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J Genet Couns. 2009 Apr;18(2):147-59. doi: 10.1007/s10897-008-9200-1. Epub 2008 Nov 1.

Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer.

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Women, Children and Family Health Sciences, University of Illinois, Chicago, IL 60612, USA.


This qualitative study identified four life trajectories that influenced the decision in young women to have genetic testing for mutations in BRCA1/2 and subsequent risk reduction decisions after receiving a positive mutation result. Fifty nine women between the ages of 18-39 years were interviewed in this grounded theory study, 44 of those tested were found to have a mutation in either BRCA1 or BRCA2. Of those with a mutation, 23 had no history of cancer and 21 had a breast cancer diagnosis. Analysis of the 44 participants tested found that risk reducing decisions were related to the life trajectories that preceded genetic testing. These life trajectories included: 1) Long-standing awareness of breast cancer in the family, 2) Loss of one's mother to breast cancer at a young age, 3) Expression of concern by a health care provider, and 4) Personal diagnosis of breast cancer. Understanding possible influences behind decision making for genetic testing and risk reduction in young women may assist health care providers in offering age appropriate guidance and support.

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