Regardless of Genes, Early Detection is Your Most Important Tool for Beating Breast Cancer rparthemer September 28, 2017 at 3:20 pm

Rose Czap
Rose Czap, CRNP
Breast Health Center
UPMC Susquehanna

Genetic testing to discover ancestry is becoming very popular. Discovering your family history can reveal unexpected connections, new storylines, and a world of new relatives. But, there’s another benefit for some specific types of genetic testing. The genes you inherit from your biological parents can help doctors determine your cancer risk, including your risk for breast and ovarian cancer. Does this mean you should have genetic testing for health reasons? Not necessarily.

Everyone has a unique genetic code that is a combination of genes from his or her parents. Mutations or

changes in certain genes can increase the likelihood that certain cells could become cancerous. Pancreas, thyroid, colon, bone, breast, ovarian, soft tissue, and melanoma are cancers that possibly can be linked with genetic mutations. Mutations of the BRCA1 and BRCA2 genes are specifically linked to breast and ovarian cancer. People with Ashkenazi Jewish ancestry have a higher incidence of having the BRCA gene mutation.

So where do you start? At age 18, women should begin talking to their family doctors about their breast and ovarian cancer risks. Important factors that could impact your risk include your age at menses, age at first childbirth, weight, lifestyle, and genetic or family history.

To ensure that you have an accurate family health history, ask your parents and grandparents to document any medical history of ovarian, breast, and other cancers in the family to help younger generations know who and at what age these were discovered. At a minimum, go back at least three generations from both sides of the family. A female family member who was diagnosed with ovarian cancer at any age could indicate presence of a gene mutation. A female family member diagnosed with breast cancer under the age of 45 could indicate the presence of a gene mutation, whereas a relative who developed breast cancer after menopause does not necessarily point to a genetic mutation even though this is still important to record.

While cervical, endometrial, and uterine cancers rarely indicate genetic mutations, these are also important conditions to note. Older family members who have survived ovarian or breast cancer while also meeting the criteria for genetic testing may consider having genetic testing to make other relatives and younger generations aware of whether or not a genetic mutation exists.

The findings from your family history help your doctor determine if you would benefit from genetic testing. The test is performed through a referral to a genetic counselor to review your family history, and the sample is taken with a simple mouth swab or blood sample.

It is extremely rare to carry the BRCA or BRCA2 mutations, and testing positive for it is not a guarantee that you will develop breast or ovarian cancer — it is, however, an indicator that you are at risk. Because ovarian cancer is “silent” and doesn’t produce any symptoms until it is well-advanced, eliminating risks for this condition is a priority. An effective option for women who are through childbearing years is removal of the ovaries and fallopian tubes, which reduces the risk for ovarian cancer by 90 percent, and for breast cancer by 50 percent.

Closely managed screenings for breast cancer, through yearly mammograms and breast MRIs, and use of certain medications can help reduce the risk of breast cancer for those who have the BRCA mutation. Some women opt for a preventive mastectomy, which reduces the risk of breast cancer by 95 percent.

The absence of BRCA mutations does not guarantee that you will not develop breast or ovarian cancer. In fact, these mutations are only responsible for five percent of all breast cancer cases. Proven ways to reduce your breast cancer risks include managing your weight, eating a diet that includes plenty of fruits and vegetables, regular exercise, limit alcohol, and not smoking.

No matter what your breast cancer risk is, early detection provides you with the best odds for beating cancer. Most doctors in the United States agree that beginning at age 40 (earlier if you do have a family history), women should have an annual mammogram to detect breast cancer at its earliest stages and when treatment can be the most effective.

Rose Czap is a Certified Registered Nurse Practitioner (CRNP) at the Breast Health Center at UPMC Susquehanna.

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