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Thursday, 10 May 2012

What Age Should You Be Tested for BRCA Gene Mutation?

Posted on 03:00 by Unknown
Jill Stopfer, MS, is a certified genetic counselor at the Mariann and Robert MacDonald Women’s Cancer Risk Evaluation Center at Penn’s Abramson Cancer Center. Here she discusses cancer genetic risk, and when is an appropriate time to test children for the BRCA1 or BRCA2 gene mutation.

Women and men with a BRCA1 or BRCA2 gene mutation may have questions about when, and if, their own children should be tested for the same mutation.

Genetic mutations can be passed from generation to generation and it’s important for those with a known BRCA1 or BRCA2 gene mutation to tell their close relatives including siblings, aunts and uncles, parents and adult children. But at what age should you consider testing children for a BRCA1 or BRCA2 gene mutation?

Learning you have a significantly higher chance to develop cancer one day can be scary for anyone – so it is important to consider the value in learning this information for children, teenagers and young adults.

Extensive research in families with known genetic risk due to BRCA1 and BRCA2 has shown that there is no increased risk for cancer in children. Therefore, there are no recommended interventions or special screening methods implemented during childhood. In addition, by choosing to test a child, a parent takes away that individual’s right to decide whether, and when to receive this information. Legally someone can pursue genetic testing for BRCA1/2 mutations at age 18, but it is important to know that even at age 18, screening and follow-up recommendations will not change. This is because the cancer risks associated with BRCA1/2 rarely manifest before the late 20’s or 30’s. So at age 18, national guidelines show there is still isn’t much to do even if a BRCA1 or BRCA2 mutation is present.

At age 25 however, things start to change for young women. Women who test positive for a BRCA1 or BRCA2 gene mutation generally start annual mammography, breast MRIs and breast exams at age 25. Therefore, some find this is an optimal time to consider testing. Young men are sometimes interested in pursuing genetic testing at later ages, since there is no screening that starts for men until later. However, some young men are interested in genetic testing to use in reproductive decision making.

There is no “one size fits all” prescription for genetic testing. Genetic counseling allows each person to understand how they would be affected, and weigh the pros and cons of being testing based on their individual circumstances. Getting tested for a BRCA1 or BRCA2 gene mutation can be overwhelming at any age. Fortunately no one has to go through the process alone.

Genetic counselors at the Mariann and Robert MacDonald Cancer Risk Evaluation Program can provide you with information and support to help each individual make the best decision for themselves about if and when to be tested.

For more information about genetic testing at the Abramson Cancer Center, or to speak with a genetic counselor, call 215-349-9093

Watch the Abramson Cancer Center’s Focus on Your Risk of Breast and Ovarian Cancer Conference to learn more about cancer genetics and risk assessment.

The Basser Research Center to Focus on BRCA1 and BRCA2

The Basser Research Center — BRC for BRCA — supports research on the BRCA1 and BRCA2 genes, harmful forms of which are linked to greatly increased risks of developing breast and ovarian cancer. The Center is named in honor of Mindy Gray’s sister, Faith Basser, who died of ovarian cancer at age 44.

The Basser Research Center was established with a $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray.


Emphasizing outreach, prevention, early detection, treatment and survivorship, the Basser Research Center will contribute to all stages of research and clinical care related to BRCA-related cancers.

Learn more about the Basser Research Center.
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