Issue 08 | August 2017
Strand Gene Word
What can you buy with Rs.20.000-Peace of Mind?
In the News
Breast cancer may kill 76,000 Indian women a year bt 2020
Liquid Biopsies find distinct genomic profiles in most patients with carcinoma of unknown primary
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Hereditary Cancer – Expect the unexpected!
Genetics is a complex subject that for the vast majority of us will always remain a closed book. Here at myStrand HQ, we hope to shed a little light on the subject with our stories and hope you enjoy reading them! However, for those who specialize in genetics and use it for improving the health of thousands of lives, the quirks of genes and their effects on our health are a constant source of surprises and new, almost never-ending learning. And with every genetic test performed, we’ve gained another insight into the wonder of human biology, hereditary cancer testing included, and learned once more that in nature we need to expect the unexpected! Watch Strand’s Chairman and Managing Director, Vijay Chandru speak about why in cancer genetics we should think of “zebras not horses” when hearing the sound of hoof beats at a TEDx talk earlier this year to know more.
And if you’re one of the people who are still sitting on the fence unable to decide whether you should take a genetic test for hereditary cancer risk or not, why not take a look at our Knowledge Bite and second article in this issue.
Thank you for your continued interest. Feel free to write to us with any questions about genetic testing or counselling or suggestions for topics that you would like to see covered in myStrand. You can reach us at firstname.lastname@example.org or through any of the communication channels of our #StayAheadOfCancer campaign.
The myStrand team!
Breast cancer from an unexpected source
When breast cancer is diagnosed, there are often many questions as to what would have brought such misfortune on oneself. Is there something the patient could have done differently? Did anyone in the family have breast cancer, the mother, grandmother, one of mum’s aunts, perhaps? Most of the time, the answer to those questions will be ‘NO’. We all have a risk of getting cancer, and women in particular have a lifetime risk of getting breast cancer of up to 12% regardless of any external factors. However, what if we were looking for the culprit in the wrong place? – This is the story of a still often overlooked source of inherited breast cancer – the history of cancers on the father’s side of the family.
A tale of two sisters…
Chandana (not her real name) was 53 when she started feeling pain in one of her breasts. A few months later, the pain became unbearable and recalling that her sister had suffered from bilateral breast cancer around the same age, in the first breast 10 and the second breast 5 years earlier, she sought the medical opinion of an oncologist. When the cancer diagnosis was confirmed, the doctor also recommended genetic testing to see if an inherited mutation might be to blame for Chandana’s and her sister’s relatively early occurrence of breast cancer. We should note here, that genetic testing is actually recommended by international and Indian medical guidelines for breast cancer patients below or around 50 years of age.
… and a father and paternal aunt
Genetic counselling is an essential step that comes before genetic testing for hereditary cancer risk to help the patient understand the test and most importantly the consequences of the test result. In Chandana’s case, genetic counselling revealed that it wasn’t just her sister who had suffered from cancer. Her father had been diagnosed with prostate cancer a few years earlier and was still undergoing treatment, while a paternal aunt had been diagnosed with a type of intestinal cancer almost a decade ago. Interestingly, there were no cancers detected at all on the mother’s side of the family. According to common judgement, that would have ruled out any suspicion of hereditary cancer. However, for the trained genetic expert, like a genetic counsellor and more and more doctors who are slowly getting acquainted with the genetics of cancer, the cancer history of the sister and on the father’s side is sure to ring alarm bells.
BRCA2 was to blame
Sure enough, the genetic test revealed a known disease-causing (also known as ‘pathogenic’) mutation in one of the copies of Chandana’s BRCA2 gene. The presence of such a mutation puts her at an increased risk between 40-70% of suffering from breast cancer as well as an increased risk of 11-18% of suffering ovarian cancer. The hereditary nature of her cancer also means she is more likely to suffer from cancer recurrence in the same or second breast in the future.
However, BRCA2 mutations can also cause other types of cancer, as was most probably the case in Chandana’s father’s and paternal aunt’s case. Now that the BRCA2 mutation has been identified, Chandana’s immediate family and paternal cousin’s have the opportunity to get tested for the mutation and stay ahead of cancer. This process of testing family members is called Mutation-Specific Testing (MST) and is routinely offered to family members of affected patients to rule out or confirm hereditary cancer risk.
Don’t leave it up to Mother Fortune
In Chandana’s case, her sister’s doctor should have seen the signs and encouraged the family to get tested for hereditary cancer. It could have warned her family of their increased risk and preventive action, including surgery could have been prescribed. It is important to remember that regardless of whether the carrier of a BRCA mutation is the father or the mother, their children have a 50% chance of inheriting that mutation. The sneaky thing with a father carrying the mutation is of course, that while his risk of breast cancer is also increased, he is very unlikely to suffer from it, but is also at a higher risk of getting other types of cancer, like prostate and pancreatic cancer, for example.
If you recognize your or your family’s plight in this narrative, please do not leave your health up to Mother Fortune’s whims. A genetic test, performed on a blood or saliva sample, can rule out an increased cancer risk and give you or a family member peace of mind. And what about a positive result? Well, our genetic counselors will guide you through this journey and will make sure you know all your preventive options so breast cancer will hopefully be nothing more than a bump on the road. Call us on 1-800-1022-695 (toll-free in India) to make an appointment for a free consultation.
Disclaimer: The information provided in this article is in no way intended to replace expert medical advice. Always discuss the best possible course of action for your situation with your doctor.
n a survey of a cohort of over 300 people (predominantly women) that had taken a genetic test to determine their hereditary cancer risk (40% did not have a family history of cancer), an overwhelming 87% of respondents answered that they never regret knowing their test result three months after receiving the report (Kurian, AW et. al., 2016). The study is ongoing and is targeting a cohort of 2,000 people and follow-ups until 12 months after receiving the report, but the preliminary results have shown that cancer- and genetic testing-related distress were low before testing and remained low three months after test results were known.
What do your genes foretell?
Let’s face it, we live in a country where looking into the future is more than just day-dreaming with offers abound to read ones fortunes by the stars, numerology, or a good look at the palms of your hands. And let’s also be honest – quite a few of us believe in what the stars have in store for us and plan our lives accordingly, like when or who to marry. These are big decisions, and getting a little help from a friend or the stars can’t hurt! In recent years, a new kind of fortune-telling has come onto the scene, backed by science and certainly holding the promise of giving us a better glimpse of what our future holds – at least from a point of view of our future health. Enter – genetic testing.
What a lifestyle genetic test will tell you
Now, there are genetic tests abound, for susceptibility to certain types of food, like caffeine, or whether you’re going to be an athlete or not, or to tell you whether you are likely to get diabetes or Alzheimer’s later in life. However, the results are not for the faint-hearted. You’ll have to be fairly sound with your math, or probabilities to be more exact, to understand what it means that your risk is 10% higher than the average person’s risk to suffer from diabetes, for example. To make matters worse, they often don’t include a consultation to discuss the results and what you should do with them, hence the phrase ‘lifestyle genetic testing’. Oh yes, and you don’t need a prescription for them either. However, if the test results spur you on to lead a better life, eat healthy, and exercise, or follow other medically sound advice on how to prevent a certain diagnosis, you’re a winner!
What a hereditary cancer genetic test will tell you
With the exception of very few conditions, where a genetic mutation means you will definitely suffer from a certain condition, a genetic test cannot say with 100% certainty that you will or will not suffer from diabetes, Alzheimer’s disease, or cancer for that matter. However, the difference with testing for hereditary cancer is that science has scoured the genome, is continuously uncovering the resultant cancer biology, and follows as many patients as possible to get actionable information for the benefit of carriers of such hereditary mutations, and that includes people already suffering from cancer as well as those who take the test preemptively, before a cancer diagnosis. This means that today, there are clear guidelines for doctors and patients on how to screen for or even prevent a future occurrence of certain cancers. That is also the reason why more and more doctors have started prescribing such tests for their patients and recommending them for their family members to confirm or rule out increased cancer risk.
To test or not to test – that is the question!
So why do so many people still choose not to test for inherited mutations that are known to increase one’s risk of suffering certain types of cancer, including breast and ovarian cancer? Is it that we are more comfortable with the vague, with the chance that actually, fate has not chosen us? Humans are generally known to be curious creatures, seeking knowledge at every turn with an insatiable hunger for uncovering earth’s and the universe’s secrets. Yet, closer to home, when it comes to our families’ or our own health, we seem to be more cautious or not interested at all. Recent research in Europe uncovered that, when faced with the prospect of learning about future negative events in our lives, 85-90% of the 2000 people asked would not want to know. Interestingly, even if the news was going to be positive, a whopping 40-70% would prefer not to know. Only a measly 1% was eager to know either way.
Where do you stand?
Well, as far as genetic testing for hereditary cancer is concerned, your humble author counts herself among the measly 1%. You see, genetic testing for hereditary cancer, in a way, is a little hybrid, potentially harbouring both positive and negative news. Knowing that my grandmother and maternal aunt had succumbed to an aggressive kind of breast cancer in their 40s, I wanted to be sure I was prepared and took advantage of all the preventive and screening options available today in case there was a hereditary risk. And if the test was negative, be reassured that I and my daughter are only at the average risk of getting breast cancer and follow routine screening recommendations.
So, which side are you on? – To test – or not to test?– We’d like to hear from you why you got tested or why you chose not to. Your answers are sure to help others take a decision for themselves. Write to us at email@example.com!
I choose to Stay Ahead Of Cancer
Genetic Testing for Hereditary Cancer can give you peace of mind when unsure about your own cancer risk – especially when you have seen several, or sometimes even just one case of cancer in your immediate family. The result, positive or negative, will allow you to plan for your health and take the necessary screening and preventive steps to maintain a healthy life!
So will you choose to Stay Ahead Of Cancer? Call 1-800-1022-695 or visit www.strandls.com/stayaheadofcancer to make an appointment for a free genetic counselling session to learn more about your personal hereditary cancer risk and whether you should take the test! Watch now!