A Tale of Two Genes

Anna Jones[*] was in her early teens when her mother died of ovarian cancer at 44.  It was a particularly difficult time for her and her family, since her grandmother died of the same type of cancer when she was young. So did her aunt.

Now sitting at her doctor’s office on a cold winter morning, she wondered what her ultrasound had shown.  She could still remember her mother’s long chemotherapy days.  She could remember those days at the hospital after her surgery.

Was it the grim look on her doctor’s face?  Or the concerned expression of the nurse?  It could only mean bad news.  He said something about more testing and possibly surgery.  Two weeks later she was on the operating table about to fall asleep under anesthesia.  When she woke up her family was there –all her loved ones in the room.  Finally she found out:  She had been diagnosed with stage III ovarian cancer.

In the midst of all the bad news, her doctor mentioned something about genetic testing to see if her two daughters, now in their early twenties, had an increased risk of ovarian or breast cancer.  Anna knew she would give anything to make sure her daughters never went through something like this themselves and could get cancer treatment early if needed.  She decided to get the genetic testing done.

Anna’s story is not rare.  According to the National Cancer Institute, there were 21,880 new cases of ovarian cancer diagnosed in 2010, making it the second most common gynecologic cancer.  However, 13,850 people died from it, making it the most frequent cause of gynecologic cancer-related death.

Its high mortality is related to vague, insidious and often late symptoms, and by the time a diagnosis is made, very often it has already spread to other parts of the body and therefore treatment is less likely to be successful.

A woman’s risk of developing breast or ovarian cancer is increased if she inherits abnormal copies of genes known as BRCA1 and BRCA2.  Genetic testing is recommended if there is a strong family history of these types of cancer.  It is done in an office and is easy to do.  It doesn’t even involve needles!  A sample from the mouth is collected and sent to a laboratory – with a result usually in two weeks.

Further care management is aimed at preventing cancer from occurring and is tailored to each specific individual with options that may include medications and/or surgery.

Results can, and should, be shared with family members.  Armed with this information, individuals can participate in screenings to help with early detection – the key to increased survival rates. The beauty of genetic. screening is that what used to be considered an almost certain death sentence can now in some cases be prevented.