Today Show Personality Gets Breast Cancer Diagnosis One Week After Testing Positive for BRCA Gene Mutation
5 min. read
Baptist Health Cancer Care
“If I had known I was BRCA positive, I would have gotten screened more regularly, with an MRI alternating with my mammograms.” That was the message from Jill Martin, lifestyle contributor for NBC’s Today show, in her announcement earlier this week that she has been diagnosed with breast cancer.
Ms. Martin’s said her diagnosis was a particular shock because it came just one week after she learned from an at-home genetic testing kit that she had tested positive for the BRCA2 gene mutation. In addition, she says she had had a clear mammogram earlier this year. “And it was perfect!”
In an interview with People magazine, she adds that her grandmother passed away from breast cancer and that her mother – healthy now – had a double mastectomy in her late 40s after being diagnosed with ductal carcinoma in situ (DCIS), often referred to as stage 0 breast cancer. If left untreated, DCIS can turn into invasive cancer, says the American Cancer Society (ACS).
Arelis Mártir-Negrόn, M.D., medical director of Clinical Genetics at Baptist Health Miami Cancer Institute, says that there are many genetic mutations associated with breast cancer, but BRCA1 or BRCA2 are the most prevalent.
Arelis Mártir-Negrόn, M.D., medical director of Clinical Genetics at Baptist Health Miami Cancer Institute
“People such as Ms. Martin who have BRCA2 harmful variants or mutations are at a much higher risk than the general population of developing breast, ovarian and pancreatic cancer, as well as melanoma,” Dr. Mártir-Negrόn says, adding that men with the genetic mutation have an increased risk for male breast cancer, prostate and pancreatic cancer, and melanoma. “Not only is the cancer risk higher for people with the BRCA2 gene mutation, but those who do get cancer tend to do get it at a younger age.”
Dr. Mártir-Negrόn says that women of Ashkenazi Jewish descent are at a higher frequency for a BRCA gene mutation and that, if they have a family member who has ever been diagnosed with cancer, they should consider genetic testing and counseling.
Understanding BRCA1 and BRCA2
According to the National Cancer Institute (NCI), BReast CAncer gene 1 (BRCA1) and BReast CAncer gene 2 (BRCA2) are genes that produce proteins that help repair damaged DNA.
“Everyone has two copies of each of these genes – one copy inherited from each parent,” the NCI states. “BRCA1 and BRCA2 are sometimes called tumor suppressor genes because when they have certain changes, called harmful (or pathogenic) variants (or mutations), cancer can develop.”
A harmful variant in BRCA1 or BRCA2 can be inherited from either parent, the NCI says. “Each child of a parent who carries any mutation in one of these genes has a 50 percent chance of inheriting the mutation.” These inherited mutations are present from birth in all cells in the body.
Although genetic testing is available to see if someone has inherited a harmful variant in BRCA1 and BRCA2, such tests “are not currently recommended for the general public,” the NCI says. Instead, they recommend that testing “be focused on those who have a higher likelihood of carrying a harmful BRCA1 or BRCA2 variant, such as those who have a family history of certain cancers.”
Some people may choose to have genetic testing at home, such as Ms. Martin did, via direct-to-consumer (DTC) testing. However, the NCI cautions that these at-home tests may not always reveal the absence or presence of cancer.
“People should be aware that DTC tests may not be comprehensive, in that some tests do not test for all of the harmful mutations in the two genes,” the NCI states. “Receiving a negative result with a DTC test may not mean that they don’t have a harmful variant in BRCA1 or BRCA2.”
Breakthrough medications and treatments
Louise E. Morrell, M.D., medical director of Lynn Cancer Institute which, along with Miami Cancer Institute, is part of Baptist Health Cancer Care, says that cancer genetic testing is one of the areas of medical science that continues to have impressive advances.
Louise E. Morrell, M.D., medical director of Lynn Cancer Institute, part of Baptist Health Cancer Care
“Cancer genetic testing can provide valuable information about your genetic risk and more, and it is more widely available now,” Dr. Morrell says. “We’re now starting to see the introduction of breakthrough medications and treatments that are greatly expanding the utility of cancer genetic testing.”
Testing can be appropriate for both people without cancer as well as people who have been diagnosed with cancer, Dr. Morrell goes on to say. “If someone knows they have a mutation in one of these genes, they can take steps to reduce their risk or detect cancer early. And if they ever do get a cancer diagnosis, the information about their particular genetic mutation can help guide our treatment plan.”
In conjunction with the Morgan Pressel Center for Cancer Genetics, Lynn Cancer Institute is launching a cancer genetic screening program at Lynn Women’s Health and Wellness Institute on the campus of Boca Raton Regional Hospital, also part of Baptist Health.
“All women who undergo mammograms at the Institute will be offered genetic screening and testing, when indicated, so that they will know if they or their family members may be more susceptible to certain other types of cancers,” says Dr. Morrell. She adds that genetic counseling is also recommended for those people as well to help them understand the test results and to make sure the most appropriate test was done.
Next steps for Jill Martin
Ms. Martin, meanwhile, says she has opted for a bilateral (double) mastectomy, which she will undergo this week in New York to prevent recurrence. “I am strong, and I will fight this,” she says. In addition, she will have her ovaries and fallopian tubes removed later this year, as women with the BRCA2 gene are also at risk for developing ovarian cancer.
Ms. Martin says she wishes she had known that an MRI can pick up cancers that mammograms miss. “While my mammograms missed the presence of breast cancer, an MRI might have helped me catch it earlier,” she says. “Earlier testing also might have led me to the opportunity to have preventative surgery – which is something I had planned to do only days before I found out that I actually had cancer.”
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