Understanding cancer risk and genetics

Digital illustration DNA structure in colour background

October is Breast Cancer Awareness month and we at OPTIPHI® believe that the best way to reduce the number of breast cancer sufferers is through educating and creating awareness about how to do regular self-checks. Armed with the correct information, women can save their lives through early detection, and where possible, prevention.

Getting to the heart of the problem

Scientists and doctors have been searching for links between many factors that may cause cancer from diet to carcinogenic materials in the hope of reducing the number of women diagnosed. While many things have been linked, it’s hard to say conclusively that there is one exact cause; one area that has sparked interest is the genetic link.

Angelina Jolie made world headlines after her decision to undergo a preventative double mastectomy after a simple blood test had revealed that she carried a mutation in the BRCA1 gene. This mutation meant that she had an estimated 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer. This sparked much debate among women around the world. If you are one of them then here are the facts:


What are BRCA1 and BRCA2?

Most people who develop breast cancer have no family history of the disease; however, if one has a family history of breast cancer or ovarian cancer then one’s genes could have played a role in the cancer’s development.

Most inherited cases of breast cancer are associated with two abnormal genes: BRCA1 (BReast CAncer gene 1) or BRCA2 (BReast CAncer gene 2). Women who inherit a mutation in either of these genes have a higher risk of developing breast cancer and ovarian cancer. These mutations can be inherited from their mother or their father. Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts.

What do the stats show?

According to the National Cancer Institute, women with an abnormal BRCA1 or BRCA2 gene have about a 60% risk of being diagnosed with breast cancer during their lifetimes (compared to 12-13% for women overall). These women’s risk of ovarian cancer is also increased.

How are tests carried out?

Since mutations are quite rare, many doctors only suggest testing if there is a specific family history. To carry out the test, a blood sample is sent to a laboratory for DNA analysis.

Who should get tested?

Any women with family members with breast, ovarian, fallopian tube or peritoneal cancer should be evaluated to see if their family history is associated with an increased risk of a harmful mutation in one of these genes.

What if you get a positive result?

According to Marisa Weiss, M.D., president and founder, “Simply having a proven gene abnormality does not necessarily mean that a woman will develop breast cancer, or that her cancer will be any worse than cancer that does not stem from an inherited genetic flaw.”


Know the facts and discuss your concerns with your doctor

There is no substitute for regular breast self-exams and clinical breast exams are critical to minimize breast cancer risk. Visit for more information or to find the nearest CANSA Care Centre.

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