Fourth Issue, Series Three

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Is It Time to Reconsider Testing Adolescents for Familial BRCA Mutations?

Cristi Radford, MS, CGC
Genetic Counseling

Parents with inherited cancer mutations often wonder when to disclose results to their children and what affect it will have on them. A recent study examined the impact of a family history of breast cancer or a familial BRCA1/2 mutation on girls aged 11 to 19 years.1 The study included 208 adolescent females who had at least 1 family member with breast cancer and 69 who had a mother with a BRCA1/2 mutation. For comparison, it also enrolled 112 adolescent girls who did not have a family history of breast cancer. All individuals completed assessments on psychosocial adjustment, breast cancer–specific distress, and perceived risk of breast cancer.

Data from the study suggested that adolescents from a family with a breast cancer history, including those whose mothers were BRCA1/2 positive, had higher self-esteem and did not have poorer psychosocial adjustment than their peers with no family history of breast cancer. In addition, depression seemed to decrease as the number of individuals in the family with breast cancer increased. The reason for this is unclear; however, it is suggested that exposure to several individuals in a family with breast cancer might trigger adaptive responses.

Adolescents who were aware of their mother’s BRCA1/2-positive status were more likely to report themselves at higher risk for breast cancer than their peers. The same was true to a lesser extent for individuals with a familial risk of breast cancer but without a mother with a BRCA1/2 mutation. The perceived breast cancer risk also increased with adolescent age. These findings are important because they suggest that genetic testing in adolescents may provide relief from uncertainty, reduce cancer-specific distress for those testing negative, and allow for earlier incorporation of genetic test results into an individual’s genetic identity.

The study by Bradbury and colleagues is one of the first to examine psychosocial adjustment and perceived risk among adolescent girls from families with BRCA1/2 or breast cancer history. Although the number of gene-positive participants was small, it suggests there could be possible benefits to the genetic testing of adolescents. Current professional guidelines recommend against the testing of children for adult-onset inherited cancer syndromes in the majority of situations. However, the results from this study suggest there is a need to better understand the impact, both good and bad, of offering genetic testing to adolescents for adult-onset inherited cancer syndromes.

Furthermore, studies are needed as children sometimes receive incidental finding results when undergoing a test, such as exome analysis, for an unrelated condition. As advances in genetic sequencing continue to take place and cost continues to decrease, children are more likely to receive an incidental finding report that includes a positive result for a gene indicating susceptibility to an adult-onset inherited cancer. Information on how these children and adolescents process the information at different stages of development may allow for interventions to optimize psychosocial and behavior adaptation, as well as health outcomes. In addition, it may be learned that genetic testing in adolescents who have a parent with a familial mutation is more helpful than harmful.


  1. Bradbury AR, Patrick-Miller L, Schwartz LA, et al. Psychosocial adjustment and perceived risk among adolescent girls from families with BRCA1/2 or breast cancer history. J Clin Oncol. 2016;34:3409-3416.
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