 is a genetic locus that is associated with an increased risk of breast and ovarian cancer in some families. A large kindred residing in Utah and Idaho has been extensively studied at the University of Utah and found to have markers on chromosome 17q that are tightly linked with the BRCA1 gene. This kindred (K2082) is the largest 17q linked breast cancer family reported to date by any group. It is now possible to accurately test individuals in this kindred for the presence of this gene. For women, the presence of the gene substantially increases their lifetime risk of breast and ovarian cancer. Men who are gene carriers appear to have no associated health risks, but are at risk for transmitting the gene to their children. At the present time, knowledge of how individuals and families will respond to this type of information is limited. This research project will offer genetic testing to approximately 400 adult men and women in this kindred and provide them with individual results and counseling within a structured, multidisciplinary clinical environment. Women and men who are both gene positive and gene negative will be evaluated before testing and 1 week, 3 months, 1 year, and 2 years after testing to assess the psychosocial impact of the information on individuals and families. In addition, the use of preventive health services and individual health related behaviors will be evaluated pre and post genetic testing. The findings of this study will be important for our understanding of the psychological and behavioral responses to predictive testing for breast and ovarian cancer. Such an understanding is essential to the development of safe and effective genetic testing and counseling protocols for these forms of cancer. The results also may assist in the development of predictive genetic testing protocols for other serious, adult onset conditions.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Research Project (R01)
Project #
5R01CA063681-02
Application #
2105693
Study Section
Behavioral Medicine Study Section (BEM)
Project Start
1994-09-01
Project End
1998-03-31
Budget Start
1995-04-01
Budget End
1996-03-31
Support Year
2
Fiscal Year
1995
Total Cost
Indirect Cost

  Institution

Name
University of Utah
Department
Genetics
Type
Schools of Medicine
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112

  Publications

Hamann, Heidi A; Smith, Timothy W; Smith, Ken R et al. (2008) Interpersonal responses among sibling dyads tested for BRCA1/BRCA2 gene mutations. Health Psychol 27:100-9
Stroup, Antoinette M; Smith, Ken R (2007) Familial effects of BRCA1 genetic mutation testing: changes in perceived family functioning. Cancer Epidemiol Biomarkers Prev 16:135-41
Wylie, Jean E; Smith, Ken R; Botkin, Jeffrey R (2003) Effects of spouses on distress experienced by BRCA1 mutation carriers over time. Am J Med Genet C Semin Med Genet 119C:35-44
Botkin, Jeffrey R; Smith, Ken R; Croyle, Robert T et al. (2003) Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A 118A:201-9
Smith, Ken R; Zick, Cathleen D; Mayer, Robert N et al. (2002) Voluntary disclosure of BRCA1 mutation test results. Genet Test 6:89-92
Hamann, H A; Croyle, R T; Venne, V L et al. (2000) Attitudes toward the genetic testing of children among adults in a Utah-based kindred tested for a BRCA1 mutation. Am J Med Genet 92:25-32
Zick, C D; Smith, K R; Mayer, R N et al. (2000) Genetic testing, adverse selection, and the demand for life insurance. Am J Med Genet 93:29-39
Smith, K R; West, J A; Croyle, R T et al. (1999) Familial context of genetic testing for cancer susceptibility: moderating effect of siblings' test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev 8:385-92
McKinnon, W C; Baty, B J; Bennett, R L et al. (1997) Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. JAMA 278:1217-20
Croyle, R T; Smith, K R; Botkin, J R et al. (1997) Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychol 16:63-72

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