It is estimated that 5-10% of all cancers are caused by inheritance of genes that are mutated or damaged. I have often seen the children of Cancer patients being worried about they themselves getting cancer. Often the come to me with a irrelevant tests, advised by physicians or otherwise, which would not estimate there risks of getting cancer. Is there a way to understand whether one is at risk? Is there a simple test available?
In this regard I would like to share a case study of Ruchi (name changed), a 40- year-old chartered accountant. Her paternal grandmother had breast cancer. One of her cousins from her father’s side of the family had been diagnosed with throat cancer. She was worried about her own risks for developing cancer. After some deliberation, she decided to consult me.
After understanding Ruchi’s family history and her concern about inheriting genes that may increase her personal risk of cancer and a genetic counselling. A blood sample was collected for DNA testing.
In Ruchi’s case, DNA analysis showed that she did not have pathogenic (disease-causing) mutations in any of the genes tested.
Hence concluding:
a. Ruchi does not have germline mutant (abnormal) copies of the genes tested, in her DNA.
b. Her risk for developing inherited breast and ovarian cancer is low. However, the risk for developing sporadic (by chance) cancer is still present like rest of the population.
c. Her family history of cancer could also be a result of mutations in other genes or other regions of the tested genes, not covered by the test.
d. Ruchi’s chances of suffering from hereditary cancer are low.
However, a healthy lifestyle and periodic health check-ups would still be advisable for her.
