I am often asked in the breast cancer clinic by my patients: "Should I have genetic testing for Breast Cancer? or What is the risk of breast cancer for my daughters?"
My usual answer was that the breast cancer is common, around 1 in 9 women will develop breast cancer during her lifetime. Let's talk about your family history. Do you have any family history of breast cancer? If yes, then I used to ask which family members and their age. Any family history of Ovarian or prostate cancer? Who and what age? I would then refer women to genetic services if family history or young age suggested that there may be an increased risk.
But now The American Society of Breast Surgeons has updated its guidelines for genetic testing. This guideline recommends that all women with newly diagnosed breast cancer are tested for BRCA1, BRCA2 and and PALB2 mutations (and other genes as appropriate based on clinical scenario and family history).
What does this mean and should we in New Zealand also change the genetic testing guideline?
Approximately 10% or all cancers are due to inherited genetic mutations. This number is likely to be underestimate and if we tested all newly diagnosed women, we may find that this risk increases or decreases. We definitely do not know the risk in New Zealand, especially in minority populations.
BRCA1 and BRCA2 mutations are most common mutations that are associated with increased risk of developing breast cancer. There are also other genes that increase the risk like PALB2, CHEK2, PTEN, ATM, TP53, CDH1, NBN, NF1, STK11 etc, but the risk in these mutations is not as high as in BRCA mutations.
In the first instance we have to talk to patients whether they want genetic testing and what impact the results of testing may have on them or their offspring and relatives. Patients need to be told what the possible outcomes of the genetic testing is and what does that mean for them.
Results that are positive - will need management recommendations plan for that mutation. This may involve plan from different surveillance tests for different conditions within that genetic syndrome, possible chemoprevention (if exists) and risk reducing surgery. You can find more on the NCCN guidelines on Detection, Prevention and Risk Reduction.
Variants of unknown significance (VUS) result - this means that the test is inconclusive. Test has discovered a mutation within the gene, but at this stage we do not know whether this mutation is carries an increased risk of developing a cancer. With time we will know more whether this mutation carries increased risk, but often this takes anywhere between 5-10years (commonly) or even longer.
Negative results but family history suggests possibility of genetic predisposition - we should follow these patients according to their risk, rather than the presence of negative test. This may mean that these patients have a genetic predisposition in a gene that so far is not know to have association with increased risk of breast cancer.
Negative results and family history does not suggests possibility of genetic predisposition - these patients have the same risk as normal population (1 in 9 women).
What is the cost of genetic testing in New Zealand vs USA?
Genetic testing depends on the type that you need to be performed. In NZ it's hard to get figures for this, but it's likely to be around $1500.00 to $2500.00 dollars per person.
It's hard to estimate or get the cost of breast cancer per person, especially in the public sector. In private it costs between $15,000 - to $25,000 just for surgery (and this is not including reconstruction). And then there are possible radiation therapy costs, chemotherapy costs, follow-up costs, any possible complication costs etc. What about other costs to a person going through this treatment - impact on family, time of work, psychosocial impact of breast cancer etc. The cost is impossible to calculate. Because it is difficult to calculate the cost, it's hard to calculate the cost of benefit (all the tests that are performed, all the stress that these people have every time they come for a clinic appointment, cost of risk reducing surgery etc). At this stage, private insurance companies will not pay for genetic testing either, this has to funded by a patient.
Should we update the guidelines? It's hard to say at the moment.
It would be great to have genetic information of all cases of breast cancer, especially in rates of mutations in minority groups. Without these it is impossible to say Yes or No. What is the impact of genetic testing on these people? What is the long-term cost to their family - like private insurance costs as well as the stress of knowing that you have a mutation and stress of knowing that you do not have mutation when your siblings or other relatives do?
My recommendations are that you talk to your specialist with regards to the risk. And if you are not able to have publicly funded test, and you wish to have one and pay for it, then just talk to your specialist to refer you to the genetic services to request genetic testing.
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Overtreatment of medical conditions has become the most talked about topic in medicine. Every medical specialty is looking at overtreatment and how to minimise it.
There are two main reasons why this is happening. First, if a patient is not going to benefit from treatment, then we as doctors are placing these patients under unnecessary risks of complications from the treatment. Secondly, we are wasting the resources that should be used for other treatments that patients would benefit from.
One part of overtreatment in breast cancer is looking at who might and who might not benefit from chemotherapy in the treatment of breast cancer. One such trial is TAILORx (Trial Assigning IndividuaLised Options for Treatment) which has shown that chemotherapy is not necessary for a majority of women with early breast cancer.
This trial included over 10,000 women who had hormone positive (oestrogen and/or progesterone positive), HER2 negative and lymph node-negative breast cancer. Their cancer tissue was tested with Oncotype DX genetic test. This test does not screen for inherited predisposition to cancer. It checks for accumulated genetic mutations profile of the woman's individual cancer.
Despite the diagnosis of early breast cancer, up to 30% of these women will develop recurrences within 10 years. Chemotherapy is recommended to reduce the risk of this relapse, but overall benefit is minimal (3-5%) of all women. All these women receive endocrine treatment consisting of Tamoxifen or Aromatise Inhibitor tablets.
Oncotype Dx test is used to predict the risk of recurrences. Women with a low score (0-10), have a low risk of recurrence (2%) and these women will not benefit from chemotherapy. Women with a high score (26 or higher), are at higher risk of recurrence and would benefit from having chemotherapy.
TAILORx has conclusively shown that women with the intermediate score (11-25) would not benefit from receiving chemotherapy.
This study allows us to make individualised treatment recommendations based on each woman's breast cancer profile.
Unfortunately, Oncotype Dx is not funded in New Zealand. It costs almost $5000.00 to have this test performed. I believe that individualised cancer treatment (based on the genetic profile of cancer) will be the standard of care in the next 5-10 years.
I hope that New Zealand will soon have this, or a similar test funded.
American Society of Clinical Oncology (ASCO) 2018. Presented June 3, 2018. Abstract LBA1
N Engl J Med. Published June 3, 2018. Abstract
The number of women having immediate or delayed breast reconstruction following mastectomy is increasing in New Zealand and Australia. Implants are commonly used for breast reconstruction, and their safety has been debated extensively since the 1960s.
Anaplastic Large-Cell Lymphoma in the Breast
Anaplastic large-cell lymphoma of the breast is extremely rare, only 1 in 3 million women without breast implants will develop it by the age of 75.
The first report of increased risk of anaplastic large cell lymphoma of the breast was published in 2008. A recent study performed by Dr de Boer and several other researchers from the Netherlands (JAMA Oncol in 2018) has confirmed this.
Dr de Boer et al. have looked at all women in the Netherlands who have developed anaplastic large-cell lymphoma of the breast and compared these patients to those with other types of breast lymphomas.
Presence of implants was only associated with an increased risk of anaplastic large-cell lymphoma, not other types of lymphomas. This risk is 421 times higher for women with implants in comparison to those without implants. But the absolute risk is still low. By the age of 75, only one of 6920 women with implants will develop this type of lymphoma.
Dr de Boer and her colleagues have also looked at specific types of implants that may be associated with increased risk. They have found out that macrotextured implants are associated with a more significant risk.
The cause why implants may lead to an increased risk of anaplastic large-cell lymphoma is not known. It is postulated that it may be due to an immune system response or an inflammatory reaction to implants.
It is not known whether the increased duration of presence of implants is associated with increased risk.
Having breast implants does increase the risk of developing a breast anaplastic large cell lymphoma. This risk is still small, only 1 in 7000 women with implants will develop it.
If you are considering having implant-based reconstruction, please discuss with your plastic or breast surgeon type of implants used and their risk of developing this type of lymphoma, as well as any other complications.
I have often been asked by patients if they are a candidate for breast conservation surgery or should they have a mastectomy. So is there a right answer?
Both you as a patient and your surgeon have a say in this decision, but ultimately the choice is yours.
The breast surgeon will decide whether it is possible to perform the breast conserving surgery or if the mastectomy is required. How do we as surgeons do this?
This decision will depend on the amount of breast tissue that will need to be removed and in which part of the breast the cancer is vs the amount of breast tissue (size of the breast) that the woman has.
When we are talking about the outside half of the breast (towards the armpit), we can remove up to 20% of breast tissue. In the middle half of the breast, you can only remove 15% of the whole breast tissue. This is, so we prevent deformity of the breast following surgery and likely radiation afterwards.
As surgeons, we aim to remove cancer or the calcifications (usually DCIS) and 1 cm of normal breast tissue around a tumour. So if a tumour is 1 cm in diameter, approximately 3 cm in diameter of breast tissue will be removed. If a tumour is 3 cm in diameter, then 5 cm in diameter of breast tissue will be removed.
After the cancer is removed, the breast tissue around the cavity is moved to fill in the cavity. If tissue from a different part of the body is used - this is called a flap.
So please talk to your surgeon whether or not she or he is able to perform breast conserving surgery.
Your surgeon will let you know if she or he can technically perform breast conserving surgery. If this is possible, then it's your decision whether or not you would like to have breast conserving surgery.
The risk of cancer coming back over time in the same breast is similar whether you have a mastectomy (removal of the whole breast) or breast conserving surgery followed by radiation. The risks associated with mastectomy and breast conserving surgery are similar (apart from the risk of positive margins) and not very high at all. But do discuss these risks with your surgeon, as these do differ between different surgeons. If you do have breast reconstruction at the same time as mastectomy, then the surgical risks are much higher.
In women with low risk of breast cancer (general population), there is no need to remove other breast to prevent cancer on that side. The risk of cancer in the other breast causing risks to your life is less than 1%. The risks of surgery are higher.
You and your surgeon need to have a discussion whether the breast conserving surgery is technically possible. Risks of both surgeries, as well as recurrence, need to discuss so you can make an informed decision with regards to the operation. In the end, it's your decision which surgery you will have.
Please do not rush with this decision, take your time. Short delays do not have any impact on your survival, but making a decision that you are not happy with will have an impact on you forever.
I am Breast, Endocrine and General Surgeon.
Wakefield Specialist Medical Centre
99 Rintoul St, Newtown
Waikanae Specialist Centre
Boulcott Specialist Centre
666 High Street, Boulcott