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A family affair: Risk recall and risk communication in BRCA mutation carriers

Posted on:2010-10-21Degree:M.SType:Thesis
University:Sarah Lawrence CollegeCandidate:Thomas, LaurenFull Text:PDF
GTID:2446390002471874Subject:Biology
Abstract/Summary:
Women with a BRCA1/2 mutation have a significantly increased lifetime risk to develop breast and/or ovarian cancer. Family members of BRCA1/2 mutation carriers are also at risk of inheriting a BRCA1/2 mutation. When a patient tests positive for the mutation, he/she is responsible for conveying this information to his/her children, siblings, and parents. This study focuses on risk recall and familial risk communication in BRCA mutation carriers. The investigator conducted phone interviews with 27 BRCA1/2 mutation carriers who underwent genetic testing and counseling at Montefiore Medical Center. Study results demonstrated two trends: (1) 30% of participants accurately recall the 50% risk to pass the mutation to their children and the 50% risk that their siblings also carry the mutation, and (2) of family members at equal risk to inherit a BRCA mutation, daughters were tested more often than sons, and sisters were tested more often than brothers. The results suggest that information provided in a cancer genetic counseling session is not always remembered accurately, and this influences the information given to at-risk family members. These results also demonstrate that educational level has a significant influence on patient recall of risk information. These findings suggest that long term follow-up ideally should be offered to BRCA mutation carriers, to be reminded of their risk and their family's risk, over time as their children age, and as other events occur during their lives.
Keywords/Search Tags:Risk, Mutation, Family, Recall
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