Dear [INSERT FAMILY MEMBER]:

I am writing to share some important health information that concerns our family. 

I have a hereditary {Pathogenic / Likely Pathogenic:122558} variant (also known as a mutation) in the [INSERT GENE] gene, which is associated with inherited risk of developing certain cancers.  Because of our family relationship, there is a possibility you could also have this gene mutation.  I want to make sure you have this meaningful information, so you can speak with your own healthcare providers about the option of genetic testing to help your own healthcare planning needs.

The specific mutation identified in [INSERT GENE] gene can be found on my report, which I have also shared with you. This report helps your healthcare provider order the correct test, as well as the interpretation of your results.

Additional information:

BRCA1 is classified as a high-risk cancer susceptibility gene. Pathogenic variants (also called mutations) in the BRCA1 gene are associated with an increased risk for certain cancers including breast, ovarian, pancreatic and prostate cancers.
 

    Current Estimated Cancer Risks for individuals with BRCA1 pathogenic variants (PV)

Cancer risks may be further modified based on family history, genetic modifiers, features of the specific variant identified, and environmental factors.

In addition to cancer risks, there may be important family planning considerations. A child who inherits two mutations in the BRCA1 gene (one from their mother and one from their father) may have a rare serious childhood onset condition similar to ‌Fanconi Anemia. For individuals with a BRCA1 mutation and planning to have children, we encourage consideration of genetic testing for their partner to inform family planning and risk management. 

{BRCA1 NCCN:145591} 

Both men and women can inherit and pass along a mutation in this gene.  Inheriting a gene mutation does not mean a person will develop cancer, but does put a person at increased cancer risk.  Fortunately, interventions are available to monitor carefully for cancer risk, as well as to reduce cancer risk significantly. ***Some interventions can be lifesaving.

A parent who has a mutation in the [INSERT GENE] gene has a 50% chance of passing it along to a child.  For those who test positive for a mutation, specialized medical care may be recommended to monitor or reduce cancer risk, so this can be important information to receive.
 

About genetic testing:

Genetic counseling is recommended prior to testing, in order to ensure the benefits and drawbacks of genetic testing are clear.  Genetic counseling typically includes a discussion about genetic testing options and the impact of test results to the person and their family members.  Many insurance companies include coverage for genetic testing when medically necessary and most people pay under $100. Financial resources may be available to those who need assistance with the cost.

If you live in the state of Pennsylvania or New Jersey, you can schedule an appointment with a genetic counselor at Penn Medicine by contacting 215-349-9093 or CREPteam@pennmedicine.upenn.edu. Visits are currently being conducted by telehealth (virtual) or in-person. Please let the scheduler know that one of your relatives has already been seen in our program.

If you live in another state, you can schedule an appointment with the Penn Medicine Telegenetics Program. You may also contact telegenetics@pennmedicine.upenn.edu or (215) 662-4303. Alternatively, you can find a local expert in cancer genetics through the National Society of Genetic Counselors.

Please let me know if I can give you any more details, or you are welcome to speak with the genetic counselor I met with.

Sincerely,

[INSERT NAME]