Issue 02 | February 2017
Strand Gene Word
What causes cancer?Part 2- Inherited mutation
Strand Center at Pinkathon Bengalur 2017- Let’s go Pink Sisters!
In the News
Women with breast cancer miss out on recommended genetic testing
Strand expands cancer test portfolio in India
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Do you have a family history of cancer?
Welcome back to myStrand – Your Compass to Precision Care, your monthly magazine to keep you in touch with the latest developments in cancer research, diagnostics, and treatment available in India.
This month’s issue is all about why it is important to know whether you have a family history of cancer or not and how you can find out if you do have a significant family history that puts you at a higher risk of getting cancer. We have even put together a short questionnaire in our second article that will help you decide whether you should reach out to one of our genetic counsellors sooner rather than later to discuss your cancer risk.
One test to inform the lives of many
Let us talk about Suhana (not her real name), a 49-year-old woman who was diagnosed with breast cancer. Suhana was to undergo standard chemotherapy, but her oncologist also recommended that she speak to a genetic counsellor to look at her family history. She was referred to one of Strand Center’s genetic counsellors. In this session, the counsellor laid out a clear picture of Suhana’s family history of cancer across three generations on her mother’s side. As it turned out, Suhana had breast cancer, her sister suffered from fallopian tube cancer, a female cousin was recently diagnosed with ovarian cancer, her aunt had died of ovarian cancer, her uncle was suspected to have died of pancreatic cancer, and her grandfather had probably died of lung cancer.
Finding the culprit
Now, armed with this information the genetic counsellor suspected that this would be a case of a hereditary breast and ovarian cancer (HBOC) syndrome in the family. (The interesting fact is that although the syndrome is named only after breast and ovarian cancer, scientists and doctors know today that the same genes, which cause these cancers, also increase the risk for other cancer types in both men and women. The risk factor increases especially if the genes have undergone changes called mutations.) At Strand Center, we have developed several assays to identify these mutations. In Suhana’s case, the counsellor recommended genetic testing to her and her family, to confirm the suspicions raised by the family history. To read more about HBOC, you can visit our Strand Gene Word blog.
Using the Strand Hereditary Cancer Test, the patient’s DNA was tested for the presence of mutations in genes that can cause breast and ovarian cancer. The test is also designed to look for changes in genes named BRCA1 and BRCA2 (pronounced bra-ca). These two genes have been making quite a lot of headlines over the years and are actually named after the cancer they cause i.e. BReast CAncer. In Suhana’s case, the test identified a mutation in her BRCA1 gene that was known from the scientific and medical literature to significantly increase cancer risk.
For Suhana, the result meant that she was at a significant risk of the breast cancer recurring in the same breast as well as in the other breast and that she was also at an increased risk of suffering from ovarian cancer in future. Together with her doctor, she decided to undergo what’s known as a double-mastectomy (the surgical removal of both breasts) as well as a prophylactic salpingo-oophorectomy (the surgical removal of her ovaries and fallopian tubes) to further reduce her risk of suffering cancer in future. Today, she is a cancer survivor and has yearly check-ups to make sure she stays that way.
But what about the other members of her family? How did they benefit from this diagnosis? Well, the Suhana’s result didn’t just help her survive cancer and be vigilant in case of any recurring cancer. Her 70-year old mother was not tested because she remained unaffected by cancer and was therefore assumed to be just a carrier of the harmful mutation. However, the genetic counsellor recommended that the remaining family members should take the test to determine if they were carriers of the same cancer-causing mutation.
Informing an entire family of their cancer risk
Her sister and cousin sister already suffered from cancer, so a positive result would help them and their doctors make the appropriate treatment choices. And it did, at least in the case of the cousin sister suffering from ovarian cancer. Based on the positive test result, her doctor changed her treatment regimen to a new FDA-approved drug that is prescribed in cases of advanced ovarian cancer as maintenance therapy.
For the so far unaffected cousin sister and uncle, the test result would tell them if they should be participating in early screening measures and inform their children of the possible risk of having inherited the mutation. [We should point out that genetic testing for hereditary cancer is only performed for adults; the reason why the patient’s daughters, one of whom was still under-age, were not tested at the same time.] Luckily, they both tested negative for the harmful mutation affecting so many of their family members. Therefore they could rest assured that they were only at the much lower, average population risk of getting cancer and would not pass on any harmful mutations to their children.
Suhana’s story is a typical example of the kinds of family histories we encounter in our practice. If you suspect a family history in your family, do not hesitate to reach out to us, by replying to this email or on any of the other contact channels of the Stay Ahead of Cancer campaign. Know Your Risk!
The myStrand team!
What is Retinoblastoma?
What is genomics?
Genomics is the study of genomes. Genomics researchers look at the variation present in the genomes of a particular population, like humans. They also look at the impact specific variations have on the features and overall health of that population. One of the key applications of this information is healthcare, where the field has come to be known as Personalized Genomics. Finding out which variants are harmless and which variants have the potential to cause disease has fuelled researchers’ fervor to explore more and led to much ground-breaking interdisciplinary work between research and medicine. This research has not only identified mutations that cause disease but also helped researchers and pharmaceutical companies identify why some drugs work better in some patients but not in others even though they were diagnosed with the same disease.
How can I know whether I am at risk of hereditary cancer?
You’ve heard of cousins, aunts, uncles, grandparents diagnosed with cancer or having died from cancer. You felt the pang of the suffering and fear they and their immediate families must be going through. But just how many of them were affected? You didn’t count. You and your family were fine and that was what was important! Until the day your mother came back from a routine check-up with a cancer diagnosis. Could you have done something to prevent this? Was there a way to know she would be more prone to getting cancer than the average person? Are you yourself at risk, too?
Up to 10% of cancers are hereditary
Well, an established scientific fact is that up to 10% of cancer cases have a hereditary component. That means no matter how well you look after yourself in terms of healthy living and eating if you have inherited a bad copy of a gene that plays a role in cell renewal, you’re always at a greater risk of developing cancer. Two of the best-known genes with just such a role are BRCA1 and BRCA2, which almost always cause breast and ovarian cancer if a mutation in either of these genes is present. Now, we know about many more genes that cause cancer when mutated, thanks to scientific and medical research. Some gene mutations are responsible for specific cancer types, while others are involved in many different types of cancers, complicating the effect-and-cause scenario significantly. It requires experts in genetics and cancer to shed light on what causes a cancer and choosing the right treatment.
How can a genetic counsellor help? Is a genetic counsellor a patient’s friend?
Strand Life Sciences has a small army of people who are trained to understand the genetics of hereditary cancers. These are our genetic counsellors. Genetic counsellors are trained to understand a patient’s family history of illnesses, specifically cancers and draw up scientifically valid ‘pedigree charts’ (this is what a family tree is called in medical circles). This specialized training uniquely qualifies them to understand a person’s family history of a disease like cancer, sometimes as far back as three generations (yes, we’re talking grand-grandparents here). They are also skilled at interpreting this knowledge and can provide accurate predictions of the risks faced by a person who makes use of their services. Additionally, our genetic counsellors can explain the consequences of inheriting bad cancer genes to patients, family members as well as doctors. Yes, you read correctly, ‘and doctors’!! Unfortunately, it is true that until recently, genetics has not been a part of medical training and only a few specialists are aware of the full genetic picture. Hence, genetic counsellors fill this important information gap both for explaining the importance of genetics to families as well as working with doctors to get the best diagnostics and treatment to their patients.
Can I know my cancer risk in advance?
So could you have known that your mother was at an increased risk of cancer in advance? The answer is yes. Today, genetic counsellors can use not only their training and experience but also highly sophisticated prediction software to interpret a person’s family history. Using this information, they can determine whether a person is at a higher risk of developing cancer in their lifetime compared to the average cancer risk of about 1-2 % for most cancer types. Once the genetic counsellor is certain that there is a significantly increased risk, they can recommend genetic tests. These tests can identify whether a disease-causing gene mutation is present in a person’s DNA or not.
Am I at risk?
To know whether your family history or your own medical history predisposes you to hereditary cancer, answer these simple questions:
Download this questionnaire to share it with friends or family
|Answer the following questions in sequence:||Yes||No||My Score|
|1. Are you suffering from cancer?||15||0|
|2. If NO, please move on to Question 4.|
If YES, were you diagnosed before the age of 50?
|3A. Are you suffering from any of the following cancers:|
unilateral breast cancer, bilateral breast cancer, triple negative
breast cancer (ER/PR/Her2neu negative), ovarian cancer,
medullary thyroid cancer, male breast cancer, pancreatic cancer,
colon cancer, renal cancer, or prostate cancer?
|3B. I was diagnosed with a different type of cancer.||10|
|4. Are any of your first-degree relatives (parents, siblings, children)|
suffering from cancer?
|5. If YES, was their age at diagnosis below 50 years?||15||0|
|6. Do any of your second-degree relatives (maternal/paternal uncles/aunts,|
cousins, or grandparents) have a cancer history?
|7. If YES, was their age at diagnosis below 50 years?||15||0|
Check Your Result:
Add up all the points you accumulated if you answered YES to any of these questions. Then check in the table below what your hereditary cancer risk category is.
HIGH RISK – Definitely see a genetic counsellor NOW. Post genetic consultation, if advised, an appropriate genetic test can help your current therapy, early diagnosis, and prevention of other cancer risk and evaluate risk for other unaffected family members. Please call us on 1800-1022-695 to book a complementary genetic counselling session.
MODERATE RISK – You should consult a GC to understand your risk for other cancers and ways of early detection or prevention of cancer OR to rule out hereditary risk.
LOW RISK – You may want to see a GC to evaluate your risk and be reassured.
If your score indicates a HIGH RISK, you should definitely speak to a genetic counsellor. They will identify your exact risk and find out whether genetic testing is recommended for you or a family member. To make an appointment, you can call us on 1800-1022-695 (toll-free in India) or email us at email@example.com.
We have helped many families identify and manage their cancer risks over the years. And in some cases, a definitive diagnosis of hereditary cancer can even open up new treatment avenues. Genetic counselling at the Strand Center is always free of cost.
Visit our website to learn more about hereditary cancer and genetic testing for inherited mutations: www.strandls.com/stayaheadofcancer
From the expert
Get a detailed description of what happens at the pre- and post-test genetic counselling sessions in this video featuring Payal Manek, one of our genetic counsellors at Strand Life Sciences. Watch now!