Episode 4 – Genetic Testing with patients Lucy Spano and Carolyn O’Halloran

Wendy Squires (00:10):

Welcome. My name is Wendy Squires and I’ve been a journalist for more than 30 years, specializing in women’s health issues, which is why I have the great honor of introducing highly respected breast doctor and surgeon, Dr. Nicole Yap. She’s an expert in ONCA plasty, which involves removing cancers with pleasing asserted results for patients. Training in both plastic and general surgery, Dr. Yaps’ breast techniques were refined whilst working at the European Institute of Oncology in Milan at the Royal College of Surgeons in London and working with world renowned experts in Paris and Leon.

Wendy Squires (00:45):

Amongst her many accolades Dr. Yap is the former Deputy Chair of the Royal Australasian College of Surgeons and it’s representative on the Cancer Council, Victoria Medical and Scientific Committee. She’s also Pink Hope expert advisor and vice president of the Medico-legal Society of Victoria. Today, Dr. Yap and I are joined by two of her patients, Lucy Spano and Carolyn Halloran. Thank you for coming in ladies. We’re going to be talking about an interesting field that I didn’t know very much about, which is genetic testing. Can you tell us about genetic testing? What is it and how does it help in predicting chances of breast cancer?

Dr Nicole Yap (01:23):

So, genetic testing is very useful in working out one’s risk of developing breast cancer in your lifetime. And also with some of the forms of genetic testing, we can also work out their risk in the next five years. So commonly, as you might have heard, and Angelina Jolie made this really sexy is to get yourself tested. If you’ve got a very strong family history of breast and or ovarian cancer, or your Ashkenazi Jewish descent, or there’s a history of male breast cancer in the family…

Wendy Squires (01:57):

So this is the BRCA gene?

Dr Nicole Yap (01:58):

Yes, yes. And there’s, the BRCA gene is actually a breast suppressor, breast cancer suppressor gene. So if it is damaged ie mutated, then it can stop the suppression of breast cancer. And you’re more easily going to get the breast cancer. Also, unfortunately with the BRCA gene, you are more easily going to get ovarian cancer.

Dr Nicole Yap (02:22):

And especially with the BRCA type one, a genetic mutation, which is on chromosome 17, you’re more likely to develop an ovarian cancer. And we all know ovarian cancer kills because a very difficult to work out if you’ve got ovarian cancer at the early stages when it’s treatable. So this is one of the two genetic mutations that we know of, but as time has gone by, we’ve worked out that there are other genetic mutations, which affords you a higher risk of developing a breast cancer. And so in Australia we’ve chosen to get a panel of 11 genes so far, which we will test for that’s commercially available.

Dr Nicole Yap (03:02):

And these cause breast cancer and most common types of genetic mutations plus some of which are cause more aggressive type ie triple negative disease, which means that your cancer does not respond to anti hormone treatments such as anti estrogen or antiher2. So these sorts of situations are really important to know about because then patients that have got these mutations can then seek help to try and prevent themselves from getting a breast cancer and succumbing to it in the future.

Wendy Squires (03:42):

And such as our lovely ladies here today. Lucy tell me about your journey to Dr. Yap. How did that all come about?

Lucy  (03:49):

My mum had breast cancer at 57 and her sister had breast cancer at about 39 and they both passed. So I went to see Dr. Yap to see where I stand with the whole.

Wendy Squires (04:07):

chances of getting it,

Lucy  (04:08):

Yeah, chances of getting it. Yeah.

Wendy Squires (04:09):

And where was Lucy?

Dr Nicole Yap (04:12):

Well, we did the genetic mutation tests and that are available, which is a blood test. And she was negative for all the mutations that we can test for but that doesn’t mean that she doesn’t have a mutation. So you sort of have to say, well, most of these mutations, if one family member has the mutation, either the mother or the father, then all the children or offspring each have a 50% chance of getting that mutation. So we don’t know whether there is another sort of mutation that we couldn’t test for that Lucy may or may not have because she’s only got 50% chance. So there was another form of testing, which is a DNA cheek swab test, which looks at groups of genes. And if you have a certain amount of these groups of genes called snips, S N P, then you are at a higher risk of developing a breast cancer. And I thought maybe that might help with our management of Lucy and I didn’t have to see her every six months.

Wendy Squires (05:17):

This is a relatively new test that’s come to Australia isn’t it? The cheek swab?

Dr Nicole Yap (05:21):

In Australia? It’s new.

Wendy Squires (05:23):

Yes. Yes. And what did you find?

Dr Nicole Yap (05:25):

Well, it shows you whether you’re low, moderate or high, and Lucy was high, higher risk for developing breast cancer in the next five years.

Wendy Squires (05:38):

So what was the advice Lucy and what did you decide?

Lucy  (05:42):

Well, I decided to have a double mastectomy… Hang on.

Wendy Squires (05:49):

It’s okay.

Lucy  (05:54):

And I’ve had also implants and that was done about eight weeks ago. I just decided to be proactive rather than waiting for something to happen. I’d rather just do it.

Dr Nicole Yap (06:04):

Yes.

Lucy  (06:05):

Yeah.

Wendy Squires (06:05):

A very understandable, but a very brave decision as well. So good on you. And how are you feeling about your breasts now and?

Lucy  (06:12):

Good.

Wendy Squires (06:12):

And your decision?

Lucy  (06:13):

Good. I’m glad I’ve done it. It doesn’t, it’s not a long recovery, it’s been eight weeks and I’m fine. So that’s really good.

Wendy Squires (06:23):

It must be incredibly a relief for you mentally.

Lucy  (06:26):

Yes.

Wendy Squires (06:27):

Knowing that, because that would be a lingering fight, I think, to live with that.

Lucy  (06:33):

Well it was, I couldn’t live with myself if something happened in six months time, if I was diagnosed with breast cancer and I had the opportunity to do something about it and I didn’t, so that was my whole reasoning for doing it, really, yeah.

Wendy Squires (06:51):

I’m very happy to hear that you’re happy and healthy.

Dr Nicole Yap (06:53):

We test for the cancer afterwards. I check all the pathology and it was all cancer-free, which is fabulous.

Wendy Squires (07:01):

Oh, isn’t that interesting? Isn’t that great, you can actually test it as and after. Caroline, you had a interesting journey to get to Dr. Yap as well because of a friend of yours was diagnosed.

Caroline (07:13):

Well she’s yeah, she’s a close friend that I’ve worked with many times and she’s actually god mother to our youngest son so I’ve known her for a long time. And she’s seeing Nicole as a patient over five years ago now. And she put on social media a opportunity to be able to have the genetic testing done and not having to be in Melbourne after many months of not being in Melbourne from COVID and decided I may as well. It’s always nice to know what risk is and came and had it done and was surprised. I had no family history and surprised to find out that I was at moderate risk, which was really interesting finding that out. Nicole said to me, “I want you to have a full mammogram”, which I was nearly due to have and an ultrasound done and came back that I was actually had a tumor, was found very early and very lucky.

Wendy Squires (08:10):

You are very lucky. That sounds strange to say someone’s lucky that’s just had a cancer found.

Caroline (08:16):

Yeah, I know, very lucky.

Wendy Squires (08:17):

Wow. So

Caroline (08:17):

Yeah, surgery and no reduction and yeah, four weeks off work and I’ve had 15 rounds of radiation as well. I’m very fortunate that it didn’t go to the lymph node involvement under the arms as well, which was, I didn’t know until I was actually yeah, after theater that Nicole said it was good.

Wendy Squires (08:34):

So no chemo.

Caroline (08:35):

Yeah, not only needed to be eight millimeters bigger and I would’ve needed chemo. So yeah. Very, very, very lucky. Yes.

Wendy Squires (08:43):

So you said that you also had a reduction at the same time, so you’ve actually got the breasts that you sort of wanted as a result of having a breast that you didn’t want.

Caroline (08:52):

Yeah. Well, exactly, Nicole explained that once I’d had radiation, because the tumor was up very high and there was no way anybody could feel it even upon checking. So she explained that after radiation, there could be quite a defect and she said, “This is what I can offer for you. If you want to have the reduction done then”, because I’ve always suffered with large breasts and back pain and neck pain and as you get older, pain gets worse. So yeah, I seized the opportunity and said, I think that would be the best outcome and Nicole agreed that would be something that would be a bonus. So that’s what we did. And I was very quick to recover. I wanted to go back to working two weeks after surgery and she said, “No, no, no, you’re having four weeks off”. So

Wendy Squires (09:44):

Four weeks off is nice. So can I ask you what size you went from and what size you’ve had done.

Caroline (09:48):

Double D to about a B now, I think yeah.

Wendy Squires (09:51):

Oh lovely because has it helped with the neck pain, the back pain?

Caroline (09:53):

Yes, it has straightaway. I could feel the difference. Yes.

Wendy Squires (09:57):

So this is an incredible tool. What would you like to say to women out there that have a history or don’t know if they have a history of breast cancer in their family? Are these tools simple? Is it simple to get? Is it cheap? What do women do?

Dr Nicole Yap (10:15):

Well, if you have number one, a strong family history, I think and when I say strong family history, I mean first or second degree relatives. Generally, if at least one of them is less than 50 years of age and, or as I mentioned before, a male in the family with breast cancer or your Eastern European descent, because it tends, these mutations tend to be in those groups. Then it would be a very good idea to get the blood tests where you look for the true mutation of a gene, but having done that, just bear in mind one thing is if it’s negative, it doesn’t necessarily mean you don’t have a mutation for some gene that we haven’t tested for. And secondly, it’s also very good to know, depending on your age, that there’s no discriminatory things because there’s laws against discrimination for people that are getting tested for genetic mutations and come back as positive apart from your income protection.

Dr Nicole Yap (11:23):

So if you haven’t got income protection and you then test positive for the gene, you will not be able to get income protection. However, if you already have the income protection, they can’t take it away from you. So that’s the first thing. The second type of genetic mutation, which is looking at your DNA, which is looking at groups of genes that are grouped together, is just a simple cheek swab and that’s relatively cheap compared to the genetic mutation, but everything’s coming down in price as we talk because more and more companies are getting out there providing this sort of service. So as you go along, you’ll find that the costs will decrease with time. It’s just like technology as it improves, costs of televisions go down. So the same thing with genetic testing.

Wendy Squires (12:11):

I’m sure you ladies will agree that it is worth for whatever the cost.

Lucy  (12:16):

Yes, it is. Definitely.

Wendy Squires (12:18):

Well, thank you for coming in today and sharing your stories and Dr. Yap I’ll see you next time.

Dr Nicole Yap (12:22):

Definitely.