Testing Family Members for the BRCA Genes

The BRCA genes made world headlines in 2013 when Angelina Jolie underwent a double mastectomy to reduce her risk of developing breast cancer following a BRCA1 gene mutation diagnosis. Ms. Jolie had a strong family history of breast and ovarian cancer and knew she had an 87 percent risk of breast cancer, and a 50 percent risk of ovarian cancer. She went on to also have her ovaries and fallopian tubes removed.¹ Women are always mentioned when it comes to breast cancer, but in fact, the disease is genderless. Men need to understand the importance of their genetic heritage.

Men and breast cancer

Most men who develop breast cancer do not have a BRCA1 or BRCA2 gene mutation, or even a strong family history. But if they do inherit genetic mutations, they are at an increased risk of developing breast cancer.² They also have an increased chance of developing prostate and pancreatic cancers, along with melanoma. After being diagnosed with breast cancer six years ago, I was advised to be tested for the BRCA genes. The result showed a BRCA1 mutation, with a variation of unknown significance (VUS).

Men and prostate cancer

Two years later I was diagnosed with prostate cancer. This red flag prompted me to find out more about my VUS. After all, men are 50 percent of the genetic equation, and I wanted to know the risks facing my three brothers, and my daughter and son. My mother died of breast cancer, aged 41. A recent study showed that about 30 percent of men who get breast cancer go on to develop prostate cancer as a second primary.³

The BRCA dilemma

Mutations can be inherited from either parent and may be passed on to both sons and daughters. Each child of a genetic carrier, regardless of sex, has a 50 percent chance of inheriting the mutated gene from the parent who carries the mutation. As a result, half of the people with BRCA gene mutations are male, who could then pass the mutation on to their offspring, male or female.

Gender discrimination for public screening programs

Herein lay the problem for me. A mutation with a VUS is classed as an ambivalent result, and not one on which clinical decisions can be based.⁴ My genetic counselor advised me to ask my first-degree family members if they wished to take a genetic test. My brothers weren’t interested in being tested, so I made them aware of regular breast checks and PSA tests. My daughter, aged 47, is in a public screening program, which includes an annual MRI scan. However, my son, a few years younger, has no access to a public screening program and is on his own as far as checks go. This gender discrimination needs redressing.

Genetic knowledge is power

Be aware of your genes and your genetic predispositions, they are the basis of you and the key to a healthy life.⁵ If you are concerned that your family may have an inherited genetic mutation, or if there is a strong family history of cancers, you may like to speak with your general practioner, who can refer you to a family cancer clinic for assessment. Not everyone may agree, but I believe genetic knowledge is power.