Dr Kanchan Kaur
Gene testing is emerging as an important method of providing valuable insights into an individual’s risk of developing certain cancers.
Genes are contained in the DNA in our cells and contain the instructions that control cellular functions. Mutations, which are deleterious changes in these genes , can increase the risk of developing cancer. Particularly, mutations in the BRCA1 and BRCA2 genes have been linked to an increased susceptibility to breast and ovarian cancers.
There are other genes like ATM, PTEN, which may be associated with cancer syndromes including increased risk of breast, thyroid, colon, pancreas and prostate cancer.
BRCA gene testing is not necessary for everyone. It is recommended for women who have a personal history of breast or ovarian cancer at a young age or if they have aggressive forms of the cancer( like triple negative ) at any age . It is also advised for all male breast cancer patients.
Individuals who do not have cancer, but have a strong family history of breast ,ovarian or prostate cancer are advised genetic counselling with a genetic counsellor to determine if they will benefit from testing.
BRCA gene testing is done through a simple blood sample or saliva test.
A positive result indicates the presence of a mutation, signifying an increased risk of developing breast or ovarian cancer. The result might sometimes be reported as VUS which means that there is a variation in the gene, but it is of unknown significance and for which no intervention is advised. A negative result, on the other hand, suggests that the individual is not at an increased risk. It is important to note that a negative result does not eliminate the possibility of developing cancer, as other genetic and environmental factors contribute to overall risk.
For those individuals who test positive for a gene mutations, they have a lifetime risk of over 80% of developing breast or ovarian cancer. Certain measures can be taken to reduce the risk ; and , surgeries to remove the breasts and ovaries, before cancer develops , provides the highest degree of protection against developing cancer.
For those who choose not to undergo the surgeries, close surveillance and monitoring with regular tests is strongly advised. This cannot orevent the cancer from developing but can help detect it an early stage , when treatments are more likely to be successful It is important for individuals to work closely with healthcare professionals to develop a personalized plan based on their specific genetic profile and risk factors.
If someone is detected to have the mutated gene, it is advisable for them to inform their relatives, so that they can also undergo proactive counselling for getting tested.
A parent who has a mutation, is at a risk of passing it on to their offspring. Advances in technology , now allow a technique called ‘pre-implantation diagnosis’ in which the embryos are tested through a technique similar to IVF and only the healthy embryo which does not contain the mutation is implanted on to the womb , thus eliminating the risk of cancer in the developing baby.
With changing times, it is important that as a population, our attitude towards cancer changes. We must inculcate healthy lifestyle practices, seek out screening tests for early detection and also seek advise on genetic counselling when appropriate.
(The author is Director Breast Services Department, the Medicity)
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