We’re fortunate to live in an age where the effectiveness of diagnostic and genetic testing is always improving. While genetic testing has existed in some form for the past 30 years, awareness of its availability has recently been heightened through education and media exposure. This leads to many questions: Do I need to be tested, what type of test is right for me, where do I start, what steps should I take, and where should I go if I need treatment? Drs. Michael Pearl and Barbara Nemesure explain how a newly created program for those at high risk for breast and ovarian cancers can answer these questions.
What cancers are you focusing on?
Our program focuses primarily on ovarian and breast cancers. Women who are at high risk for these cancers typically fall into three categories. They have a family history of cancer. They carry a genetic predisposition, such as a mutation of one of the BRCA genes or for Lynch syndrome. And three, they have already had one type of cancer, which puts them at risk for recurrence or for another type. In a very small percentage, these categories apply to men as well.
What is a mutation of the BRCA gene?
Everyone is born with BRCA genes. A woman’s risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in the BRCA1 or BRCA2 gene from her mother or father. Men with these mutations also have an increased risk of breast cancer, and both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of additional types of cancer.
Is there a genetic test for Lynch syndrome?
Lynch syndrome, also called hereditary nonpolyposis colorectal cancer, is an inherited disorder that increases the risk of many types of cancer, particularly colorectal and endometrial cancers. Approximately three to five percent of the 140,000 cases of colorectal cancer and 50,000 cases of endometrial cancers diagnosed annually are caused by Lynch syndrome. It’s important for people at risk for Lynch syndrome to undergo genetic screening (a simple blood test) so they can be aware and take the appropriate preventive steps. Risk factors include a personal or family history of colon cancer at a young age and a family history of endometrial cancer.
How is a genetic mutation diagnosed?
That’s where genetic testing comes in. Genetic tests can check for mutations in the BRCA1 and BRCA2 genes and the genes associated with Lynch syndrome. If a harmful mutation is found, several options are available to help a person manage their cancer risk.
What are these options?
It starts with a discussion with a genetic counselor. This is recommended for women with a family and/or personal history of cancer, those who have known or suspected genetic predisposition to cancer and all women under 40 years old with breast cancer. All women with endometrial cancer should undergo molecular screening for Lynch syndrome. In addition, women who are concerned about the possibility of developing cancer may also benefit from a visit with a genetic counselor. The results can either put their mind at ease or help them to develop a plan for the future. Genetic counseling can’t be overemphasized. It helps women to understand their risk and to put it into perspective. From there, they can work with healthcare professionals to seek further testing and/or reduce or manage the risk through lifestyle interventions and other measures.
Where is this program available?
Recently, Stony Brook University Cancer Center launched a Women’s High-Risk Cancer Clinic, which provides evaluation, management and treatment. This comprehensive initiative — the only one on Long Island — evolved from Stony Brook’s strengths in gynecologic oncology, breast health and genetic counseling. It combines these three disciplines into a coordinated, multidisciplinary program that allows women to receive comprehensive care in one place. A dedicated nurse navigator helps each women manage the multiple appointments, navigate the medical system and receive the appropriate support and education. It takes a potentially overwhelming process and makes it integrated and manageable.