Swayam Prabha, a Bengaluru-based woman, was diagnosed with a mutation in the BRCA1 gene, eight years ago. The name “BRCA” is an abbreviation for “BReast CAncer gene.”
Every human has both the BRCA1 and BRCA2 genes. Despite their names, the BRCA genes do not cause breast cancer and are normally cancer suppressors.
The BRCA mutation is a change in the genes of BRAC1 or BRAC2 or sometimes, both, and this mutation has been found to drastically increase a woman’s chances of developing breast and ovarian cancer. Men with BRCA mutations have a higher than average risk for prostate cancer, and other cancers.
Although only 5-10% of breast cancer cases are attributed to the mutation, the chances that women with a BRCA gene mutation will develop breast or ovarian cancer is very high.
Additionally, the mutated gene is inherited in a dominant fashion, meaning there is a 50% chance of it being present in the child.
Swayam’s mother is a cancer patient, and her siblings were requested to take the BRCA gene test, to see if they too were in danger. The tests revealed that only Swayam had the mutation, and there was a good chance that she would pass the mutation to her children.
However, as reported in the Times of India, on July 20, 2018, she gave birth to twins who do not carry the deadly mutation. This is the first such case in the country.
The incredible feat was all possible due to the modern medical techniques adopted by the doctors at the Jaslok Hospital.
“My mother has cancer, and her sisters passed away due to it. I have the BRCA1 mutation, increasing my risk of cancer but this cancer cycle will end with me. My children have been spared,” an elated Swayam said to ToI.
So, how did the doctors manage to stop the mutation from being passed?
IVF specialist, Dr Firuza Parikh, and her team of geneticists used the method of Preimplantation Genetic Diagnosis/Testing (PGD/T), where they selectively screen for embryos that do not contain the mutation.
In Swayam’s case, six embryos were taken, of which two weren’t viable, two had the mutation, and only the last two were viable.
“Worldwide, PGD/T has been used to keep out the BRCA1 and 2 genes in roughly 150 cases,” said Dr Parikh to ToI who runs the Jaslok FertilTree International Fertility Centre. “Genetic abnormalities can result from a small mutation in just one gene, and PGD/T can play a role in preventing congenital disabilities,” added Parikh.
Swayam has been under Dr Parikh’s care since December 2016 and had the option of removing her ovaries to stop the onset of cancer. However, Dr Parikh advised her against it as Swayam wanted to get pregnant, and this would not be possible after the surgery. Swayam was also told that the mutation wouldn’t necessarily lead to cancer, so the surgery could be put off.
Speaking to ToI, Ahmedabad-based Dr Manish Banker, former president of the Indian Society for Assisted Reproduction (ISAR), said, “Five years ago, the cost of PGD/T was double of what it is now, at Rs 15000–20000 per embryo. It increases the chances of pregnancy in IVF cycles and is advisable for older women.”
Specialists also suggest that PGD/T can be useful in detecting Down Syndrome or Duchenne Muscular Dystrophy.
(Edited by Gayatri Mishra)