Genetic Risk



A rather lengthy synopsis in my genetic journey, in the hope it helps those who may be considering going down this route.

By ED

I was diagnosed with primary BC in 1996-had a mastectomy+chemo. I opted against reconstruction-it simply wasn’t for me-nor indeed were prostheses, which were quickly consigned to a drawer, rarely to see the light of day! I was at ease with my new shape, although longed to be “flat” as opposed to lopsided. My surgeon was initially sceptical, but supportive-I was in no hurry to undergo another mastectomy, but knew I would do so in the fullness of time.

In 2000, we moved from Scotland to Devon, due to hubby’s work-for several years I continued with annual check ups in Scotland, rather than find a new team here-I was keeping well, with only bowel problems with which to contend, and for which I was seeing a gastroenterologist here. However gynaecological problems set in, and the consultant wondered if I had considered genetic testing, in view of my family history.

At this point, I should give you some further background information. I had seemed to spend my life seeing members of my family (from both branches), die from one form or another of cancer, so when I was diagnosed, in truth I was not hugely surprised. To simplify things, I’ll merely give you the family tree as far back as my Mum’s generation. She had 4 brothers. 2 of them died from heart failure-one had no children, one had 2 , but this branch of the family escaped the gene misprint. We have therefore to concentrate on Mum and her 2 other brothers, all of whom had the misprint-as it’s been passed on to the succeeding generation-myself and my cousins.

1) Mum had BC at 47, and died 3 years later, on her 50th birthday, after a spread to her bowel. I have the gene misprint (BRCA2). My younger brother has declined to be tested (his wife can’t have children, so the urgency to be tested isn’t so strong). He is however, very health conscious, and I’ve instructed him well as to what to look out for! Our daughter was tested at age 21 several years ago, and found to have the gene misprint. Our son is planning on taking the test in the near future.

2) Mum’s elder brother “T”, passed the gene on to his daughter and 2 of his sons. The third son still has to decide whether to take the test. From there, one cousin has passed it on to her daughter (son awaiting results), another to 2 of his daughters, the third has children too young to be tested.

3)Mum’s younger brother “R”, passed it on to one of his 2 daughters.

So, already we have a cluster of people affected, and I’m so glad that I decided to go down this path The process itself is very emotional-and more than a little scary. I thought long and hard about whether I should do this, but without exception, all family members have been supportive, and are glad that they too have been tested.

Initially I had 2 meetings with a genetic consultant, when we spoke at length about the pros and cons. At the third meeting she took the blood sample, and several months later received the result, which in truth we had been expecting. By this stage I had undergone a hysterectomy, and taken the plunge to have the second mastectomy so all prophylactic surgery had been done prior to the testing, for reasons other than the likelihood of recurrence!

Several years went by, again keeping relatively well, but with the gastroenterologist opting to give me annual colonoscopies, as the link between bowel/breast was as yet uncertain. And thank goodness he did ,as it was he who discovered the recurrence in Nov 2007. For some strange (but very fortuitous) reason, I mentioned to him that I had a slight itch under my left ribs-and he immediately sent me for a CT scan. I genuinely thought he was over-reacting, and both of us were amazed when it returned showing mets to the pleura(and subsequently liver and bones).

My main reason for opting to have the genetic test was to protect my children-as we can see, even having had the prophylactic surgery, I still went on to develop mets, which came as a huge blow. But the knowledge that my children will be monitored (in time, as daughter is 26 so routine mammos are not much use at this age), and have an excellent back up network, has made the entire process worthwhile. The others affected are at varying stages of having surgery.

Finally-for many months I tried to persuade my onc that the fact that I was BRCA2 was having some kind of negative impact on my lack of response to various therapies. He was initially sceptical, but I did some research, presented him with the aims of the PARP trials, and this is now the road we will be taking in the near future. At present, I’m on capacitabine and lapatinib, which so far has shown disappointing results-the next scan on the 19th will establish if we continue, or start me on the trials. I’ve had the go-ahead for this, and can begin at a time suited to me. BUT-it has to be our next option: the entrance criteria stipulates that the patient must have had less than 3 chemo agents, and as I’m now on the 2nd, it’s now or never!

So-even although the testing and surgery didn’t stop me developing mets, the diagnosis is actually contributing heavily to which drugs we use-yet another reason why having the test can be helpful.

Sorry to be so long winded, but it’s a complex (albeit fascinating ) field. Good luck to anyone able to have this test-I can think of plenty of reasons for doing so, but very few advantages to not having the test if you fall into the high risk category.