Assessing Cancer Risk with Genetic Testing

A cancer diagnosis can be a frightful and devastating experience. According to the National Cancer Institute, 1,685,210 new cases of cancer were diagnosed in the U.S. in 2016, with the five most common being breast, lung, prostate, colon and rectum, and bladder. Additionally, melanoma, endometrial and pancreatic cancer are ranked in the top 15 of new cancer cases.

       The U.S. Cancer Statistics Working Group states the most common cancer among women of all races, and the second-leading cause of cancer deaths in women, is breast cancer. Lung and colorectal cancer come in as the most common cancers in women and contribute to the leading causes of deaths among women.

Genetics and Cancer

Cancer itself is a harmful mutation, or change, in the DNA. All cells continually change, and if the change causes a mistake, the body typically repairs itself. But with cancer, the mutation continues without repair and is harmful to cell growth. Most cancers are random and develop more frequently with age, but up to 10 percent of cancers are inherited, and increase a person’s chance of not only getting cancer, but developing it earlier in life. Biological family members are those that matter when looking at our inherited genetic family history.

       Knowing if we carry an inherited mutation can provide us and our healthcare provider assistance in making better and more informed decisions about future screenings for early cancer detection and treatment options if cancer were to be detected.


In 1994, the first BRCA1, or breast cancer gene, was discovered, and the second, BRCA2, in 1995. BRCA genes are inherited mutations that increase a woman’s risk of breast and ovarian cancer. Both of these cancers, when associated with BRCA mutations, tend to occur earlier in a woman’s life. The BRCA gene can be inherited from either the mother or father, and this is why screening questionnaires look at both sides of a family. It is estimated that 55 to 65 percent of women that inherit a BRCA mutation will develop breast cancer by the age of 70, and up to 39 percent will develop ovarian cancer by age 70. Having a BRCA mutation can also lead to an increased risk of having other cancers, such as peritoneal and cancer in the fallopian tubes.

       The BRCA gene is not specific to women. Men with family risk factors should also be advised that having the BRCA gene increases a man’s risk for not only breast cancer, but prostate and pancreatic cancers. Additionally, families of Ashkenazi Jewish descent have a higher prevalence of BRCA mutations than other people in the U.S.

Genetic Testing

In 2013, the U.S. Preventive Services Task Force recommended women that have family members with breast, ovarian, fallopian tube or peritoneal cancer be evaluated to see if they have a family history that is associated with an increased risk of a harmful mutation in one of these genes. After meeting specific criteria for family cancer screening questions, genetic testing is available in the forms of a simple blood or saliva test. It is imperative to use a reputable and established genetic testing laboratory for genetic testing.

       Perhaps the gold standard in genetic screening, Myriad ( has developed one of the most comprehensive programs for testing both women and their male relatives for hereditary cancer risk. The company has more than 25 years of experience, as well as 99.98 percent accuracy in tests results. Myriad is a dedicated and committed company with the latest in pioneering research and development of innovative molecular diagnostic tests. Their myRisk Hereditary cancer test is a 28-gene panel that screens not only for the BRCA gene, but includes a variety of other genetic mutations which are associated with breast and ovarian cancers, as well as colon, endometrial, lung, melanoma, pancreatic and  prostate cancers, and rheumatoid arthritis.

Leta M. Vaughan, DNP, CNM, is a nurse practitioner with WomancarePC, which offers the Myriad myRisk Hereditary cancer test, as well as other screenings. For an appointment, call 847-221-4800 or visit For more information about BRCA, visit


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