BRCA2 on the TODAY Show: Jill Martin’s Story

Photo credit Jill Martin Instagram

A couple weeks ago, I received a message in a group text chat with friends and patient advocates. Janet wrote, “Jill Martin is sharing our message of inheriting mutations from our fathers!”

Her sister Eileen shared, “I just watched it. It really touches home.”

Jill Martin, lifestyle contributor of the TODAY show, shared that she had been diagnosed with breast cancer after learning that she had inherited a mutation in the BRCA2 gene from her father. It was a powerful interview, especially because Jill is really in the thick of it, just recently having been diagnosed with breast cancer with plans for an upcoming mastectomy. I was moved by her courage to share her story with her colleagues and the world through the TODAY show. Similarly to how I felt when Janet and Eileen courageously shared their BRCA2 stories  when they were in the thick of it, going through breast cancer together and learning that they had inherited a BRCA2 mutation from their father.  

It isn’t new information that genetic mutations related to breast and other cancers can be passed on from both sides of the family. Unfortunately, it is still not widely known that this is the case leading many people, and even many healthcare providers, to underappreciate the importance of paternal side of the family in assessing cancer risk.

Jill felt she had an opportunity to share her story with the hopes that it could help others prevent cancer. She recognized that many are unaware of the possible genetic risk of cancer, especially when passed on from their father’s side of the family.  During the interview she said, “Let me just be clear, my mother had breast cancer. She tested negative for the BRCA gene.  They asked, ‘has your dad been tested?’  I said breast cancer does not run in my father’s family. They said, ‘get tested anyways.’ I am positive. My father is positive. I always associated this with something that women got.  And so many people I have spoken to say, ‘I didn’t know this is something that men should be tested for.’”

Jill encouraged all people to get genetic testing. In an essay she wrote, she says, “I am talking about this not to scare you, but to raise awareness so that maybe you can be tested and identify a BRCA or other genetic mutation earlier.”

Should everyone get genetic testing of the BRCA1 and BRCA2 genes? 

Current clinical guidelines only recommend genetic testing of the BRCA1, BRCA2 and other genes when there is a specific personal or family history of cancer.  However, there has been significant debate for many years about whether testing for all people as part of routine cancer risk assessment, should be considered. The pro side of this debate says that some people have a small family or may not know their family health history and an important cancer risk factor may be missed. Those opposed to general population screening are concerned that testing everyone may lead to more false positive results or overestimating cancer risks that could lead to unnecessary interventions that could cause more harm than good.  

Unfortunately, even with guidelines of who should have access to testing, we know we are not reaching all of the people who meet these guidelines and could benefit. Recent studies show that only a fraction of people who qualify for testing based on current criteria are actually offered testing.  And we also see tremendous disparities in who is offered testing with Black, Asian, Hispanic and older patients being less likely to be offered and undergo genetic testing.

Should you get genetic testing for the BRCA genes?  The following may help you sort through this question:

  • Do you have a personal or family history of breast, ovarian, prostate or pancreatic cancer?  It is important to know that these cancer types can be connected due to an underlying genetic risk. Genetic testing may be especially important to consider if cancers are diagnosed at younger ages (such as breast cancer before the age of 50) or in cases where cancers are more aggressive (e.g. family history of metastatic prostate cancer).  
  • We all get our genes from both our mothers and our fathers, and we can inherit cancer risk from either side of the family. It is important to consider both sides of your biological relatives when thinking of family history.
  • The chance to pass on a gene mutation is 50% and the odds are independent with each person. This means that not everyone in a family line will have the gene mutation.
  • It is important to consider the size of the family and also the biological sex of the relatives.  For example if one or both of your parents is an only child or comes from a small family, there may not be enough relatives to see the genetic risk. If your father had only brothers, we wouldn’t see ovarian cancer and would be much less likely to see breast cancer. We need to consider the full picture, including the history of other cancers, like prostate cancer, which can also be associated with inherited BRCA mutations. 
  • When considering the family, it is important to consider both the mother and father’s side of the family but also consider your first, second, and third degree relatives. So this means consider your siblings, nieces, nephews, parents, aunts, uncles, cousins, grandparents, great aunts and uncles and great grandparents.

If you have a personal or family history of cancer, or even if you don’t and are just concerned about your risk, a helpful next step may be to speak with a genetic counselor. Genetic counselors have expertise to review what is known,and what is unknown about your family and health history and can tell you more clearly about the chance of a genetic risk. They can help you understand the potential benefits, risks and limitations of genetic testing and make sure that you have the best test done for your individual situation. And if you do have genetic risk a genetic counselor can help make sure you have the information and connections you need to work towards early detection and cancer prevention for you and can help support sharing this information with your family. 

Thank you, Jill, for bravely sharing your story and being vulnerable during this really challenging time. Your openness will undoubtedly help others to understand their own risks to be able to work towards cancer prevention and early detection. 

Do you have a personal and/or family history of cancer? Have you had or are you considering genetic testing for cancer-related concerns? Do you want to learn more about the risk of developing cancer, what type of screening and prevention strategies are available, and what this means for your relatives? Visit our website to learn more about hereditary cancer risk related to genetic mutations in genes including BRCA1 and BRCA2.  Consider scheduling an appointment with a genetic counselor to learn more about what this means for you and your family.

by Katie Stoll