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Understanding the Benefits and Risks of Knowing Cancer Risk Through Genetic Testing

BCRF researchers study the need to understand potential effects of testing for BRCA1/2 during childhood adolescence

Mutations, or alterations, in the “cancer-fighting” genes BRCA1 or BRCA2, can dramatically increase person’s risk of breast cancer. Women with a mutation in BRCA1/2 have a 6-7 times greater risk of developing breast cancer and men with the mutation have an over 80 times greater risk. For these reasons, it is recommended that certain women with breast cancer be tested for BRCA1/2 mutations, such as if diagnosis was before age 50 or if multiple breast cancers are found in the same family. However, even though we know that there is 1 in 2 chance of a child inheriting the BRCA mutation from their affected parent, it is not recommended for adolescents to receive genetic testing. Dr. Angela Bradbury, a recipient of the Advanced Clinical Research Award from the Conquer Cancer Foundation (2013-2016) which is supported by BCRF, recently published in the Journal of Clinical Oncology a study “that highlights the need to better understand the potential benefits and harms of extending testing for BRCA1/2 during childhood adolescence.”

Women with a mutation in BRCA1/2 have a 6-7 times greater risk of developing breast cancer and men with the mutation have an over 80 times greater risk.

In this study, Dr. Bradbury and colleagues evaluate the impact of a family history of breast cancer or a family history of BRCA1/2 mutation on adolescent girls. They asked the girls and their mothers to complete surveys to assess various aspects of psychosocial adjustment including general anxiety, depression, self-esteem, breast-cancer specific distress, and perceived risk of breast cancer. Perhaps somewhat surprisingly, girls in families with a history of breast cancer did not experience worse general psychosocial adjustment (like depression or anxiety) than their peers. They did, however, have higher self-esteem but also higher breast-cancer specific distress. These girls were also more likely to report that their own risk of getting breast cancer was higher than other girls.

The study reported that the majority of parents discuss familial and genetic risk for breast cancer with their children, so it is not surprising that these children perceived a higher lifetime risk.  The authors suggest that there might be some potential benefit to extending genetic testing in adolescence, such as relief from uncertainty or cancer-specific stress in those that test negative. There may also be motivation for early lifestyle changes among those that test positive that may help to decrease the chance of getting breast cancer. More research is needed to explore these potential benefits, as well as the potential risks, of genetic testing in adolescents.

In her Conquer Cancer Foundation study supported by BCRF, Dr. Bradbury is evaluating whether adult participants choose to receive research genetic testing for breast cancer susceptibility. She will evaluate short and long-term benefits and risks as well as determine the factors that affect the decision to receive the results. Preliminary results show that 90% of those participants reached elected to receive their research results. Further analysis should be submitted for publication later this year and will lend insight to how knowledge and psychosocial responses vary by result and participant, and how these change over time.

The Breast Cancer Research Foundation is committed to understanding the causes of breast cancer including the impact of inherited susceptibility. In 2016, BCRF is investing over $4.5M in cancer control, outcomes, and prevention research and nearly $10 million in BRCA related studies. In addition, BCRF supports early career scientists like Dr. Bradbury, through its partnership with the American Society of Cancer Research, Conquer Cancer Foundation of ASCO and the American Society for Preventive Oncology.

To read the full study, click here.

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