It’s in Your Genes
New breakthrough in genetics now helps families with a history of cancer predict and prevent the world’s most dreaded disease
Dr Nirmala Vaze’s family tree is not just a patchwork of longforgotten names and dates. There’s a secret that flows through its branches: Cancer. It shows up like clockwork with every new generation. Breast, ovarian, uterine, blood, throat, prostate— you name it and it’s here. It has ravaged 15 lives in the last three generations, the 67- year- old Nagpur gynaecologist being one of three in her generation of 10 to have defied death, if not cancer. It has also spilled on to generation next, with the age of onset falling from 40s to 20s: Vaze’s architect daughter, Sampada Peshwe, 39, was diagnosed with breast cancer at just 26. If this is a family saga of heartbreak, it’s also one of hope. The war on cancer has turned a new corner. And radical new genetic management of the disease, even before cancer strikes, is catching on. The Tata Memorial Centre ( TMC) in Mumbai, where Peshwe was a patient, has put 35 members of Vaze’s family through genetic tests: To predict their cancer risk and prevent it on time.
Vaze and her relatives were not surprised when Hollywood star Angelina Jolie vaulted into global headlines in May with her double mastectomy. Jolie may have stunned the world, but it’s a story quietly being repeated all over the country, and the world. Hereditary cancers are in the news. Breathtaking changes in genetic research have given doctors new tools and tests to sort out the abnormal genes that lead to cancer. Going by statistics, just 10 per cent of all cancers are inherited. But by absolute
numbers, it’s no less than 50,000 lives each year in India, says Dr Rajiv Sarin, who set up one of India’s first cancer genetics units at TMC with support from the Indian Council of Medical Research. As the geography of investigation shifts from organs, tissues and cells to the DNA, it becomes increasingly possible for families with a history of cancer to buy their way out of destiny.
“In fact, Angelina Jolie has put us in a fix,” says Dr Harit Chaturvedi, director of surgical oncology at Max Healthcare in Delhi. “We are now flooded with patients asking for the same type of treatments she went through.” Preventive surgeries, where the surgeon removes tissue that does not yet contain cancer cells but may become cancerous, have been steadily rising in India in the last three years. Dr Chaturvedi has been doing at least one such surgery every two months. But his chamber is filling up with anxious men and women keen to follow in Jolie’s footsteps. “Surgery is not the only preventive option,” he says. Cancer genetics has opened up a whole new world: Genetic counselling, testing, screening, chemoprevention, surgery and, of course, aggressive lifestyle modifications. “What started with breast cancer has spread to ovarian, thyroid, uterine, colon and some rare gastric and kidney cancers. We can help more patients now,” he says.
Ruchi V., 25, of Chennai is one such patient. Her mother has just been diagnosed with cancer, the dreaded word that unites her blood family. The disease has snuffed out five precious lives in the last three generations. Ruchi had always considered the deaths and the diseases unrelated. It is only now that she has started giving more than a fleeting thought to the idea that so many cancers in one family might not be normal. At a different time, she would have waited silently, in fear and faith, for the disease to strike. Today, thanks to the new treatment options, she can walk up to an oncologist and ask: “Can you tell me what I can do to save myself from cancer?”
TRACKING THE DEADLY GENE
It’s a typical question Dr Amit Verma, who runs the Familial Cancer Clinic at Max Healthcare, tries to answer. On any given day, his clinic fills up with men and women asking anxious questions: “My mother had cancer. Will I get it, too?”, “Will I pass it on to my children?” Like a super sleuth, the cancer geneticist asks plenty of questions, fills his notebooks with sketches of family trees— circles for female, squares for male— sifts for clues in gene pools, simulates genetic models on his computer, does the algorithm to figure out
percentage risk of cancer in one’s genes and suggests the best battle plans to ward off cancer. And often his diagnosis is the discovery of a lifetime, the lifetime of his patients, for better or for worse. “Cancer is a disease of old age, but most family cancers strike at an unusually young age, even in teens and often before age 40,” he says. “And all those who carry mutated genes have a 60- 100 per cent lifetime risk of cancer.”
At the root of it is God’s own jigsaw puzzle: The human genome, or the entire set of inheritable traits in our cells that make us who we are. With scientists mapping more genes in the human body, cancer genetics is now one of the fastest expanding medical specialities. And it is altering clinical practice, with oncologists and geneticists targeting genes that are ‘ faulty’ ( see box). Hereditary cancers arise from altered genes passing down generations. “The probability of an inherited cancer goes up if you have a number of close relatives with cancer,” says Dr Sarin. There are other pointers, too: Cancer at a young age and if the types of cancers in a family are similar. “For instance, all breast cancers are linked to ovarian or prostate cancers,” he says.
ABOMB WAITING TO EXPLODE Age is a time bomb for inherited cancer. Vaze was 41 and a mother of two when she found a lump on her breast. She was not aware that some cancers could run in families, although her elder sister had been diagnosed with breast cancer. “Are you going to die like aunty?” her children asked. “I am sure I will come out of it,” she told them. That was the pattern, even when she got cancer in her other breast 17 years later. “None of us sat and cried.” But it broke her heart when her daughter was diagnosed with breast cancer at 26, just a month after her wedding. “What have I passed on to you,” she had said. “Your cancer, yes, but also your fighting spirit,” her daughter replied.
Shachi Marathe, 30, lost her mother to ovarian cancer by the time her breast cancer was spotted. The Mumbai girl was just 22. Her childhood sweet
heart was by her side through the rounds of surgery, chemo and radiation. “We got married three years ago,” she says. With a very strong family history of cancers on her mother’s side, doctors at TMC offered genetic counselling and testing for her blood family. This would allow geneticists to study how the mutated gene behaves in her family and help those at high risk avoid cancer. And if a family member did get cancer, they would know exactly which genes to look for. “Unfortunately, many in my family did not agree to such tests,” says Marathe. “They prefer to deal with cancer only after they get it.”
That’s exactly what doctors are warning against. “Cancer does not happen overnight. It’s a process that takes time and then manifests one day,” says Dr Verma. One’s stress level, physique, weight, diet— all these come into the picture. “I have seen patients with strong